2. • Neonatal period: first 4 weeks of extrauterine life
NEONATAL SKIN IN COMPARISON WITH ADULT
• Thinner epidermis
• Higher epidermal proliferation and desquamation rate
• Higher transepidermal water loss
• Thinner, less hairy, weaker intercellular attachment
• Fewer eccrine and sebaceous gland secretions
• Increased susceptibility to external irritants
• Increased susceptibility to microbial infection
4. VERNIX CASEOSA
• White, creamy, naturally occurring biofilm
covering the skin of the fetus during the last
trimester of pregnancy
• Composed of degenerated fetal epidermis
(Periderm) and sebaceous secretions
• Very low birth weight infants, i.e., <28 weeks'
gestation and < 1000g lack the protective
mantle of vernix caseosa
• At birth, vernix may cover the entire skin
surface or only confined to body folds.
5. Function:
• It performs an epidermal barrier function in utero to facilitate epidermal
growth underneath it
• Acts as an antimicrobial cover, protect against the bacteriologically rich
environment of the mother's genital tract
• Thermal regulation
• Antioxidant properties by virtue of the presence of antioxidants vitamin-E and
melanin in it
• Its color may reflect intra-uterine problems such as hemolytic disease of
newborn, post maturity, where it is of golden yellow color. Fetal distress in
utero may stain vernix by bile pigments present in meconium.
6. CUTIS MARMORATA
• Benign cutaneous vascular phenomena seen in
neonates as an accentuated physiologic vasomotor
response to cold.
• Reticulate, bluish mottling of skin on trunk and
extremities.
• Usually disappear as the infants is rewarmed.
• It’s persistence is seen in Downs syndrome, trisomy-18,
hypothyrioidism.
7. CUTIS MARMORATA
TELANGIECTATICA CONGENITA
• Congenital, vascular malformation, Present since
birth
• Characterised by fixed patches of mottled skin with
a marbled or reticulate blue to pale purple patches
• Does not disappear after warming (Unlike cutis
marmorata)
• Skin may appear indented due to dermal atrophy
• Localized or generalized. When localized, lesion
tends to remain unilateral, do not cross the midline,
and it may be sharply demarcated
• Limbs are more commonly affected
8. • Several congenital abnormalities associated –
Craniofacial, Neurological, Vascular, Skeletal,
Hypothyroidism
• Clinical Diagnosis
• TREATMENT-
• Most of the lesions improve in the first 2 years of
life. Therapy should be deferred to await
spontaneous improvement
• Monitor for development of associated
abnormalities
9. SUCKING BLISTER
• A blister or denuded area seen in neonates, usually seen
on the forearm, wrist and fingers
• Due to vigorous sucking in utero
• 0.5% of newborn
• One or two solitary clear bullous lesion with no
surrounding erythema. Can also present as an erosion or
a crusted lesion
Treatment:
• None, heal rapidly without sequelae
• Topical antibiotic/Dressing as needed if eroded
10. ACROCYANOSIS (PERIPHERAL CYANOSIS)
• Functional peripheral vascular disorder characterized by
bluish discoloration of skin
• Caused by vasospasm of the small vessels of the skin in
response to cold
• Usually particularly marked on the palms, soles and
around the mouth
• Absence of cyanosis of warm central parts
• Resolves with warming of the skin
• Recurrence unusual after 1 month of age
11. TOXIC ERYTHEMA OF NEWBORN
(ERYTHEMA TOXICUM NEONATORUM)
• Benign, self-limiting disorder of unknown etiology
• Most commonly, the eruption initially takes the form
of a blotchy, macular erythema
• Most commonly on the trunk, face and proximal parts
of the limbs (palms and soles not involved)
• In more severe cases, urticarial papules arise within
the erythematous areas, may be surmounted by small
pustules
12. • Onset rarely at birth, but in the first few days after birth
• Usually fade over 3-7 days, but recurrences may occur
for upto 6 weeks
• Systemic symptoms are absent
Investigations:
• Mostly a clinical diagnosis
• Smear of pustule contents will reveal numerous
eosinophils
• Negative bacterial and viral cultures
13. • Histologically
– the macular erythema shows oedema in the upper dermis, perivascular
inflammatory infiltrate comprising principally of eosinophils
– Papular lesions shows eosinophilic infiltration of the outer root sheath of one or
more hair follicles, above the point of entry of the sebaceous duct.
– Pustular lesions show intrafollicular accumulation of eosinophils immediately
below the stratum Corneum
• An associated blood eosinophilia of up to 20% of the white cell count
Treatment:
• No specific treatment
• Supportive
14. TRANSIENT NEONATAL PUSTULAR MELANOSIS
• Idiopathic pustular eruption that heals with brown
pigmented macules
• Usually present at birth, more common in black neonates
• Characterized by 1–3 mm, flaccid, superficial, fragile
pustules with no surrounding erythema
• Site – Any site, but predominantly in the chin, forehead,
axilla and nape of the neck.
• Eventually the pustules rupture and form brown crust
and finally a small collarette of scales
15. • Pustular lesions usually resolve within 24-48 hours
• Hyperpigmented macules may persist for about 3 months,
sometimes already present at birth
Investigation:
• Smear from pustules content reveals predominance of
neutrophils with occasional eosinophils
• Bacterial culture negative
• Biopsy shows intra or subcorneal collections of neutrophils
with a few eosinophils. Pigmented macules demonstrate
basal and supra-basal increase in pigmentation, without any
pigmentary incontinence
Treatment: No treatment, self resolving
16. ACROPUSTULOSIS OF INFANCY
• Condition of unknown etiology, characterized by
recurrent crops of pruritic, vesiculopustular lesions with
a predilection for the palms and soles
• Onset is usually in the first 3 months of life but lesions
may sometimes be present at birth
• Can also occur on the dorsa of the feet, hands, fingers,
ankles, and forearms
• Lesions appear to start as tiny, red papules, which evolve
into vesicles and then pustules over about 24 hr
• Each crop lasts for 7–14 days, and tend to occur at
intervals of 2–4 weeks
17. • Healing is succeeded by macular postinflammatory hyperpigmentation.
Investigations:
• Smears from the pustule content show predominance of eosinophils and later
neutrophils.
• Cultures are sterile
• Histopathology would reveal well-circumscribed subcorneal or intraepidermal
aggregations of neutrophils with a sparse lymphohistiocytic infiltrates in the
papillary dermis
Treatment:
• Potent topical corticosteroids
18. MILIA
• Benign, keratinous cysts, which affect about 40-50%
of newborn babies
• Small, firm, pearly- white papules, 1-2 mm in size
predominantly occurring on the face of newborn
babies
• Site - cheeks, nose, nasolabial fold and forehead
• Treatment - Usually disappear spontaneously during
first 3-4 weeks.
