Pediatr Clin N Am 51 (2004) 863 – 888                    Skin lesions in the neonate            Joseph D. Conlon, MD, Beth...
864           J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888                               Fig. 1. Milia o...
J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888     865                       Fig. 2. Individual lesion of ...
866           J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888  Box 1. Most causes of neonatal pustules or v...
J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888   867and lag behind other signs and symptoms. Lethargy or p...
868           J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888spread may also occur, leading to cellulitis, ...
J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888   869                   Fig. 6. Cutaneous candidiasis on th...
870Table 1Common birthmarksColor/1 lesion                  Birthmark                             Location                 ...
J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888            871incidence in premature infants have been docu...
872           J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888            Fig. 8. Multiple hemangiomas raise...
J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888         873          Fig. 10. Sacral hemangioma. Patient ha...
874           J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888malformations. Capillary malformations are pre...
J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888   875Lymphatic malformations    Lymphatic malformations (ly...
876               J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888cant incidence of neoplastic growths withi...
J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888                877  Fig. 12. Congenital melanocytic nevus o...
878           J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888                Fig. 13. Giant congenital mela...
J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888               879             Fig. 15. Hair collar sign. Th...
880             J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888Table 2Cutaneous lesions associated with spi...
J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888    881papillary dermis. Over 20 subtypes of EB are describe...
882            J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888    As a general rule, the management of all ...
J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888     883diffuse cutaneous mastocytosis (DCM). These entities...
884           J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888flattened, and distorted. The lips are everted...
J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888      885females. Cryptorchidism is seen in approximately 25...
886             J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888hyperkeratosis is diagnostic and consists of...
J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888                  887References [1] Lucky AW. Transient beni...
888             J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888     bullosa: report of the Second Internati...
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Skin lesion in neonate

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Skin lesion in neonate

  1. 1. Pediatr Clin N Am 51 (2004) 863 – 888 Skin lesions in the neonate Joseph D. Conlon, MD, Beth A. Drolet, MD* Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Children’s Hospital of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA Neonatal skin plays a pivotal role in the transition from an aqueous to an air-dominant environment, because it provides mechanical protection and assists inthermoregulation, immunosurveillance, and fluid balance. Worried parents oftenseek medical attention from their child’s physician regarding skin lesions. Thus, aworking knowledge of both normal and abnormal cutaneous lesions of theneonate is required to properly address these issues. In this article, the authorsbriefly discuss transient benign lesions, pustular and vesicular infections, ‘‘birth-marks’’ (vascular and pigmentary lesions), common congenital abnormalities,select blistering disorders, and various other skin conditions.Transient benign cutaneous lesions At birth, infants near complete gestational maturity have varying degrees ofvernix caseosa. This moist, greasy, gray-white coating composed of sebum,keratin, and hair becomes thicker with advancing gestational age and providesprotection in utero and perinatally. It may be stained yellow with meconiumsignaling possible fetal distress [1]. Fine desquamation occurs in most infants. Timing is dependent on gestationalage. Preterm and full-term infants undergo this process at 2 to 3 weeks and 1 to2 day of age, respectively. Post-term infants often experience thicker peelingand cracking. Additional benign skin lesions are often discovered during the infant’s firstfew weeks of life. Milia are 1- to 2-mm, white, smooth papules most oftenlocated on the forehead, cheeks, and nose (Fig. 1). They are the result of tinyinclusion cysts in the epidermis. These lesions are discrete and resolve sponta-neously as they naturally express their keratin contents. When located within theoral mucosa, they are called Epstein pearls. Milia may be easily confused with * Corresponding author. E-mail address: drolet@mew.edu (B.A. Drolet).0031-3955/04/$ – see front matter D 2004 Elsevier Inc. All rights reserved.doi:10.1016/j.pcl.2004.03.015
  2. 2. 864 J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 Fig. 1. Milia on the forehead.sebaceous hyperplasia, which appears as smooth, yellow, follicular-based papuleson or around the nose. These are found in about one-half of term infants, rarely inpreterm infants, and also resolve fairly rapidly [2]. Milaria is a general term used to describe occlusion of the eccrine duct [3].This occurs more frequently with infants who are in warm environments,excessively bundled, or with fevers. The cutaneous findings associated withthese phenomena vary depending on the level of obstruction. Obstruction athigher levels in the epidermis results in superficial trapping of sweat under thestratum corneum, producing the small clear vesicles typical of miliaria crystallina.The vesicles, which resemble water droplets on the skin, appear within the firstfew days of life, are extremely fragile, and wipe away easily [1]. Miliaria rubra or‘‘prickly heat,’’ presents as 1- to 3-mm, erythematous, nonfollicular-basedpapules and papulopustules, usually on the forehead, upper trunk, and flexuralor occluded areas. Deeper intraepidermal occlusion of the eccrine duct causesmild inflammation, producing the erythema associated with miliaria rubra. It isalso generally found in overheated and febrile infants. Clinical diagnosis issufficient, but if confusion with neonatal infection arises secondary to itsinflammatory characteristics, a smear of the vesicle contents reveals an absenceof cellular contents. Relief and avoidance of overheating can hasten resolution ofboth types of miliaria. Erythema toxicum is the most well recognized, frequently occurring, benigneruption of the newborn period, occurring in approximately half of all terminfants [4]. Its presences correlate with gestational age and birth weight, becauseit is rarely seen in very premature infants [5]. Presenting as blotchy, 1- to 3-cm,erythematous macules, sometimes with a central 2- to 4-mm vesicle or pustule,the lesions of erythema toxicum wax and wane, lasting about 1 week (Fig. 2).They typically occur within the first 1 to 2 days of life on the face, withsubsequent spread to the trunk and extremities. Rarely, lesions may present atbirth or after 1 to 2 weeks. The diagnosis is again clinical; however, a Wrightstain may be performed to confirm the presence of eosinophils and relative lackof neutrophils. The etiology of this common eruption is unclear, and no treatmentis required because individual lesions clear in about a week. Transient neonatal pustular melanosis (TNPM) is an eruption that may beconfused with erythema toxicum. In fact, some have proposed that TNPM is aprecocious form of erythema toxicum [6,7]. Most common in African Americans,
  3. 3. J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 865 Fig. 2. Individual lesion of erythema toxicum.TNPM occurs predominantly on the forehead, back, posterior neck, and shins. Ithas three distinct phases. First, superficial, 2- to 10-mm vesicopustules withoutinflammation are present at or near birth. The contents are sterile, but filledpredominantly with neutrophils. These fragile lesions usually clear within thefirst week, and the second phase becomes apparent as a collarette of fine scaledevelops around the resolving vesiculopustules. Last, macules of brown hyper-pigmentation develop at the sites and eventually fade over the first few weeksto months. Another papulopustular eruption that may occur in the newborn period isbenign cephalic pustulosis, commonly referred to as neonatal acne. It ischaracterized by small, inflammatory, erythematous papules and pustules foundon the cheeks, forehead, and scalp. They may be present at birth, but morefrequently appear at 2 to 3 weeks of age and resolve spontaneously. Benigncephalic pustulosis is differentiated from infantile acne by its lack of comedonallesions and earlier onset [8]. Sucking blisters, erosions, or calluses are usually solitary, tense, fluid-filledblisters found on an extremity [9]. They are thought to be related to vigorous inutero sucking by the fetus on the site of involvement. Erosions or calluses mayalso develop, especially if the neonate continues to suck at the site.Infectious vesiculopustular eruptions of the newborn Familiarity with the transient benign lesions of the newborn period ismandatory for all health care professionals taking care of neonates. Without thisknowledge, one is less able to differentiate between the aforementioned entitiesand potential worrisome vesicular or pustular lesions indicative of infection. Thelist of neonatal infections with cutaneous clues is extensive. The followingsection provides only a limited review of more commonly encountered eruptionsassociated with specific infectious etiologies: herpes simplex, group B strepto-
  4. 4. 866 J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 Box 1. Most causes of neonatal pustules or vesicles Superficial staphylococcal pustulosis Erythema toxicum neonatorum Transient neonatal pustular melanosis Miliaria (cystallina or rubra) Benign cephalic pustulosis Neonatal candidiasis Congenital candidiasis Herpes simplex infections Scabies Acropustulosis of infancy Incontinentia pigmenti Adapted from Frieden IJ, Howard R. Vesicles, pustules, bullae, and erosions. In: Eichenfield LF, Frieden IJ, Esterly NB, editors. Textbook of neonatal dermatology. Philadelphia: WB Saunders; 2001. p. 138; with permission.coccal infection, staphylococcal pustulosis, and candidiasis. Box 1 lists causes ofneonatal pustules or vesicles [10]. Neonatal herpes simplex (HSV) infection remains one of the most fearedetiologies of vesicles and pustules in the newborn period, because significantsystemic involvement is possible. It may result in several different clinicalpatterns: localized, disseminated (visceral involvement, usually lungs or liver),and central nervous system disease. All three may have cutaneous findings.Classically, lesions are grouped, 2- to 4-mm, clear vesicles on an erythematousbase on the scalp or face (Fig. 3); however, these may be located anywhere, andcan evolve onto pustules, crusts, or erosions. Although they may be the mostcharacteristic findings of HSV infection, they may be subtle, inconspicuous, Fig. 3. Lesions on scalp indicative of HSV infection.