• D/D molluscum contageosum – does not usually
appear in immediate neonatal period, Sebaceous
gland hyperplasia-yellow rather than whitish
19. EPSTEIN PEARLS
• Yellowish white, keratinous cysts, 1–2 mm diameter,
• Seen in up to 85% of all neonates
• Site - Along the alveolar ridges and/or in the midline
at the junction of the hard and soft palate
• Treatment - Generally disappear without treatment
within a few weeks
20. SEBACEOUS GLAND HYPERPLASIA
• Common benign proliferation of the sebaceous glands
seen during the first weeks of life
• Result from maternal androgenic stimulation of
sebaceous gland
• Multiple, uniform, pinpoint, yellowish papules 1–3 mm in
diameter most prominent on the nose, cheeks, upper lip
and forehead
• Treatment - Resolves within few weeks
21. MILIARIA
• Miliaria is a disorder due to blockage of eccrine sweat
ducts
• Subdivided into three subtypes depending on the level of
blockage: miliaria crystallina (stratum corneum), miliaria
rubra (mid‐epidermal) and miliaria profunda (dermal–
epidermal junction)
• 3–8% of neonates
• Predisposing factors - Immature sweat ducts, Occlusive
clothing, high heat and humidity
22. Miliaria crystallina:
• Presents as crops of clear, thin‐walled, superficial vesicles
1–2 mm in diameter, without associated erythema.
• Generally rupture within 24 h, and are followed by bran-
like desquamation
• Presence of intracorneal or subcorneal vesicles in
communication with the sweat ducts
• Most frequently during the first 2 weeks of life, and are
particularly likely to be seen on the forehead, scalp, neck
and upper trunk
23. Miliaria rubra (prickly heat):
• Erythematous papules and papulovesicles about 1–4
mm in diameter, on a background of macular erythema
• Usually begin after second week of life and
predominate in the trunk and intertriginous areas
where occlusion by clothing is accentuated
• Lesions can be itchy or sore, child may be restless and
distressed
• Miliaria profunda is very uncommon in neonates as it
usually occurs in adults where there have been
repeated episodes of miliaria rubra.
24. Investigations:
• Clinical diagnosis
• Smear of a vesicle/pustule will show an absence of eosinophils
Treatment:
• Light clothing, cool bath and avoidance of heavy blankets
• Miliaria crystallina improves spontaneously as the sweat ducts mature
• Milaria rubra improves if the predisposing aetiological factors (high heat/humidity
and occlusion) are removed
• Antibiotics may be needed if staphylococcal infection occurs, but this is rare.
25. BIRTHMARKS (CONGENITAL NAEVI)
• Birthmarks are congenital, benign irregularity on the skin which is present at
birth or appears shortly after birth
• Represent an excess of one or more of the normal components of skin per
unit area: blood vessels, lymph vessel, pigment cells
• Vascular birthmarks are most common.
26. SALMON PATCH (NEVUS SIMPLEX)
• Most common vascular birthmark of infancy. Seen
in 40% of all newborns
• Cause: Area of superficially dilated capillaries
• Appears as irregular dull, pinkish – red macules with
poorly defined borders
• Site - On the face (angel kiss), nape of neck (stork
bite)
• Become more intense in colour when child is crying
• Most of these lesions spontaneously disappear
within a year.
27. PORT WINE STAIN (NAEVUS FLAMMEUS)
• Vascular birthmark, about 0.3% of newborns
• Large, irregular, deep red or purple macule with well
defined borders
• Usually unilateral, often on the face.
• Represents a vascular malformation involving mature
capillaries.
• Lesions do not enlarge but persist throughout life
Treatment:
• Pulsed dye laser
• Cosmetic masking, excision, grafting
28. STRAWBERRY MARK (CAPILLARY HAEMANGIOMA)
• Localised superficial haemangioma
• Usually not present at birth, develops during first few
weeks of life. Present in about 10% of infants
• Most of them start off as small red macules and usually
grow rapidly during the first four or five months of life
• Later appear as circumscribed oval or round, soft domed
swelling of intense scarlet-red color.
• Site – Head, neck region and trunk
• Over 90 percent disappear by the age of 7 years
• Treatment - Vascular specific Pulsed dye laser
29. MONGOLIAN SPOTS
• Blue-gray, poorly circumscribed, single or multiple,
macular lesion of various sizes
• Entrapment of melanocytes in dermis of developing
embryo, the cells fail to reach their proper location in
the epidermis
• Usually present at birth or appears within the first weeks
of life
• Most commonly over lumbosacral region
• Common in asian, black and hispanic infants
• Most fade during first two years of life
• Persist – Q switch laser, bleaching creams
30. CONGENITAL MELANOCYTIC NEVI (CMN)
• Benign proliferations of cutaneous melanocytes that arise
as a result of abnormal growth, development, or
migration of melanoblasts
• Affecting approximately 1% of newborns
• Present at birth or become apparent within the first year
of life
• Round or oval with smooth, well-defined borders, and the
surface texture can be papular, verrucous, or cerebriform
• Initially a nevus may be light in color, flat, or hairless, it
can become more pigmented, raised, and acquire long,
coarse hairs
31. • Lesions classified according to size - small <1.5cm, medium 1.5cm-20cm, large
>20cm in greatest diametrer or covering >2% BSA.
• Lifetime risk for malignant transformation depends largely on size, from 0-5% for
small CMN, and 5-10% for large CMN
• 70% of melanomas occur within the first decade of life
• Naevi over the cranium or spine have association with Neurocutaneous
melanosis
Treatment:
• Early treatment with full-thickness excision followed by grafting, otherwise
close observation
• Dermabrasion, chemical peels, and lasers improve cosmetic appearance
32. NEVUS OF OTA
• Extensive, bluish, patchy, unilateral dermal melanocytosis
that affects the sclera and the skin adjacent to the eye,
distributed along the first and the second branches of the
trigeminal nerve
• More common in Asians (0.014-0.034%) and blacks
• Most are present at birth or develop during first year of life
• Nevus of ITO – Same features as OTA, only distinguished by
location in the acromioclavicular region and the upper chest.
• Treatment - Q‐switched lasers, Cosmetic camouflage
33. BLUEBERRY MUFFIN BABY
• Widespread, purple, erythematous, oval or circular macules,
papules and nodules reflecting dermal erythropoiesis
• May be frank petechiae on the surface of some of the lesions
• Generalized distribution of 1 to 7 mm purpuric papules,
especially on head, neck, and trunk
• Generally fade into light brown macules within a few weeks
of birth
• This type of lesion has been recorded in a number of
congenital infections (Rubella, cytomegalovirus, Coxsackie
B2, syphilis, toxoplasmosis ) and a variety of disorders
(Rhesus haemolytic anaemia, ABO incompatibility, Neonatal
lupus erythematosus etc)
34. APLASIA CUTIS CONGENITA
• A rare disorder characterized by a focal absence of
epidermis, dermis, and in some cases subcutaneous
tissues – including bone and dura mater
• Most presentations (80–90%) involve the vertex of the
scalp
• Estimated rate of incidences is 1-3 in 10,000 births
• Oval, sharply marginated, depressed, hairless area
covered by wrinkled epithelial membrane, or may appear
as ulcer which heals with scar formation.
• A ring of hair around the defect, known as a ‘hair‐collar’
sign, is thought to be associated with an increased risk of
underlying defects
35. • Can occur in isolation or association with other types of disorders (limb
abnormalities, epidermal nevi, embryologic malformations, trisomy 13,
epidermolysis bullosa etc)
Treatment:
• Small defect- Surgical excision with mobilization of scalp and closer.
• Large defect- Hair transplantation
• Management of associated disorders accordingly, if present
36. NEONATAL ACNE
• Prepubertal acne can be divided into five subgroups:
neonatal, infantile, midchildhood, preadolescent and
adolescent
• Thought to be due to androgens (maternal & infant)
• May affect up to 20% of neonates, more common in boys
• Presents at or shortly after birth with erythematous
papulopustular lesions, and comedones
• Site - commonly on cheeks, chin and forehead
37. Treatment:
• Usually settles spontaneously and leaves little scarring.
• Gentle cleaners, oil‐free emollients
• If marked pustules - topical azole cream
38. NEONATAL CEPHALIC PUSTULOSIS
• Historically referred wrongly as neonatal acne because of
their clinical similarity
• Presents in the first 3 weeks of life
• Prevalence varies between 10 and 66% of newborns
• Postulated to develop in association with Malassezia
• Characterized by erythematous papulopustules,
surrounded by erythematous halo
• Site - cheeks, chin, eyelids, neck and upper chest
39. • Absence of comedones and presence of pustules surrounded by erythematous
halo help to differentiate this entity from neonatal acne
Investigation:
• Isolation of M. furfur in pustule content (50-60%)
Treatment:
• Self-limiting nature, heals in 1-3 months without scarring
• Persist/widespread – 2% ketoconazole cream for 15 days
40. INTERTRIGO
• Superficial inflammatory dermatosis involving body folds
that develops through friction
• Heat, moisture, friction and sweat retention induce
maceration and inflammation.
• Secondarily infected by bacterial (s.aureus, group A
streptococci) or fungal (candida) infection.
41. • Initially skin is red and slightly macerated, when separated show erythema of
contagious surface.
• Itching, burning and odour are common symptom.
• TREATMENT
– open wet compresses
– Dusting powder
– Antibiotics –cephalexin 40-50mg/kg/day or cloxacillin50-100mg/kg/day for 10
days or fungicidal nystatin cream 4-5 times /day for 3-4 days may be used.
42. DIAPER DERMATITIS (NAPKIN DERMATITIS)
• Acute inflammatory reaction of the skin associated with
the wearing of napkins.
• Irritant contact dermatitis – due to occlusive contact of
urine and faeces with skin.
• Rash is usually bounded by the margins of the nappy with
sparing of the inguinal fold.
• After prolonged contact, a papuloerosive eruption occurs
with formation of multiple small ulcers, called Jacquet’s
ulcers.
• Secondary infection by candida is common - the erythema
gets worse and there are satellite papular-pustulous lesions
43. Investigations: Skin swabs may be useful to confirm yeast or bacterial
infection.
Management:
• Remove the contactants, keep the diaper area dry.
• Frequent diaper change.
• Contamination by Urine or Feces should be rinsed gently with
warm water.
• Zinc cream or petroleum jelly is useful
• Mild topical steroid such as 1% hydrocortisone cream on inflamed
skin once or twice daily for 1–2 weeks
• Topical antifungal if secondary infection present e.g. ketoconazole,
nystatin at 100,000U/g or 1% miconazole nitrate
Jacquet’s ulcers
Candidosis
44. SEBORRHEIC DERMATITIS(CradleCap)
• Characterized by large flakes of yellowish scale on the
scalp, may become matted into large plaques of crust.
• Etiology - unknown
• Site - Scalp, face, postauricular, presternal and
intertriginous areas etc.
• Begins with a non-eczematous, erythematous, scaly
dermatitis of the scalp and spread downward
Treatment:
• Topical weak corticosteroid - 1% hydrocortisone
• Mild baby shampoo, ketoconazole 2% shampoo
45. NEONATAL LUPUS ERYTHEMATOSUS
• Occurs in about 1-2% of babies born to mothers with
clinical or subclinical autoimmune connective tissue
disease (primarily SLE and Sjögren's syndrome)
• Transplacental passage of maternal autoantibodies ssA-
Ro and ssB-La is thought to play role in pathogenesis
• Babies from subsequent pregnancies have a 20–25% risk
of skin or cardiac disease
• Present with either skin lesions (90%) or cardiac lesions
(1%)
• Well‐defined areas of macular or slightly elevated
erythema, frequently annular
46. • Site - face, particularly the forehead, temples and upper cheeks
• ‘Spectacle‐like’ distribution of lesions around the eyes is especially characteristic
• Congenital heart block (typically begins during the 2nd or 3rd trimester)
• Associated - hepatosplenomegaly, anemia, leukopenia, thrombocytopenia, and/or
lymphadenopathy
Investigation- skin biopsy, circulating autoantibodies in both the mother and the
child, ultrasound or electrocardiography
Treatment-
• Sunprotection
• Except for cardiac involvement, usually resolves in 6-12 months
• 50% with cardiac involvement will require a pacemaker
47. COLD PANNICULITIS
• Results from cold exposure to adipose tissue
• Fat of newborn are more highly saturated than that of older
children, with the effect that it solidifies at a higher
temperature
• Indurated, warm, red, subcutaneous plaques and nodules
appear within hours or days of appropriate cold exposure
• Skin biopsy shows a lymphohistiocytic infiltrate around blood
vessels at the junction of dermis and subcutaneous fat
• Induration resolves over a period of a week often leaving
some residual postinflammatory hyperpigmentation
• Self-limiting disorder and requires only symptomatic relief
48.