  5. 5. J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 867and lag behind other signs and symptoms. Lethargy or poor feeding may be thefirst, albeit nonspecific, clues to disease. Seizures may indicate central nervoussystem involvement. Neonatal herpes is usually caused by infection with herpes simplex virus type2 and is acquired as the infant passes through the vaginal canal at birth. Amaternal history of a primary herpes infection may provide important diagnosticinformation; however, the majority of neonatal herpes cases occur in infants bornto women who remain asymptomatic or do not recognize symptoms. A secondaryoutbreak of maternal herpes infection rarely leads to neonatal infection. If skin lesions suspicious of HSV infection are present, early diagnostic andtherapeutic intervention is crucial. Representative lesions should be scraped forTzanck smear and culture. Viral cultures of the blood, cerebrospinal fluid, andurine should be obtained. Intravenous antiviral therapy, close monitoring, andappropriate isolation protocols should be initiated. The most common cause of sepsis in the newborn period is group Bstreptococcal infection. A maternal history of infection may heighten awarenessfor signs or symptoms of disease. These infants may present with temperatureinstability, lethargy, irritability, or poor feeding. They may also present withvesicles, bullae, erosions, or honey-crusted lesions at any site. Gram stain of thelesion demonstrates gram-positive cocci in chains. A full septic work-up iswarranted and antibiotic therapy is required because bacteremia, pneumonia, andmeningitis are potential complications. When multiple small vesicles and pustules develop in the diaper area andlower abdomen of neonate, a gram stain and culture should be performed, even ina well-appearing child. The presence of gram-positive cocci in clusters indicatesthe possibility of staphylococcal pustulosis (Fig. 4). These infants are usuallyasymptomatic, but lesions may evolve into bullae heralding the progression tostaphylococcal scalded-skin syndrome. The causative strains of S aureus (phagegroup 2) produce epidermolytic toxins that target cells in the superficialepidermis, causing erythema and loss of cell-to-cell adhesion. Staphylococcalscalded-skin syndrome has a low, but real associated risk of mortality inchildren and the majority of these cases are neonates. Local and hematogenous Fig. 4. Staphylococcal pustulosis on the lower abdomen.
  6. 6. 868 J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888spread may also occur, leading to cellulitis, osteomyelitis, pneumonia, orsepticemia [11]. These potential morbidities necessitate prompt diagnosis and initiation oftreatment. Culture of lesion contents confirms the diagnosis and sensitivityprofile of the particular strain of S aureus. In an infant who has localizednonbullous disease and no signs of systemic disease, oral antibiotic therapy withvery close follow-up may be warranted. Cephalexin or dicloxacillin are appro-priate choices. When evidence of bullous disease is present, however, admissionwith appropriate isolation of the patient and use of intravenous antibiotictherapeutics is recommended because of the potential for rapid progression tomore severe disease. The need for a full septic work-up is controversial. Parentaltherapy should be continued until clearance of active lesions and systemicsymptoms. Oral antibiotics may be used to complete a full 7- to 10-day course. The clinical presentation of cutaneous infection with Candida species isvariable, depending on the age of patient, the route of infection, and the patient’simmune status. Candida prefers a warm, moist environment, which explainsits predilection for the mouth and diaper area of infants. With oral candidiasis,involvement of the tongue and buccal mucosa is most common. Candidaldiaper dermatitis is frequently associated with oral infection, and presents withbright red papules and pustules that coalesce into plaques. Satellite lesions areapparent as red papules at the border of the large plaques and facilitate thediagnosis. If necessary, potassium hydroxide (KOH) examination confirms thepresence of budding yeast or pseudohyphae. Congenital candidiasis is acquired in utero as a result of an ascending infectionfrom a maternal candidal vulvovaginal infection. It is surprisingly uncommon,given the high prevalence of vaginal colonization in pregnant women [12]. Thiseruption is present at birth as small red papules and pustules, followed by crustingand desquamation (Fig. 5). These can be located virtually anywhere, includingthe palms and soles (Fig. 6). Rarely, there will be generalized erythema anderosions. Ironically, the mouth and diaper area are spared. Systemic dissemina-tion is rare in term infants. They typically respond well to topical antifungaltherapy. Candidiasis with systemic involvement is more common in premature, Fig. 5. Erythema and desquamation characteristic of cutaneous candidiasis.