49. CONGENITAL SYPHILS
• Transplacental infection by Treponema pallidum
• Lesions usually appear between 3-8 weeks of age
• 15% of children born to untreated mothers are infected
• Lesions are reddish brown in colour, may be macular or
papular
• Sites of predilection are the ano‐genital area, the face
and the palms and soles
• If ulcerative in nature, they are highly contagious
• Syphilis rhinitis (snuffles) most important and frequent
sign
50. • Other features include bone abnormalities, anemia, thrombocytopenia, fever,
hepatosplenomegaly, lymphdenopathy, and poor feeding
Investigations-
• X‐ray of long bones
• CSF examination
• Dark‐field microscopy and/or PCR from exudates
Treatment-
• Aqueous crystalline penicillin 50,000 units/kg/dose IV every 12 h during the first 7
days of life and every 8 h thereafter for a total of 10 days
51. NEONATAL HERPES SIMPLEX
• Incidence about 7/100 000 live births
• Mostly from transmission of HSV type 1 (20%) and HSV type 2
(80%) through the contact with an infected genital tract
during delivery. Intrauterine 5%
• Common in premature and low birth weight
• Of infected babies, 70% develop the skin/mucosal lesion, 90%
systemic
• Lesions appear between day 2 and 20
• Clustered red papules and vesicles, then become pustular,
crusted and erosion over the following 2-3 days
52. HSV infection in newborns usually develops in one of three patterns:
• Localized to the skin, eyes, and mouth (40%)
• Central nervous system (CNS) disease (35%)
• Disseminated disease involving multiple organs (25%)
Investigations: Serology, Viral culture, PCR
Treatment: Skin & mouth disease - Acyclovir 20mg/kg-8hrly IV for 14 days
Encephalitis & systemic disease -21 days.
55. Cutaneous lesions:
• Lesions are polymorphous- papules, pustules and vesicles
• The infant's rash usually occurs toward the end of the 1st week to the early part of
the 2nd week of life
• Vesicles usually develop over 1st 3-10 days of life
• Localized scarring, most common cutaneous feature of FVS
• Localized absence of skin, usually on a limb
Investigations: PCR, Serology (IgM and IgG)
56. Treatment-
• Newborns whose mothers demonstrate varicella 5 days before to 2 days after
delivery should receive 1 vial of VZIG as soon as possible.
• All premature infants born <28 wk gestation to a mother with active varicella at
delivery (even if the maternal rash has been present for >1 wk) should receive
VZIG
• The infant should be treated with acyclovir (10 mg/kg every 8 hr IV) when lesions
develop
57. CONGENITAL RUBELLA
• Preconception minimal risk
• 0-12 weeks 100% risk of fetus being congenitally
infected resulting in major
congenital abnormalities.
Spontaneous abortion in 20% of cases.
• 0-16 weeks congenital rubella syndrome (85%)
• After 16 weeks normal development, slight risk
of deafness and retinopathy
Congenital rubella typically results from maternal infection
59. • Discrete rounded, red or purple infiltrated macules, 3-8 mm in diameter
• Site – face, scalp, back of neck and trunk
• Blueberry muffin lesions
• Other skin manifestation – cutis mamorata, seborhoea and hyperpigmentation of
the forehead, cheeks, umbilical area and discrete deep dimples over bony
prominences, particularly the patellae
• Investigations: PCR - Rubella virus isolation
Rising titres of antibody (mainly IgG) - EIA
• Treatment: Supportive care
60. HAND, FOOT & MOUTH DISEASE
• Caused by Coxsackie A-16 virus (Occasionally A5-A10)
• Symptoms can develop within 2 weeks after birth.
• Abrupt onset scattered papules that progress to oval
or linear vesicle. Preceded by Fever
• Distribution- Palms, fingertips, interdigital webs soles
& buccal mucosa.
• Clears spontaneously in about 7 days.
• Treatment- Rest, fluids, Acetaminophen
61. BULLOUS IMPETIGO
• A contagious infection of the superficial epidermis
• Most often caused by phage group II strains of
staphylococcus aureus
• Due to staphylococcal exfoliative toxins (exfoliatin A–D),
which target desmoglein 1
• Lesions do not generally appear until the second week of life
• Superficial flaccid blister without erythema, initially clear,
yellow fluid that turns cloudy and dark yellow
• Rupture easily, dries and form a honey – colored crust
• Associated systemic symptoms - fever, malaise, generalized
weakness, and diarrhea
62. Investigations:
• Swab culture – bacteria
• Blood count may reveal neutrophil leucocytosis
• Biopsy - Acantholytic cells, Cleavage plane is subcorneal or upper granular layer,
Minimal inflammatory infiltrate in upper dermis
Treatment:
• Normal saline or potassium permanganate soaks to remove the crust.
• Topical antiseptic (povidone iodine, hydrogen peroxide cream, chlorhexidine)
or topical antibiotic (fusidic acid, mupirocin).
• Systemic antibiotics in extensive lesions
63. STAPHYLOCOCCAL SCALDED SKIN SYNDROME (SSSS)
(Ritter’s disease)
• Syndrome of acute exfoliation of the skin caused by
epidermolytic toxin A and/or B (exotoxin) produced by
staphylococcus aureus
• The toxins act at the zona granulosa of the epidermis,
causing cleavage of desmoglein 1 complex
• Greater incidence of this condition in neonates due to less
efficient metabolism and excretion of the toxin.
• These toxins reach the skin via the circulation from a
distant focus of infection, usually in the umbilicus, breast,
conjunctiva or site of circumcision or herniorrhaphy
64. • Start as a macular, orange‐red, scarlatiniform eruption
• Lesion generally becomes more extensive, and over the
next 24–48 h turns to a more confluent, deep erythema
with oedema
• Surface then becomes wrinkled before starting to
separate, leaving raw, red erosions.
• First appear on face, axillae and groins then spread all over
body.
• Extreme tenderness of the skin is an early feature
• Child is pyrexial and distressed
65. Investigations:
• Nikolsky’s signs - positive.
• Tzanck smear
• Skin biopsy, which shows intraepidermal cleavage at the granular layer
• Bacterial culture from skin, blood. The intact bullae are sterile
Treatment:
• Intravenous penicillinase-resistant penicillin, such as nafcillin or oxacillin
• Other antibiotics include cephalosporin and clindamycin
• Vancomycin should be considered in areas with a high prevalence of Community
Aquired-MRSA
• Fluid and electrolyte balance.