  7. 7. J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 869 Fig. 6. Cutaneous candidiasis on the plantar surface.low birth-weight infants. These infants and those with evidence of systemicsigns of illness may have disseminated infection, and thus require aggressiveparental therapy.Birthmarks ‘‘Birthmark’’ is a general term used to describe congenital anomalies of theskin. It should not be used as a diagnosis, because congenital skin lesions varygreatly in their appearance and prognosis. Many congenital skin anomalies existand often present with associated signs and symptoms (Table 1).Hemangiomas and vascular malformations The understanding of vascular lesions has evolved significantly over the past30 years. They can be divided into two major categories: hemangiomas andvascular malformations. Hemangiomas are vascular tumors characterized by clearproliferative and involutional phases. Malformations are developmental defectsderived from the capillary, venous, arterial, or lymphatic vessels. These lesionsremain relatively static, and growth is commensurate with growth of the child. Itis important to differentiate these two entities because they have very differentprognoses and clinical implications. Hemangiomas are the most common soft-tissue tumors of infancy, occurringin approximately 5% to 10% of 1-year-olds [13]. True hemangiomas arecharacterized by a growth phase, marked by endothelial cell proliferation andhypercellularity, and by an involution phase. Hemangiomas are clinicallyheterogeneous; their appearance is dictated by the depth and location in theskin, as well as by the stage of evolution. In the newborn, hemangiomas mayoriginate as a pale white macule or patch with threadlike telangiectasia. As thetumor proliferates, it assumes its most recognizable form: a bright red, slightlyelevated, noncompressible plaque. Hemangiomas that lie deeper in the skin aresoft, warm masses with a slightly bluish discoloration. Frequently, hemangiomashave both a superficial and deep component. They range from a few millimetersto several centimeters in diameter and usually are solitary; however, up to 20% ofinfants will have multiple lesions. A female predominance (3:1), and an increased
  8. 8. 870Table 1Common birthmarksColor/1 lesion Birthmark Location Other J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888Brown/macule or patch ´ Cafe-au-lait macule Variable, trunk Associated with neurofibromatosisBrown (<20 cm)/plaque Congenital melanocytic nevus Scalp, trunk Possible increased risk of melanomaBrown ( > 20 cm)/plaque Giant melanocytic nevus Trunk most common 3% – 7% risk of melanoma, neurocutaneous melanosisBrown-flesh colored/plaque Epidermal nevus Variable: trunk/ neckRed/patch Port-wine stain Variable, face most commonRed/papule or plaque Hemangioma Variable, head and neck most commonRed-purple/plaque Lymphatic malformation Variable, trunk, proximal leg Often have a vesicular appearanceGray -blue/patch Mongolian spot (dermal melanosis) Buttocks, lower trunk Usually resolve spontaneouslyGray-blue/patch Nevus of Ota Forehead and eyelids Ocular pigmentationGray-blue/patch Nevus of Ito Posterior shoulderBlue/nodule Dermoid cyst Scalp, face, neck May connect to CNS if midlineBlue-purple/nodule Cephalohematoma ScalpBlue-purple/plaque Venous malformation Variable Enlarge slowly over timeYellow-orange/plaque Nevus sebaceus Scalp, face, neck Basal cell carcinoma may arise with in lesionYellow-orange/nodule Congenital juvenile xanthogranuloma TrunkYellow-brown/papule or nodule Mastocytoma Variable May urticate or blisterHypertrichosis/plaque Congenital melanocytic nevus Scalp, trunkHypertrichosis/tumor Plexiform neurofibroma Trunk most common Associated with neurofibromatosisHypertrichosis/plaque Smooth muscle hamartoma TrunkWhite/patch Nevus anemicus VariableWhite/patch Nevus depigmentosus Variable
  9. 9. J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 871incidence in premature infants have been documented. Approximately 55% ofthese tumors are present at birth, and the remainder develop in the first weeks oflife. Generally, superficial hemangiomas have reached their maximal size by 6 to8 months, but deep hemangiomas may proliferate for 12 to 14 months.Hemangiomas then undergo slow, spontaneous resolution, which generally takes3 to 10 years. Most hemangiomas do not require medical intervention and willinvolute spontaneously; however; if complications arise and treatment is war-ranted, oral systemic corticosteroids are the mainstay of therapy. Despite the benign nature of most cutaneous hemangiomas, a small numberwill cause functional compromise or permanent disfigurement. The risk ofpermanent disfigurement is much higher if the hemangioma is located on theface. The nose, lip, and forehead are the most vulnerable regions, and heman-gioma in these areas must be monitored closely (Fig. 7). Ulceration, the most frequent complication, can be excruciatingly painful andcarries the risk of infection, hemorrhage, and scarring. Hemangiomas located inthe diaper region are at the greatest risk of ulceration. Rarely, hemangiomas maypresent as a congenital ulceration in the diaper region, and careful examination ofthe ulceration will reveal a small rim of typical superficial hemangioma. Periorbital hemangiomas pose considerable risk to vision and should becarefully monitored. Hemangiomas involving the ear may decrease auditoryconduction, which ultimately may cause speech delay. Multiple cutaneous(diffuse hemangiomatosis) (Fig. 8) and large facial hemangiomas may be asso-ciated with visceral hemangiomas. Subglottic hemangiomas can manifest withhoarseness and stridor, and progression to respiratory failure may be rapid.Approximately 50% of these infants will have associated cutaneous heman-giomas; thus noisy breathing in an infant who has a cutaneous hemangiomainvolving the chin, lips, mandibular region, and neck warrants direct visualiza-tion of the airway. Approximately 60% of young infants who have extensivefacial hemangiomas in the ‘‘beard’’ distribution will develop symptomatic air-way hemangiomas. Fig. 7. Nasal tip hemangiomas are at increased risk for permanent deformity.
  10. 10. 872 J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 Fig. 8. Multiple hemangiomas raise suspicion of visceral involvement. Extensive cervicofacial hemangiomas may be associated with multiplecongenital anomalies (PHACES syndrome) (Fig. 9). The acronym PHACESsyndrome describes a constellation of findings including Posterior fossa malfor-mations, large cervicofacial Hemangioma, Arterial anomalies of the head andneck, Coarctation of the aorta and cardiac defects, Eye anomalies, and Sternalcleft. This syndrome has a marked female predominance (9:1), and is thought torepresent a developmental field defect that occurs during the 8th through10th weeks of gestation. Lumbosacral hemangiomas may also be markers foroccult spinal dysraphism (Fig. 10) and anorectal and urogenital anomalies. Fig. 9. Large, flat facial hemangiomas can be associated with PHACE syndrome.