66. CANDIDIASIS
• Early weeks after birth, in the form of oral candidiasis.
• Acquired during delivery from the mother’s genital tract
(frequency of vaginal candidiasis 20% - 25%)
• Rash is usually focused in the perianal area, and is a deep
‘beefy’ red colour, with a moist appearance, often with
pustules at the periphery
• Pseudomembranous form is the most common and
appears as white plaques on the buccal mucosa, palate,
tongue, or the oropharynx
• Painful inflammation of tongue, soft and hard palate,
buccal & gingival mucosa can extend to esophagus/
pharynx.
67. • Congenital Candidiasis: A rare condition seen at birth, due to ascending
infection from the genital tract. Candida is able to find its way into the amniotic
fluid without prior rupture of membranes
• Two forms have been described:
1) Congenital cutaneous candidiasis: presents within 12 hours of birth. A macular
erythema that may evolve into a papular, vesicular or pustular phase over a
period of 1–3 days, finally results in extensive desquamation. Palmar and
plantar pustules are regarded as hallmark
2) Congenital systemic candidiasis: An invasive infection with a high mortality
rate, especially in VLBW infants. At least 50% do not have a cutaneous rash.
Presenting signs are pneumonia (most common), meningitis, candiduria
and/or candidemia.
68. Investigations:
• Skin/mucosa swab and scraping - candida
• Endoscopy in extensive oral candidiasis, to see the extent of the lesions
Treatment:
• Clotrimazole 1% used as mouth paint 4 times a day
• Nystatin, amphotericin B or miconazole gel applied several time a day.
• Systemic antifungal therapy for systemic infection (Amphotericin B drug of
choice - amphotericin B deoxycholate 0.5–1.0 mg/kg once daily)
• Maintain proper oral hygiene
69. SCABIES
• Scabies may present as early as three to four weeks of age
but is never present at birth
• Neonates do not itch, but present with extensive rashes,
irritability, poor feeding, and failure to thrive.
• Vesicles are common, leading to early pustulation,
crusting, and scaling.
• Eruption is generalized, including involvement of the head,
neck, face, palms, and soles, with an early tendency for
pustule formation
70. Investigations:
• Scraping of skin from an unscratched burrow- microscopy revealed female mite
&/or her eggs.
Treatment:
• Permethrin 5 % cream at bedtime to all skin surfaces in neonate and from the
neck down in older family members
• Disinfection of recently used clothing and linens
71. NEONATAL PURPURA FULMINANS
• Potentially lethal disorder characterized by progressive
haemorrhagic necrosis of the skin due to abnormal coagulation
and microvascular occlusion
• Usually due homozygous deficiency of protein C or, less
frequently, protein S
• Rarely, can occur due to infection, such as group B
Streptococcus , methicillin‐resistant Staphylococcus aureus
• Lesions most characteristically appear within first 12 h of life
• Symmetrical and well‐defined ‘lakes’ of confluent ecchymosis
• Patient is frequently febrile
72. • Onset is sudden, and the lesions enlarge rapidly, with coalescence and the
development of haemorrhagic bullae and central necrosis.
• There is surrounding erythema and the lesions are tender
• Site - Most often on the limbs, particularly at sites of pressure
Investigations: Thrombocytopenia, Polonged aPTT and PT
• Bacterial culture
• Histopath – cutaneous necrosis without evidence of inflammation, and occlusion
of blood vessels with platelet-fibrin thrombi
Treatment: Initially, fresh frozen plasma 10–15 mL/kg/12 h
• If protein C deficiency is confirmed, onward therapy with protein C concentrate
should continue until the skin lesions have healed
• Longer term treatment is with oral anticoagulants
• Any concomitant infection needs to be treated as well
73. ICHTHYOSIS
• Ichthyosis - excessive scaling of skin.
Major hereditary types
• Vulgaris, Recessive X-linked, Autosomal recessive,
Keratinopathic
Autosomal recessive congenital ichthyosis
• Includes all non‐syndromic autosomal recessive congenital
forms of ichthyosis without a tendency toward blistering
• Includes harlequin ichthyosis, bathing suit ichthyosis, lamellar
ichthyosis, self‐improving congenital ichthyosis, Colloidon
baby etc
74. Harlequin ichthyosis
• Most devastating type of ARCI. Often lethal in around 44% case
• Mutations in the ABCA12 gene
• Neonates are born with armour‐like skin (truncal plates with
fissuring)
• Impaired movement and the ability to drink and breath
• More prone to infection of the skin, as well as other organs such
as the lungs (major cause of death)
• Biopsy - enormous thickening of stratum corneum. Parakeratosis
and hypergranulosis and reduced non‐polar lipids
• Electron microscopy – numerous abnormal lamellar bodies in
stratum granulosum
75. Collodion baby
• Most autosomal recessive congenital ichthyosis (ARCI)
present at birth as collodion babies
• Baby encased in shiny parchement-like membrane which may
impair respiration and sucking .
• Usually peels off within the first 4 weeks of life.
• In 80% of cases, collodion baby is followed by the onset of an
ARCI subtype
• Around 10–20% develop into self‐improving congenital
ichthyosis
76. TREATMENT:
• High humidity incubator (60-80%) with close monitoring of body
temperature.
• Bland ointments two to four times a day
• In severe disease, the oral retinoids such as acitretin, isotretinoin at low
dosage, up to 0.5 mg/kg body weight
77. NEUROFIBROMATOSIS 1 (von Recklinghausen's disease)
• Autosomal dominant disease
• Due to mutation of NF1 gene in chromosome 17
• NF1 gene – neurofibronin (tumour suppressor)
• Most common type of Neurofibromatosis (90%), with a
prevalence of about 1 in 3,000 births
• Present at birth or shortly after
Characterised by the presence of:
• 6 or more café-au-lait spots (defined oval-shaped light
brown patches greater than 0.5cm in diameter)
• Multiple neurofibromas
• Freckling (under the armpits and areas of skin folds)
• Lisch nodules (tiny tumours on the iris of the eye)
78. INCONTINENTIA PIGMENTI
• X-linked dominant multisystem disease that is usually lethal in
males
The skin lesions develop in four stages:
• Erythematous papules and vesicles appear in crops in linear
streaks along the lines of Blaschko, usually at birth or within the
first few weeks of life, each crop lasting one to two weeks
• The verrucous stage follows, consisting of hyperkeratotic warty
papules or plaques in linear or swirling patterns
• The third pigmented stage presents as streaks of
hyperpigmentation in a swirled pattern
• The hyperpigmented streaks then may evolve into a final stage
of hypopigmentation and atrophic patches or streaks.