  11. 11. J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 873 Fig. 10. Sacral hemangioma. Patient had underlying lipomyelomeningocele.Imaging of the spine is indicated in all patients who have midline hemangiomasin this region. The Kasabach-Merritt phenomenon (KMP), a complication of rapidly enlarg-ing vascular lesion, is characterized by hemolytic anemia, thrombocytopenia, andcoagulopathy. Most reported cases present in the first weeks of life. Recently, thedifferences between the vascular lesions that induce this phenomenon and classichemangiomas of infancy have been emphasized. The vascular tumors that causeKMP are large, deep red-blue color, firm, grow rapidly, have no sex predilection,tend to proliferate for a longer period (2– 5 years), and have a different histologicpattern. It is now clear that most patients who have true Kasabach-Merrittphenomenon do not have hemangiomas of infancy, but rather other moreaggressive proliferative vascular tumors. Kaposiform hemangioendotheliomasand tufted angiomas are the tumors most often associated with this phenomenon,and they require aggressive, (often multi-modality) treatment and carry asignificant mortality rate. Vascular malformations are congenital abnormalities that are composed ofanomalous capillaries, veins, lymphatics, or a combination thereof [14]. It isimportant to differentiate these lesions from proliferative vascular tumors duringinfancy, because they have a very different natural history. Precise use of accurateterminology is essential to determine potential complications, associations, andtreatment options. Transient macular stains (stork bite, salmon patches, or angel kiss) are presentin up to 70% of normal newborns. They are usually found on the nape of theneck, the eyelids, the glabelar region of the forehead, and less commonly on theupper lip. In a prospective study of affected infants, most of the facial lesions hadfaded by 1 year of age, but those on the neck were more persistent. Surveys ofadult populations confirm the persistence of the nuchal lesions in approximatelyone fourth of the population. The terms ‘‘butterfly-shaped mark’’ or ‘‘sacralmedial telangiectatic vascular nevi’’ are often used to describe similar vascularstains located on the midline sacral region of the back. Port wine stains (nevus flammeus) are malformations of the superficialcapillaries of the skin. The term capillary malformation is more accurate andshould be used, especially if the lesion is associated with additional vascular
  12. 12. 874 J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888malformations. Capillary malformations are present at birth and should be con-sidered stable developmental defects. They may be only a few millimeters indiameter or may cover extensive areas, occasionally involving up to half thebody surface. They do not proliferate after birth; any apparent increase in size iscaused by growth of the child. A capillary malformation may be localized to anybody surface, but facial lesions are the most common. Lesions are pink-red,sharply demarcated macules and patches in infancy. With time they darken to apurple or port wine color and may develop a pebbly or slightly thickened surface.Capillary malformations are often dermatomal in their distribution. Currently, themost successful treatment modality in use for superficial capillary malformationsis the pulsed dye laser, which is usually quite effective in fading these lesions.The efficacy of laser treatment is further increased if undertaken in infancy. Most capillary malformations occur as isolated defects and do not indicatesystemic malformations. Rarely, they may be a clue to the presence of defects inthe eye or certain vascular syndromes. Children who have facial port wine stainsinvolving skin innervated by the V1 or V2 branches of the trigeminal nerveshould have a thorough ophthalmologic examination in infancy, because thesechildren are at risk for glaucoma or Sturge-Weber syndrome [15]. Sturge-Webersyndrome, or encephalofacial angiomatosis, consists of a facial capillary malfor-mation (usually in the cutaneous distribution of the first branch of the trigeminalnerve), a leptomeningeal venous malformation, mental retardation, seizures,hemiparesis contralateral to the facial lesions, and ipsilateral intracortical calci-fication. Ocular manifestations are frequent and include buphthalmos, glaucoma,angioma of the choroid, hemianoptic defects, and optic atrophy. Roentgenogramsof the skull of the older child show pathognomonic ‘‘tramline,’’ double-contouredcalcifications in the cerebral cortex on the same side as the capillary malforma-tion. CT may detect the calcifications in the younger child before they areapparent on roentgenograms; however, MRI has replaced CT as the diagnosticmodality of choice. The prognosis depends on the extent of cerebral involvement,rapidity of progression, and response to treatment. Anticonvulsant therapy andneurosurgical procedures have been of value in some patients. ´ Klippel-Trenaunay syndrome is a rare entity characterized by a capillarymalformation, venous varicosities (venous malformation), and overgrowth of thebony structures and soft tissues of the involved extremity. Complications includesevere edema, phlebitis, thrombosis, ulceration of the affected area, and vascularmalformations involving the viscera. Port wine stains also occur with moderatefrequency in Beckwith-Wiedemann syndrome (macroglossia, omphalocele, mac-rosomia, and cytomegaly of the fetal adrenal gland), Roberts syndrome, andCobb syndrome (cutaneomeningospinal angiomatosis). Venous malformations present as soft, blue compressible plaques and nodulesthat may occur on any skin surface. They usually appear at birth and enlargeslowly over time secondary to engorgement of the anomalous vessels. Venousmalformations may be very small and of minimal concern, whereas very largelesions can be severely disfiguring and may be complicated by thrombosis,infection, and edema of surrounding tissue.
  13. 13. J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 875Lymphatic malformations Lymphatic malformations (lymphangiomas) are composed of dilated lymphchannels that are lined by normal lymphatic endothelium. They may besuperficial or deep, and often are associated with anomalies of the regionallymphatic vessels. The term ‘‘lymphangioma circumscriptum’’ is used to describe the mostcommon type of lymphatic malformation, and may be present at birth or appearin early childhood. Areas of predilection are the oral mucosa, the proximal limbs,and the flexures. These lesions consists of 2- to 5-mm, red-to-purple, gelatinouspapules clustered on a red-to-brown patch or plaque. Cystic hygroma is a benign, congenital multilocular mass of anomalies andcystic lymph vessels that is usually found in the neck region. Surgical excision orsclerotherapy are the available treatment options for venous and lymphaticmalformations. The tumors tend to increase in size and should be treated bysurgical excision. Epidermal nevi are a group of lesions that are found commonly in the neonatalperiod. Most of them consist of an overgrowth of keratinocytes and often have anidentifiable differentiation toward one of the appendages normally found in skin.They vary considerably in their size, clinical appearance, histologic character-istics, and evolution, depending on their topographic location. Lesions occurringin sites normally rich in sebaceous glands (eg, the scalp) may look like sebaceousnevi, whereas others, found in areas where the epidermis is thick (eg, the elbow),look primarily warty in nature. The most common type of epidermal nevus in the newborn infant is thesebaceus nevus (of Jadassohn), a yellow or pink, hairless, slightly elevated plaqueon the scalp, forehead, or face (Fig. 11). The surface is velvety and oftenpapillated. These lesions have a characteristic shape, oval or lancet-shaped on thescalp and more linear on the face. This lesion is usually an isolated findingwithout extracutaneous manifestations. The nevus sebaceus syndrome is a veryrare entity in which multiple neurologic, ocular, and skeletal anomalies areassociated with a very large, often facial, nevus sebaceus. Because of a signifi- Fig. 11. Nevus sebaceus on forehead.
  14. 14. 876 J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888cant incidence of neoplastic growths within these lesions, surgical excision isusually recommended.Pigmented lesions The most frequently encountered pigmented lesion is the Mongolian spot(dermal melanosis), which occurs in 70% to 96% of black, Oriental, and NativeAmerican infants, and in approximately 5% of white infants. Although most ofthese lesions are found in the lumbosacral area, occurrence at other sites is notuncommon. The pigmentation is gray-blue in color and completely macular, withill-defined borders. It may cover an area 10 cm or larger in diameter. Most ofthese lesions gradually disappear during the first few years of life, but aberrantlesions in unusual sites are more likely to persist. ´ Cafe-au-lait spots are pigmented macules that may be present in the newborninfant but tend to develop during childhood. They range in color from very light ´brown to a chocolate brown and are usually oval in shape. Classically, cafe-au- ´lait macules are associated with neurofibromatosis. As many as five cafe-au-laitmacules are found in 1.8% of newborns and 25% to 40% of normal children and ´have no significance [16]. Children who have multiple cafe-au-lait maculesshould be evaluated carefully for additional stigmata of neurofibromatosis type 1.Six or more lesions measuring greater than 0.5 cm in length are suggestive of thediagnosis, especially when accompanied by freckling in the flexures. The axillary ´ ´and inguinal freckles represent tiny cafe-au-lait macules. Cafe-au-lait spots areusually the first cutaneous lesions to appear in a patient who has neurofibroma-tosis, but additional genetic and clinical investigations may be required toestablish a diagnosis. National Institutes of Health consensus criteria for neu-rofibromatosis type 1 are listed below; definitive diagnosis requires meeting atleast two of the criteria: ´ Six or more cafe-au-lait macules 0.5 cm (children) or 1.5 cm (adults) Two or more neurofibromas or one plexiform neurofibroma Axillary or inguinal freckling Optic glioma Two or more Lisch nodules Distinctive bone changes First-degree relative with neurofibromatosis type 1 The pigmented patches of McCune-Albright syndrome (polyostotic bone ´dysplasia, cafe-au-lait spots, and multiple endocrine disorders) are also referred ´to as cafe-au-lait macules; however, they are usually unilateral, elongated, andlarge (more than 10 cm), and often have a ragged, irregular border. Approximately 1% to 2% of newborn infants are born with congenitalmelanocytic nevi. Small lesions (as opposed to giant pigmented nevi) are slightlyelevated plaques, often with an oval or round configuration. Most lesions are darkbrown in color; however, in the neonatal period these nevi may appear red or
  15. 15. J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 877 Fig. 12. Congenital melanocytic nevus on scalp this lesion presented with a red-brown color.light brown in color, especially when located on the scalp (Fig. 12). Thepigmentation within an individual lesion is often variegated or speckled, withan accentuated epidermal surface ridge pattern. Textural changes, deeper pig- ´mentation, and elevation help to differentiate these lesions from cafe-au-laitmacules. Thick dark, coarse hair is frequently associated with congenitalmelanocytic nevi. These lesions are variable in size, but most are solitary andnot associated with extracutaneous manifestations. Histologically, they arecharacterized by the presence of nevus cells in the dermis, and most will havenevus cells extending into the deeper dermis and fat. Although there is no clear-cut evidence that the small congenital nevus is a premalignant lesion, it is theprevailing opinion that these lesions pose a small increased risk for developmentof malignant melanoma, mostly during adult life. Although controversial, manydermatologists advise removal of these lesions before or near the time of puberty.Should the family elect to observe rather than excise the nevus, periodicevaluation of the lesion for surface changes and associated symptoms shouldbe performed. An excisional biopsy is indicated in instances in which malignantchange is suspected. Giant congenital nevi are defined as nevi that will be 20 cm or greater inadulthood. These lesions can be one of the most dramatic birth defects observed.These nevi may occupy 15% to 35% of the body surface, most commonlyinvolving the trunk or head and neck region (Fig. 13). The pigmentation often isvariegated from light brown to black. The affected skin may be smooth, nodular,or leathery in consistency. Prominent dark hypertrichosis is often present. Almostinvariably, numerous smaller, 1 to 5-cm, light brown patches, the so-called‘‘satellite nevi,’’ are distributed diffusely. Approximately 6% to 8% of thesepatients develop malignant melanoma in the nevus over a lifetime [17]. Rarely,other malignant tumors have been reported in these lesions (rhabdomyosarcoma,neuroblastoma, liposarcoma). Neurocutaneous melanosis is rarely associated withgiant congenital melanocytic nevi in an axial distribution. These patients maypresent with hydrocephalus, seizures, and death from an intracranial melanoma inearly childhood. Because of the significant incidence of malignant degeneration,
  16. 16. 878 J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 Fig. 13. Giant congenital melanocytic nevus on upper back.the hideous deformity, and the intense pruritus that may accompany these lesions,surgical excision is usually attempted. This process is usually done in stages, andthe use of tissue expansion techniques has greatly enhanced the ability to obtainacceptable cosmetic results after surgical removal of large lesions.Developmental anomalies Developmental abnormalities of the skin are a diverse group of anomalies thatrepresent errors in morphogenesis. By definition, they are present at birth, andmost are diagnosed in infancy. They may range in severity from the incon-sequential to the serious, and in some instances they represent a marker for moresignificant extracutaneous developmental abnormalities [18]. Supernumerary digits may be small pedunculated papules to normal-sized andappearing digits containing cartilage, bone, and nail. These anomalies may bebilateral or multiple; however, they are likely to be solitary and on the ulnar sideof the fifth digit (Fig. 14). Ligation with suture should not be attempted. This mayresult in skin necrosis, infections, and painful neuromas, even outside the Fig. 14. Patient with supernumerary digit.
  17. 17. J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 879 Fig. 15. Hair collar sign. This patient had an underlying dermal sinus.newborn period. Instead, supernumerary digits should be surgically excised withcareful dissection of the associated nerve if present [19]. Cranial dysraphism is a general term for defects in cranial closure. Morespecific terms, such as cephalocele and meningocele, represent the herniation ofintracranial structures, tissue, and fluid or the meninges and cerebrospinal fluidthrough a defect in the cranium, respectively. Large lesions rarely presentdiagnostic challenges; however, smaller lesions are often missed or improperlydiagnosed. All exophytic scalp nodules should be extensively evaluated, becauseup to one third of all congenital, nontraumatic scalp nodules have connection tothe underlying central nervous system [20]. The clinical appearance of cephaloceles is variable. They are usually soft,compressible, round nodules that appear in or near the midline of the frontal,parietal, and occipital regions. They may be covered with blue translucent filmor normal skin. Other cutaneous clues may raise the suspicion of cranial dys-raphism. These include the ‘‘hair collar sign,’’ capillary malformations, cutaneousdimples, or sinuses. The hair collar sign (Fig. 15) is visible as ring of more dense, Fig. 16. Human tail with underlying lipoma in an infant with a lipomyelomeningocele.