79. Associated Systemic abnormalities occur in nearly 80 percent of patients
• Teeth 80% - delay in eruption, unusually shaped, typically pegged or cone-shaped
• Nails 40% - nails may be ridged, pitted, thickened or completely disfigured
• Hair 50% - eyebrows and eyelashes, may be coarse, wiry and lack lustre
• Eyes 20-35% - Abnormal blood vessel growth resulting in scarring, blindness
• Central nervous system 30% - seizures
Treatment
• Prevent secondary bacterial infection of skin lesions
• Topical tacrolimus and topical corticosteroids has been reported to hasten the
resolution of the inflammatory stage.
Depressed contact allergen reactivity. Smaller corneocytes
Border between papillary and reticular dermis absent. Adult epidermis – 50um
3 weeks of gestation, presumptive epidermis consist of single layer of cuboidal cells, and by 11th week, the epidermis has three distinctive layers: basal, intermediate, and superficial (periderm)
Periderm cells are replaced continuously until 21 weeks when it is completely shed and replaced by the stratum corneum
Development of vernix progresses in a cephalocaudal manner and is the result of an orderly progression of epithelial maturation
Vernix consists of water (81%), lipid (9%), and proteins (10%)
Acts as a hydrophobic barrier against amniotic fluid maceration and loss of fluids and electrolytes or TEWL (Trans Epidermal Water Loss)
identified proteins with antimicrobial properties are: Defensins, Cathelicidins, Psoriasin, Ribonuclease-7, Annexin 1
Separate its natural way, which usually occurs by about the 5th day, except in folds of the body where it takes 5 more days to separate
Cutis marmorata telangiectatica congenita is clinically similar, but the lesions are more intense, may be segmental, are persistent
Cause is unknown, but is likely to be a genetic mutation. A possible variation in the ARL6IP6 gene has been suggested.
Reticulate - divide or mark (something) in such a way as to resemble a net or network.
confused with cutis marmorata, a normal physiologic skin mottling in cool environments (Cutis marmorata that persists beyond the neonatal period may be a marker for trisomy 18, Down syndrome)
Several congenital abnormalities associated – Craniofacial (Cleft palate, small jaw, Macrocephaly, Optic nerve atrophy), Neurological (Mental retardation, Seizures, Delayed motor development), Vascular (atrial septal defects, abnormal blood vessel structures), Skeletal (Hypertrophy, webbed/joined fingers or toes), Hypothyroidism
Can be both primary and secondary to psychiatric, neurologic, autoimmune, infective, metabolic and other causes
Due to chronic vasospasm of small cutaneous arteries, and arterioles along with compensatory dilatation in the capillary and post capillary venules causes cyanosis and sweating. Due to diminished oxyhemoglobin. Occurs particularly in full term newborn
May be regarded as normal during the first 48 hh or so.
30-50% of full‐term infants of all racial types will manifest some degree of toxic erythema. Frequently an associated blood eosinophilia.
Etiology-associated with normal bacterial flora in pilocebaceous orifice.
D/D Miliaria rubra, erythema in m. rubra is small i.e. ~1-2mm.
Until about the fourth day, although can be as late as two weeks of age
Smear of the central vesicle or pustule will reveal numerous eosinophils on wright staining.
More common in black neonates, and is probably the reason for the so-called lentigines neonatorum noted in 15% of black newborns
Suggested that it is merely an early onset variant of toxic erythema of the newborn
Lesions may be present over palms & soles, disappear by 5 days of age
Suggested that eosinophilic pustular folliculitis and infantile acropustulosis may be different manifestations of the same disease
D/D Lesions of scabies can be vary similar to the lesions of ACROPUSTULOSIS OF INFANCY
The attacks occur with gradually diminishing numbers of lesions, and decreasing frequency, until cease altogether, usually within 2 years of the onset
Often being more frequent and more numerous in the summer months.
Treatment oral hydroxyzine 2mg/kg/day to decrease pruritus
Dapsone may relieve symptoms within 24 h and signs within 72 h in some cases.
Milial cyst has a stratified squamous epithelial lining with a granular layer. The white milium body is composed of lamellated keratin.
Inside the mouth on the mid palatine raphe (Epstein pearls) or hard palate (Bohn nodules)
Can be excised and contents expressed
May also be visible on the upper trunk, especially the areolae, genitalia and limbs, where the density of sebaceous glands is highest.
Resolves in 4-6 months
Believed the first event in the production of miliaria is an increase in certain normal Staphylococcus epidermidis bacteria which live on the skin. These produce a sticky substance which blocks the sweat ducts. Patients with miliaria have 3 times as many bacteria per unit area of skin as healthy control
Miliaria crystallina rare during the first 4 days, congenital cases have been reported
Miliaria can be reproduced regularly by occlusion of the skin under polythene for 3-4 days, following which the sweat ducts remain blocked for about 3 weeks
Miliaria profunda results from sweat leaking into the dermis (middle layer of skin) causing deep and intensely uncomfortable, prickling, red lumps
Miliaria profunda commonly lasts 5-6 weeks because the plugs in the sweat duct openings can only be cast off by the outward growth of the sweat duct cells, which takes several weeks
Resolve spontaneously in Few weeks (for both)
Mild topical steroids often give reasonable relief of symptoms while natural resolution of the condition is awaited.
Often with fine linear telangiectasia.
Forehead, glabela, eyelids
Stork bites tend to be more persistent and may remain unchanged into adult life in 50% of cases.
When port wine stain involves ophthalmic branch of the fifth cranial (trigeminal) nerve, it can be associated by a constellation termed Sturge-Weber syndrome
Sturge-Weber syndrome involves seizures, mental retardation, hemiplegia, and glaucoma
caused by abnormal bleeding of blood vessels in the affected area
Blood vessels in uppermost layers of the skin are dilated. Skin Hypoxia is now considered the likely reason for the proliferation of blood vessels
Deep hemangiomas are bluish-purple and make the skin swell and bulge
More in Females, White skin, Premature, Advanced maternal age, Family history
Interferon alfa-2a , 3 million unit/m2 BSA S/C injection for 12 months.
PULSED DYE LASER-best for ulcerated lesions, 90% healing after 2 laser treatment.
Heparin and FFP for bleeding.
Prednisolone 2mg/kg/day
90% of children of Mongoloid race (e.g. East Asians, Polynesians, Indonesians, Micronesians)
This migration is regulated by exogenous peptide growth factors that work by the activation of tyrosine kinase receptors. It is postulated that accumulated metabolites such as GM1 and heparan sulfate bind to this tyrosine kinase receptors
No fibrosis or dermal melanophages are present, distinguishing a Mongolian spot (Lumbosacral dermal melanocytosis) from a blue naevus.
Distinguished from acquired nevi through histological analysis, as nevomelanocytes of congenital melanocytic nevi are unique and extend below the surface of the skin, can spread to the deep dermis, and can also exist in the subcutaneous fat, fascia, or muscle
Café-au-lait macule
Features suggestive of dysplasia or malignant transformation to melanoma, including accelerated growth, ulceration, changes in color, shape, or nodularity
Naevi over the cranium or spine have association with Neurocutaneous melanosis which rarely may produce raised intracranial pressure, hydrocephalus or space-occupying spinal lesions.. An MRI scan should be considered in naevi over the cranium or spine to exclude significant neurocutaneous melanosis
Elongated dendritic melanocytes are scattered among collagen bundles mainly of the superficial dermis, may extend deeper in the dermis or subcutaneous
GNAQ mutations have been reported in 6% of naevi of Ota
Bulbar and palpebral conjunctiva and the sclera, as well as the temple, forehead, scalp, nose, ears, palate and malar area. 1064nm Q switched Nd:YAG
ITO - area innervated by the posterior supraclavicular and lateral cutaneous brachial nerve
Histologically the lesions show foci of dermal erythropoiesis. The reticular dermis contains aggregates of nucleated and nonnucleated erythrocyte precursors, but generally no cells of myeloid or megakaryocytic type.
Possible that this process represents persistence and exaggeration of the dermal erythropoiesis that is a normal occurrence in early fetal development.
Possible causative factors may be great compensatory demand, deficient replacement, or loss or dysfunction of corpuscular blood elements
At birth the lesions can either be healed with scarring, often with a thin parchment‐like appearance, or they can be open, with varying levels of ulceration
Most common congenital cicatricial alopecia
Neonatal acne is an inflammatory response to the saprophytic yeast Malassezia and is not true acne
Most well recognized is neonatal cephalic pustulosis an acneform eruption thought to be caused by Malassezia
Neonatal cephalic pustulosis historically referred to as neonatal acne
Pathogenesis not clearly understood but thought to relate to hyperactivity of the sebaceous glands stimulated by neonatal androgens etc
All cases of acne presenting in midchildhood (age one to seven years) should be investigated for hyperandrogenism. Resolve spontaneously within 3 months.
D/D Neonatal cephalic pustulosis - more inflammatory papules, significant pustules and lack of comedonal lesions, develops in association with Malassezia sympodialis and Malassezia globosa.
Malassezia furfur, Malassezia sympodialis and Malassezia globosa
Malassezia is uncertain, as the organism is part of the normal flora of neonatal skin
Defined as an erythematous eruption in a skin fold, caused by warmth, moisture and chafing
d/d herpes simpiex infection, kerion- dermatophyte infection.
Nappy rash is the most common dermatological condition in newborns who are cared for in the neonatal intensive care unit
Increase in temperature and local humidity cause skin maceration making it more susceptible to irritation caused by prolonged contact with urine and feces
use of irritant powders, oils, soaps and ointments aggravate
Secondary infection caused by Candida albicans or bacteria such as Bacillos faecallis, Proteus, Pseudomonas, Staphylococcus and Streptococcus is frequent.
Impetigo (Staphylococcus aureus and/or Streptococcus pyogenes): irregular blisters and pustules.
4 clinical forms , most common is chafing dermatitis-over convaxicities, 7-12 months age.. 2nd limited to perianal area, observed in who have/had diarrhea. 3rd discrete shallow ulceration throught the diaper area. 4th beefy red confluent erythema-occurs after secondary c. albicans infection
Most common between the ages of 4 and 16 weeks. Affect up to 41.7% of infants
Can also get seborrheic dermatitis in their diaper area
Cause - pityrosporum oval, hereditary (genetic) immuno- dysfunction, atmospheric humidity etc
It is not caused by poor personal hygiene. It is not an allergy. It does not harm the body
Pemphigus vulgaris is unusual in pregnancy because it is largely a disease of an older age and individuals receiving systemic treatment rarely get pregnant
Babies from subsequent pregnancies have a 20–25% risk of skin or cardiac disease
Neonatal lupus syndrome: 5% typical geographic & annular scaly erythematous lesions on the face, scalp and sun exposed area(disappears within 6months), 2-3% heart block(20% dying in early childhood and most require a pacemaker
May be triggered or exacerbated by sun exposure. Risk of connective tissue disease later in life is increased.
Anti‐Ro antibodies can bind to cardiac conduction cells during mid to late fetal development, leading to altered membrane repolarization and selective damage to the atrioventricular node.
Associated - hepatosplenomegaly, anemia, leukopenia, thrombocytopenia, and/or lymphadenopathy
Applying ice for 50 s causes panniculitis in all newborn infants, in only 40% of 6‐month‐old infants and almost never in 9‐month‐old infants
Extremely cold air, ice bags (as a therapy for supraventricular tachycardia), frozen lollies (popsicles)
Biopsy shows mostly lobular panniculitis - infiltrate of lymphocytes and histiocytes in the fat lobules
After few days, lipocyte rupture leads to the formation of cystic cavities. Nodules are firm or hard and cold and painful
May also occur during delivery in the presence of maternal genital lesions
Divided into: 1 Early disease presenting within the first 2 years of life. 2 Late disease presenting from age 3 onwards. 3 Stigmata of congenital syphilis, the scars and deformities associated with the infection that may be seen in adults.
Snuffles - nasal discharge containing T. pallidum, nasal cartilage and bone destruction, saddle‐nose deformity
Characterized by papulosquamous eruption beginning in the palms and soles and spreading over extremities, face and trunk
Newborns with disease can also be born premature and have poor growth
Usually caused by infection after 1st trimester (placenta completely formed)
No evidence of transmission via human milk, without breast lesions
Postnatal inoculation also may occur. Develop in about 10% of infants of parents with active HSV2 infection.