  18. 18. 880 J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888Table 2Cutaneous lesions associated with spinal dysraphismHigh index of suspicion Low index of suspicionHypertrichosis TelangiectasiaDimple (large, 2.5 cm from anal verge) Capillary malformation (port wine stain)Acrochordans/pseudotails/true tails HyperpigmentationLipomas Melanocytic neviHemangiomas Small sacral dimples ( 2.5 cm from anal verge)Aplasia cutis or scar TeratomasDermoid cyst or sinusAdapted from Drolet BA, Conlon JD. Developmental abnormalities. In: Eichenfield LF, Frieden IF,Esterly NB, editors. Textbook of neonatal dermatology. Philadelphia: WB Saunders; 2001. p. 123.darker, and course hair (versus the normal scalp hair) surrounding the defect [21].This finding may also be associated with aplasia cutis [22]. Incomplete fusion of the spinal axis, or spinal dysraphism, may be clinicallyobvious, or more frequently subtle to imperceptible. The small, often, occultanomalies, such as a tethered cord, may be asymptomatic until later in life. Earlydiagnosis of these malformations may lead to interventions that might prevent thedevelopment of permanent neurologic consequences. Cutaneous lesions may bethe first clue to these underlying defects. Knowledge of these skin findings allowsa health care provider to determine the necessity of further evaluation andimaging to rule out spinal dysraphism. As always, a thorough history and physical examination should be performed,because it may provide valuable additional insight. Frequent fevers, urinary tractinfections, recurrent meningitis, or a positive triple screen can raise suspicion inthe neonatal period. The entire vertebrae should be visualized and palpated.Furthermore, careful inspection of the urogenital system and rectum may revealabnormalities associated with incomplete closure of the spinal axis [23]. The cutaneous markers that are most likely to signal the presence ofunderlying occult spinal dysraphism include hypertrichosis, large dimples, trueor pseudotails (Fig. 16), lipomas, hemangiomas, absence of skin, and cystic orsinus tract lesions (Table 2) [24 – 26]. These lesions are typically found in themidline lumbosacral region, but may be found anywhere along the vertebralcolumn. Their presence should prompt ultrasonographic or magnetic resonanceimaging of the spine.Selected inherited blistering diseases Epidermolysis bullosa (EB) is a group of rare inherited blistering disorderscharacterized by blister formation caused by minor frictional trauma [27]. Thesediseases are the result of various genetic defects in essential dermal-epidermaladhesion molecules, which anchor the basal keratinocytes to the underlying
  19. 19. J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 881papillary dermis. Over 20 subtypes of EB are described, and they have beendivided into three major forms (simplex, junctional, and dystrophic), based on thelevel of skin separation, the pattern of inheritance, and the presence or absence ofscarring. In several variants, internal involvement may occur, and may be life-threatening. Because blister formation is due to defective adhesion componentsand not antibody-mediated, inflammation is not found in EB. Six subtypes of epidermolysis bullosa simplex (EBS) have been described,with all but one being inherited in an autosomal dominant fashion. A very rareform of EBS associated with muscular dystrophy is inherited in an autosomalrecessive pattern. EBS is the clinical manifestation of defective keratin filaments,which result in fracturing of the keratinocytes within the epidermis. Thesubsequent blister is superficial and heals without scarring. The blistering isoften congenital from passage through the birth canal. In the neonate, blisteringand large erosions primarily affect the feet, hands, neck, and lower legs. Asthe child begins to crawl and walk, blister formation is predominantly seen onthe knees, feet, buttocks, elbows, and hands. The severity of each phenotypevaries greatly. Junctional epidermolysis bullosa (JEB) is an autosomal recessive disorderwith subepidermal blistering occurring within the dermal-epidermal junction.Several key molecules that help form the hemidesmosomes of the skin aredefective or absent in JEB. Several subtypes of JEB have been described,encompassing a spectrum from life-threatening disease to relatively minorinvolvement. Herlitz-JEB is the most severe variant of all EB patients, and isassociated with a 50% to 80% mortality in the first 2 years of life. Theseinfants have massive erosions that heal very slowly, often forming thickgranulation tissue. The nail plates are often absent at birth, replaced by exuberantgranulation tissue. Because of the large erosions, these infants are prone toinfection, electrolyte imbalance, temperature instability, and high metabolicdemands. Herlitz-JEB is associated with airway disease as well as numeroussystemic complications, including growth retardation, ocular problems, andseveral gastrointestinal diseases. One subset of JEB is associated with pyloricatresia [28]. In dystrophic epidermolysis bullosa (DEB), blister formation occurs below thedermal-epidermal junction in the superficial papillary dermis. It is inherited inboth autosomal dominant and recessive patterns, with the dominant variant beingmild and the recessive form much more severe. In recessive dystrophic-EB,widespread blistering begins at birth and results in contractures with markedscarring and milia formation. Fusion of the digits with encasement of the fingersand toes and subsequent autoamputation leads to the classic ‘‘mitten deformities’’of recessive dystrophic-EB. Systemic involvement may be severe, with gastro-intestinal complications being the most common. During infancy and early child-hood, septicemia, pneumonia, and overwhelming secondary cutaneous infectionsmay arise. Patients who have recessive dystrophic-EB are also at increased riskfor the development of nonmelanoma skin cancers. As a rule, nail changes areseen in all forms of DEB.
  20. 20. 882 J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 As a general rule, the management of all forms of EB is symptomatic andpalliative, consisting of good wound care, prevention of trauma, and treatmentof infection. Incontinentia pigmenti is a rare, X-linked dominant disorder that affects theskin, bones, eyes, and central nervous system. Almost all patients are female, butaffected males have been reported and are thought to represent genetic mosaicismor Klinefelter syndrome. The cutaneous lesions usually are present at birth and have three distinctmorphologic stages. Initially there are 2- to 4-mm, clear-to-yellow vesicles,which are clustered in a linear configuration. These vesicular lesions appear incrops during the first few weeks of life and most commonly occur on the trunkand limbs. At times they appear distinctly pustular or crusted. Gray to brown,warty, linear and swirled plaques develop next; these are most prominent on thedistal limbs. The third stage consists of patterned, macular brown hyperpigmen-tation in streaks and whorls on the trunk and extremities. Occasionally, pigmen-tation may accompany some of the early lesions, and all three more morphologiesmay be present at the same time. A fourth stage, consisting of atrophichypopigmented streaks, has been described during adulthood in some individu-als. Nail hypoplasia, areas of alopecia, and ocular and skeletal abnormalities alsomay be detected. Delayed dentition, partial anodontia, and abnormalities of thecentral nervous system (CNS) can occur, but may not be apparent during theneonatal period. There is often peripheral eosinophilia during the vesicularphase of the disease. The diagnosis should be considered when inflammatoryvesicles arranged in lines are seen in a newborn female infant. Biopsy of a smallblister demonstrates a subcorneal vesicle filled with eosinophils. No specifictherapy is required for the skin lesions; if inflammation becomes excessive duringthe vesicular phase, treatment with compresses and topical steroids may behelpful. An ophthalmologic examination is indicated for all infants who havethis disorder.Miscellaneous skin disordersMastocytosis The abnormal proliferation of mast cells in the skin is referred to asmastocytosis, and, depending on the extent of involvement, can lead to variousmanifestations, including mastocytoma, urticaria pigmentosa, and diffuse cuta-neous mastocytosis. Mastocytoma appears as one or several, isolated, skin-colored to light yellow-brown, 1 to 5-cm macules, nodules, or plaques, typicallyon the trunk or extremities. Mastocytomas are the most common presentation ofmastocytosis in the neonate. They are often transient and frequently exhibit awheal and flare phenomenom with stroking, a positive Darier’s sign. Bullouslesion may develop. Most lesions of mastocytoma resolve spontaneously beforeadolescence. Mastocytosis may also present as urticaria pigmentosa (UP) or