CNS disease include seizures (both focal and generalized), lethargy, irritability, tremors, poor feeding
Disseminated - severe coagulopathy, liver dysfunction, and pulmonary involvement of the disease
Prevention: caesarean section to mothers with florid genital HSV lesions
5 days before to 2 days after (rooks 4-4)
7 and 20th week of pregnancy - spontaneous abortion may follow
Maternal immunoglobulin (IgG) is able to cross the placenta if delivery occurs after 30 wk of gestation
full blown FVS’ the mortality is about 25% in the fi rst 3 months of life
RNA enveloped virus, member of the togavirus family
Spread by respiratory droplets. Contageous 2 days before to 7 days after rash.
The pink lesion of rubella differs from the more vivid-red lesion of measles
Rubella virus can be isolated from throat swabs, blood, urine and spinal fluid by polymerase chain reaction (PCR) because infants with CRS may shed virus from the throat and urine for a prolonged period (a year or longer)
Possible immune globulin for the mother
D/D papular stage-rubella & morbiliform eruption, Vesicular – varicella but lesions acral distribution , few in no, non pruritic.
Simillar illness by enterovirus 71. Coxsackie A-16 (Nonenveloped, linear, positive-sense single-stranded RNA viruses, Picornaviridae and the genus Enterovirus)
Passed from unwashed hands and surfaces contaminated by feces. through droplets when someone sneezes or coughs.
Non-bullous impetigo (impetigo contagiosa) can also be caused by group A beta-haemolytic streptococcus (Streptococcus pyogenes)
Cleave off the superficial epidermis through the granular layer. No trauma is required, as the bacteria can infect intact skin.
Bullous impetigo is considered to be less contagious than the nonbullous form. Bullous impetigo most commonly affects neonates
Localized form of staphylococcal scalded skin syndrome
Gram positive cocci are observed.
Cephalexin 40-50mg/kg/day for 10 days or cloxacillin 50-100mg/kg/day for 10 days
Strains of S. aureus, most commonly of phage group II, particularly strains 71 and 55
Not present at birth, although it may appear within the first few hours thereafter. Also known as Pemphigus neonatorum or Ritter's disease
scalded appearance of the skin differentiates the disease from bullous impetigo, and the rapid onset with marked cutaneous tenderness distinguishes it from most of the other causes of erythroderma in infancy. The rarity of clinically apparent bullae and the confluent nature of the rash help differentiate it from those bullous disorders.
Treatment-Dicloxacillin 20-50 mg/kg/day or cephalexin 40-50 mg/kg/day
Clidamycin to inhibit bacterial protein(toxin) synthesis inhibition.
Systemic corticosteroids are contraindicated as they aggravate the disease
Relatively common disorder caused by yeast like fungi of genus candida - most common by candida albicans
Fungal infection of skin in the full-term new born is uncommon except for candidal vesicopustular diaper rash and thrush.
Neonatal tinea rarely encountered, due to high sebum secretion rates in neonates. Sebum - antibacterial and antifungal properties
Paronychia may occur and isolated involvement of the nail plates has been described. Oral involvement is usually absent
Systemic - lungs may be affected, hepatosplenomegaly, abnormal liver function, Candidal meningitis
Amphotericin B, the gold standard for neonatal antifungal therapy, exerts its mechanism of action and toxicity through binding to ergosterol in the cell membrane of fungal and host cells, resulting in formation of membrane pores, cell depolarization followed by cell death. Nephrotoxicity
Oral nystatin suspension (1 ml 4 times daily). Amphotericin B (5 ml or 1 10-mg lozenge 4 times daily). Miconazole gel (2.5 ml after food 4 times daily).
Fluconazole (6 mg/kg/d for 6 to 48 days)
Caused by infestation with the Sarcoptes scabiei mite
Skin eruption is because of a hypersensitivity reaction to the proteins of the female parasite which burrows into the upper layers of the epidermis
Reaction typically occurs within 4-6 weeks of infestation. Thus, scabies in neonatal period is not common.
Sides & webs of the fingers, lateral & posterior aspects of feet,axillary folds,genitalia
1% gamma benzene hexachloride (not recommended - neurotoxicity). Ivermectin 200microgram/kg single dose.
ATOPIC DEMATITIS: family h/o allergy,distribution mainly over face,trunk & extensors of extremities,presence of dry skin,severe itching,tendency to recur
DERMATITIS HERPETIFORMIS: severe pruritic vesicles,usual onset in adolescence,grouped skin lesions involving elbow knee upper trunk & buttocks.associated with gluten sensitivity.Immunofluorescent of non involved adjacent to a blister biopsy being diagnostic.
Older child - purpura fulminans is a highly characteristic feature of meningococcal septicaemia (gram -ve)
Risk of thrombosis in the central nervous system and in the retinal vessels, danger of internal haemorrhage, shock and death.
platelet count can dip below 50 × 109/L in 50%.
activated partial thromboplastin time [aPTT] and prothrombin time [PT]) are typically prolonged.
Protein C initially and then warfarin is begun followed by tapering of concentrate. Warfarin continued for life
Peculiar nonsense and/or frameshift mutations in the ABCA12 gene. ABCA12 transfer lipids such as glucosylceramides, essential for epidermal barrier formation, into lamellar bodies. important role in desquamation by degrading corneodesmosomes, thus leading to retention hyperkeratosis
Electron microscopy – Accumulation of extruded irregular lamellar bodies as vesicular structures between the epidermal cornified cells
Two handfuls of baking soda to a bath tub will raise the pH from 5.5 to 7.9. Mild alkalinization of the skin raises the pH to an optimum for serine protease activity required in normal desquamation for the dissolution of corneodesmosomes
NF1 gene provides instructions for making a protein called neurofibromin (tumor suppressor). 3rd type – Schwannomatosis
Café-au-lait macules >1.5 cm in diameter in post purbertal individuals.
4 types of neurofibromas in NF1: Cutaneous, Subcutaneous, Nodular plexiform, Diffuse plexiform
No cure for NF. The main goal of treatment is to monitor its development and intervene when necessary.
Also referred to as ‘Bloch-Sulzberger syndrome’, ‘Bloch-Siemens syndrome’, ‘melanoblastosis cutis linearis’, and ‘pigmented dermatosis-Siemens-Bloch type’
Gene localised on chromosome Xq28. This gene normally codes for the nuclear factor-KB essential modulator protein (the NEMO or NF-kappaB gene)
Mutations in the NEMO gene prevent it from working, and cells that have the mutation are more prone to programmed cell death.
Rarely incontinentia pigmenti is reported in males with Klinefelter syndrome (XXY syndrome)
Cell death also affects the endothelial cells (cells lining blood vessel walls) in the brain. This causes abnormal vessels to develop, and leakage of proteins from the blood into the brain. This may cause seizures.