  21. 21. J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 883diffuse cutaneous mastocytosis (DCM). These entities represent progressivelymore extensive infiltration of the skin with mast cells, with potential involvementof the viscera, albeit rare in both. The lesions tend to be smaller, darker, andyellow-red pigmented, with more diffuse involvement. DCM may present asgeneralized thickening of the skin, often being described as ‘‘doughy.’’ Thepredominant symptom in all is pruritus. Additional symptoms, depending the onextent of involvement, may be present, including flushing, hypotension, diarrhea,vomiting, or abdominal pain. These may be controlled by the use of hydroxyzine,long-acting antihistamines, H2 blockers, or oral cromolyn sodium, if warranted.Agents that trigger histamine release (eg, narcotics, aspirin, or alcohol) should beavoided. Resolution in the second decade is the typical course; however, somemay persist or even progress with advancing age.Zinc deficiency and acrodermatitis enteropathica Zinc is an essential elemental nutrient required for normal growth and de-velopment [29]. Low levels of zinc may result from malabsorption or inadequateintake. In acrodermatitis enteropathica, a rare, autosomal recessive disorder, theability to absorb zinc is impaired. The child presents with eczematous erosionsand plaques located in the periorificial, acral, and diaper areas; creating possibleconfusion with atopic and seborrheic dermatitis. Diarrhea and alopecia mayalso be present. An infant may also develop similar findings secondary toinadequate intake of zinc. This zinc deficiency dermatitis occurs most commonlyin premature infants who have high nutritional demands, or in infants beingbreast fed by mothers who have low or absent levels of zinc in their breast milk[29]. The diagnosis in both acrodermatitis enteropathica and zinc deficiencydermatitis is made by measurement of serum zinc levels. Supplementation withzinc sulfate leads to rapid resolution, and lifelong treatment may be required foracrodermatitis enteropathica.Ichthyotic disorders Ichthyosis is a term that is used to describe excessive scaling of the skin. Thereare four distinct subtypes of ichthyosis: (1) lamellar, (2) X-linked, (3) epider-molytic hyperkeratosis, and (4) vulgaris. Ichthyosis in the newborn period maypresent with scaling, erythroderma, collodion membrane, or the thickened platesof harlequin ichthyosis. Two descriptive terms have been used for ichthyoticconditions that occur only in the newborn: harlequin ichthyosis (harlequin fetus)and collodion baby. Harlequin ichthyosis (harlequin fetus) is an extremely rare and very severedisorder of keratinization inherited as an autosomal recessive trait. The skin ofaffected infants is markedly thickened, hard (armorlike), and with deep crevicesrunning both transversely and vertically. The fissures are most prominent overareas of flexion. Rigidity of the skin around the eyes results in marked ectropion,although the globe is usually normal. The ears and nose are underdeveloped,
  22. 22. 884 J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888flattened, and distorted. The lips are everted and gaping, thus producing a ‘‘fishmouth’’ deformity. Extreme inelasticity of the skin is associated with flexiondeformity of all joints. The hands and feet are ischemic, hard, and waxy inappearance, with poorly developed distal digits. Most harlequin fetuses are born prematurely, between 32 and 36 weeks’gestation, adding to their morbidity and mortality. Complications include sepsis,distal gangrene, and difficulties with feeding and respiration. Most infants die inthe neonatal period. Aggressive topical care is required for these infants,including a humid environment, liberal use of bland emollients, and carefulmonitoring of electrolyte needs. The collodion baby is less severely affected than the infant who has harlequinichthyosis and also may represent a phenotypic expression of several genotypes.Infants affected with this condition usually have lamellar ichthyosis or congenitalichthyosiform erythroderma. Sjogren-Larsson syndrome, Conradi-Hunermannsyndrome, trichothiodystrophy, dominant lamellar ichthyosis, and neonatalGaucher’s disease account for the remainder of the infants born with a collodionmembrane. Rarely, shedding of the collodion membrane results in a normalunderlying integument (lamellar exfoliation of the newborn). Collodion babiesoften are born prematurely. The infant is covered with a cellophanelike mem-brane, which by its tautness may distort the facial features and the digits. Lesscommonly, only part of the integument is involved. The membrane is shiny andbrownish-yellow, resembling an envelope of collodion or oiled parchment, andmay be perforated by hair. The presence of ectropion, eclabium, and crumpledears causes these infants to resemble one another for the first few days of life.Fissuring and peeling begin shortly after birth, and large sheets may desquamate,revealing erythema of variable intensity. Once the membrane has fissured, norespiratory difficulties are encountered. Complete shedding of the collodionmembrane may take several weeks. Despite the apparent thickened skin, theseinfants have an abnormal epidermal barrier that may lead to complications suchas dehydration, electrolyte imbalance, and temperature instability, as well ascutaneous and systemic infection. Pneumonia from aspiration of squamous cellsfound in the amniotic fluid is another potential complication. The infant shouldbe placed in an environment with increased humidity, and prompt attention paidto signs of infection. A bland emollient will suffice for lubrication during theneonatal period. X-linked ichthyosis is a rare disorder that may cause alterations in the skin,eye, and testes of affected infants. Steroid sulfatase (arylsulfatase) deficiency isthe cause of the clinical manifestations of X-linked ichthyosis. Most, but notall, patients have cutaneous findings at birth and 80% to 90% show scaling by3 months of age. Rarely, a collodion membrane may be present. The hyperkera-tosis is variable, but typically the scales are large, thick, dark and prominent overthe scalp, neck, anterior trunk, and extensor extremities. Sparing of palms andsoles and partial sparing of the flexures are helpful diagnostic features. Systemicmanifestations are generally absent, and complications are rare. This form ofichthyosis is clinically apparent in affected males but not in heterozygous
  23. 23. J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 885females. Cryptorchidism is seen in approximately 25% of affected males; thesepatients may be at increased risk for testicular cancer. Deep stromal cornealopacities have also been found in about 50% of males who have the disorder,and in a smaller percentage of female carriers, but they do not affect vision.Female carriers of the gene for X-linked ichthyosis, when pregnant with anaffected male fetus, have a deficiency of placental steroid sulfatase, reflected bylow maternal urinary estriol excretion and a difficult or prolonged labor oftenrequiring intervention. Babies affected with the rare condition multiple sulfatase deficiency may havesimilar cutaneous findings, but also have systemic features of a storage disease(metachromatic leukodystrophy), because they have a deficiency of several othersulfatases. Approximately 10% of patients will have a contiguous gene deletionsyndrome; this condition results from a larger deletion of the terminal short armof the X chromosome. Deletion of the genes that are contiguous with the steroidsulfatase gene may result in mental retardation, Kallmann syndrome, and a bonedysplasia (X-linked recessive chondrodysplasia punctata). Infants who have lamellar ichthyosis may have collodion membranes at birth,and are commonly of low birth weight. After the collodion membrane is shed,mild erythroderma, large, dark, plate-like scales, severe ectropion, alopecia, andmoderate keratoderma of the palmar and plantar surfaces characterize thephenotype. These children have involvement of their entire skin surface, whichresults in severe disfigurement, particularly of the face. Generally, the condition isinherited as an autosomal recessive trait. Patients who have this type of ichthyosismay suffer severe heat intolerance as a result of plugging of the eccrine glandducts. In severely erythrodermic patients, growth retardation may be a compli-cating factor. Some patients who have the lamellar phenotype have been found tohave mutations in keratinocyte transglutaminase I. Neonates who have congenital nonbullous ichthyosiform erythroderma usu-ally have a collodion membrane at birth. It may be very difficult to differentiatethese infants from patients who have lamellar ichthyosis in the neonatal periodand in early childhood. Generally they tend to have more erythema and finerscale than are seen in patients who have lamellar ichthyosis. As the child ages, theskin continues to be red-pink, with diffuse fine scaling and mild keratoderma,much less prominent than in children who have lamellar ichthyosis. The infant who has epidermolytic hyperkeratosis (bullous congenital ichthyo-siform erythroderma) may have large areas of denuded skin and has recurrentblistering in the neonatal period. These skin lesions may be confused with thoseof staphylococcal scalded-skin syndrome or epidermolysis bullosa. Traumashould be avoided, and applications of antibacterial preparations and nonocclu-sive moisturizers should be used as needed. Bullous lesions become lessprominent as the infant grows older, and may eventually disappear completely.Hyperkeratosis becomes more pronounced as the child ages, particularly in theflexural areas, in which the dark, warty scales often assume a ridged pattern.Maceration and secondary bacterial colonization result in a strong unpleasantodor that is difficult to eradicate. The histopathologic picture in epidermolytic
  24. 24. 886 J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888hyperkeratosis is diagnostic and consists of vacuolization of the epidermis,abnormally large, clumped keratin granules, hyperkeratosis, and an increasedgranular layer. Obtaining an accurate family history is critical because thisdisorder is inherited as an autosomal dominant trait. The gene defects of epider-molytic hyperkeratosis have been found in the DNA that encodes for keratins1 and 10. Ichthyosis vulgaris is a common, less severe form of scaling that is inheritedas an autosomal dominant disease. Fine white scales without significant erythemabecome prominent by 6 to 9 months of age. The scaling is most prominent on thelower legs and buttocks; the face is usually spared. Associated skin conditionsinclude keratosis pilaris and atopic dermatitis. The diagnosis is made clinically,and treatment consist of bland emollients.Histiocytosis Langerhan’s cell histiocytosis is a rare proliferative disorder most often seen inyoung infants. Classically, the disease is caused by infiltration of the skin, bone,and viscera with histiocytes. Historically, several different subtypes of Langer-hans’ cell histiocytosis have been described; however, currently they are allconsidered to be within the spectrum of the same disease process [30]. It isvariable in its presentation and the clinical course varies from self-limited skinnodules to progressive multisystem disease. Congenital skin lesions of histio-cytosis present as small, 2- to 10-mm, firm, often necrotic, papules. The numberof lesions is variable, but most often they range from 2 to 12. Rarely, the infiltratemay cause hemorrhagic vesicles with a central umbilication. They may occur atany site, but have a predilection for the groin and palms and soles. Largerulcerated nodules or tumors may be present. Older infants may present with aneczematous eruption in the groin and scalp. The scalp dermatitis often mimicsseborrheic dermatitis. Oral lesions result in gingival hyperplasia, ulceration, andnatal teeth. Extracutaneous findings include lytic bone lesions, exopthalmos,diabetes insipidus, lymphadenopathy, hepatosplenomegaly, and invasion of thelungs and gastrointestinal tract. Diagnosis is made by skin biopsy, which typicallyreveals dermal infiltrate of histiocytes that are S-100 and Cd1A positive.Summary The concise discussions of the preceding topics are by no means all-inclusive,but highlight the prerequisite ability of all pediatric health care professionals torecognize both normal and abnormal dermatologic conditions and their signifi-cance. Cultivated by worried parents who had persistent questions regardingdifferent skin lesions and pioneering physicians, the field of neonatal dermatol-ogy was long ago seeded and continues to grow. Advances in skin biology andgenetics will undoubtedly lead to further growth and understanding, as well as toexciting new potential diagnostic and therapeutic modalities.
  25. 25. J.D. Conlon, B.A. Drolet / Pediatr Clin N Am 51 (2004) 863–888 887References [1] Lucky AW. Transient benign cutaneous lesions in the newborn. In: Eichenfield LF, Frieden IJ, Esterly NB, editors. Textbook of neonatal dermatology. Philadelphia: WB Saunders; 2001. p. 88 – 102. [2] Alper JC, Holmes LB. The incidence and significance of birthmarks in a cohort of 4641 newborns. Pediatr Dermatol 1983;1:58 – 68. [3] Feng E, Janniger C. Miliaria. Cutis 1995;55:213 – 6. [4] Harris JR, Schick B. Erythema neonatorum. AMA J Dis Child 1956;92:27 – 33. [5] Carr JA, Hodgenab JE, Freedman RI, et al. Relationship between erythema toxicum and infant maturity. Am J Dis Child 1966;112:129 – 34. [6] Barr RJ, Globerman LM, Werber FA. Transient neonatal pustular melanosis. Int J Dermatol 1979;18:636 – 8. [7] Ferrandiz C, Coroleu W, Ribera M, et al. Sterile transient neonatal pustulosis is a precocious form of erythema toxicum neonatorum. Dermatology 1992;185:18 – 22. [8] Lucky AW. A review of infantile and pediatric acne. Dermatology 1998;196:95 – 7. [9] Murphy WF, Langly AN. Common bullous lesions—presumably self-inflicted—occuring in utero in the newborn infant. Pediatrics 1963;32:1099 – 100.[10] Frieden IJ, Howard R. Vesicles, pustules, bullae, erosions, and erosions. In: Eichenfield LF, Frieden IJ, Esterly NB, editors. Textbook of neonatal dermatology. Philadelphia: WB Saunders; 2001. p. 137 – 78.[11] Darmstadt G, Lane AT. Impetigo: an overview. Pediatr Dermatol 1994;11:293 – 303.[12] Baley JE. Neonatal candidiasis: the current challenge. Clin Perinatol 1991;18:263 – 80.[13] Drolet BA, Esterly NB, Frieden IJ. Hemangiomas of children. N Engl J Med 1999;341: 1257 – 67.[14] Enjolras O, Mulliken J. Vascular tumors and vascular malformations, new issues. Adv Dermatol 1998;13:375 – 423.[15] Enjolras O, Riche MC, Merland JI. Facial port-wine stains and Sturge-Weber syndrome. Pedi- atrics 1985;76:48 – 51. ´[16] Korf BR. Diagnostic outcome of children with cafe au lait spots. Pediatrics 1992;90:924 – 7.[17] DeDavid M, Orlow S, Provost N, et al. A study of large congenital nevi and associated malig- nant melanoma: review of cases in the New York University registry and the world literature. J Am Acad Dermatol 1997;36:409 – 41.[18] Drolet BA. Developmental abnormalities. In: Eichenfield LF, Frieden IJ, Esterly NB, editors. Textbook of neonatal dermatology. Philadelphia: WB Saunders; 2001. p. 117 – 36.[19] Freiden IJ, Chang MW, Lee I. Suture ligation of supernumerary digits and ‘‘tags’’: an outdated practice? Arch Pediatr Adolesc Med 1995;149:1284.[20] Powell K, Cherry J, Hougen T, et al. A prospective search for congenital dermal abnormalities of the craniospinal axis. J Pediatr 1975;87:744 – 50.[21] Drolet B, Clowry Jr J, McTigue K, et al. The hair collar sign: a cutaneous marker for neural tube dysraphism. Pediatrics 1995;96:309 – 13.[22] Drolet B, Prendville J, Golden J, et al. Membranous aplasia cutis with hair collars: congenital absence of skin or neuroectodermal defect? Arch Dermatol 1995;131:1427 – 9.[23] Karrer F, Flannery A, Nelson M, et al. Anorectal malformations. Evaluation of associated spinal dysraphic syndromes. J Pediatr Surg 1988;23:45 – 8.[24] Assaad A, Mansy A, Kotb M, et al. Spinal dysraphism: experience with 250 cases operated upon. Childs Nerv Syst 1989;5:324 – 9.[25] Hall D, Udvarhelyi G, Altman J. Lumbrosacral skin lesions as markers for occult spinal dys- raphism. JAMA 1981;246:2606 – 8.[26] Tavafoghi V, Ghandchi A, Hambrick G, et al. Cutaneous signs of spinal dysraphism: report of a patient with a tail-like lipoma and review of 200 cases in the literature. Arch Dermatol 1978;114:573 – 7.[27] Fine JD, Eady RA, Bauer EA, et al. Revised classification system for inherited epidermolysis
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