2. Physiologic roles of skin
● Barrier to water loss
● Thermoregulation
● Infection control
● Immunosurveillance
● Acid mantle formation
● Antioxidant function
● UV light protection
● Barrier to chemicals
● Tactile discrimination
● Attraction to caregiver
layer
Spinous
layer
layer
Basement
Papillary
dermis
Reticular
dermis
envelope
Corni
fi
ed envelope
Lamellar body
CE precursor protein
Keratin bundle
Keratin intermediate
fi
lament
Anchoring
fi
lament
Anchoring
fi
bril
Elastic
fi
ber
Collagen
fi
ber
and glycoproteins
Physiologic roles of skin •
• • Barrier to water loss
• Infection control
• Acid mantle formation
• Antioxidant function
• UV light protection
• Barrier to chemicals
• Tactile discrimination
• Attraction to caregiver
Stratum
corneum
Granular
Basal
membranel
Corneocyte lipid
Lipid lamellae
Desmosome
Hemidesmosome
Fibroblast
GAGs, proteoglycans,
• Thermoregulation
• Immunosurveillance
3. Ver ce
● During last trimester
● Waterproofing skin surface
allowing cornification to occur
● Contains lipid & water-laden
corneocytes
● anti -infective, antioxidant,
moisturizing, cleansing
capabilities
• During last trimester
• Waterproo
fi
ng skin surface •
allowing corni
fi
cation to occur
• Contains lipid & water-laden
• anti-infective, antioxidant,
moisturizing, cleansing
capabilities
Vernix caseosa
corneocytes
4. TABLE
91.1
Milestones in Fetal Skin Embryogenesis
Milestone
Gestational
Week
Expression of epidermal keratins
Development of specialized cells, including melanocytes,
Formation of dermoepidermal junction 8-10
Beginning of nail development
Beginning of hair development
Palmoplantar sweat gland formation
Formation of fat in subcutis
10
12
10-12
15
Sweat gland formation in rest of body 24-26
Adapted from Holbrook KA, Odland GF. The
fi
ne structure of developing human epidermis:
light, scanning, and transmission electron microscopy of the periderm. J Invest Dermatol.
1975;65:16-38.
Langerhans
6
8
5. Prip of b si c
Principles of newborn skin care
Delivery Room
• Provide immediate drying and tactile stimulation.
• Remove blood and meconium.
• Leave vernix intact and spread to allow absorption.
Bathing
• Limit frequency.
• Use neutral pH cleansers.
• Use only water for infants weighing less than 1000 g.
• Avoid antibacterial soaps.
Emollients
• Avoid petrolatum-based ointments in infants with very low
birth weight during the
fi
rst week of life.
• Use emollients as needed for dryness in older infants.
Disinfectants
Use chlorhexidine, and remove excess after procedure.
Use of isopropyl alcohol and alcohol-based disinfectants is
discouraged in infants with very low birth weight until the
stratum corneum has formed.
Transepidermal Water Loss
• For infants younger than 30 weeks' gestation, select high
incubator humidity (>60%) and transparent, semipermeable
dressings to reduce evaporative water and heat loss.
• Use incubators and supplemental conductive heat to avoid
drying effects of radiant warmers.
• Measure humidity routinely.
Cord Care
: Avoid the routine use of isopropy alcohol.
Adhesives
: Use hydroge electresses.
: Avoids vets a dinging a genoval.
6. TABLE
94.1 Primary Cutaneous Lesions*
Patch
Description
A circumscribed,
fl
at lesion with color change, up to 1 cm
in size; by de
fi
nition, they are not palpable
Same as macule but >1 cm in size
Clinical Examples
Plaque
A circumscribed, elevated, solid lesion, up to 1 cm in size; Verrucae, milia, juvenile xanthogranuloma
elevation may be accentuated with oblique lighting
A circumscribed, elevated, plateau-like, solid lesion,
>1 cm in size
A circumscribed, elevated, solid lesion with depth, up to
2 cm in size
Same as a nodule but >2 cm in size
Vesicle A circumscribed, elevated,
fl
uid-
fi
lled lesion up to 1 cm in Herpes simplex, varicella, miliaria crystalline
size
Bulla Same as a vesicle but >1 cm in size Sucking blisters, epidermolysis bullosa, bullous impetigo
Urticaria, bite reactions, drug eruptions
A circumscribed, elevated, edematous, often evanescent
lesion, caused by accumulation of
fl
uid within the
dermis
Pustule A circumscribed, elevated lesion
fi
lled within purulent
fl
uid,
<1 cm in size
Abscess Same as a pustule but >1 cm in size
*Lesions arise de novo and are therefore most characteristic of the disease process.
fi
Type
Macule Ash leaf macules, café-au-lait spots, capillary ectasias
Papule
Nevus depigmentosus, nevus simplex, mongolian spots
Mastocytoma, nevus sebaceous
Nodule Dermoid cysts, neuroblastoma
Tumor Hemangioma, lipoma, rhabdomyosarcoma
Wheal
Neonatal pustular melanosis, erythema toxicum
neonatorum, infantile acropustulosis
Pyodermas
7. TABLE
94.2 Secondary Cutaneous Lesions*
Crust
Scale
Erosion
Fissure
Atrophy
Scar
Description
Results from dried exudates overlying an impaired epidermis.
Can be composed of serum, blood, or pus.
Results from increased shedding or accumulation of stratum
corneum as a result of abnormal keratinization and exfoliation.
Can be subdivided further into pityriasiform (branny, delicate),
Intraepithelial loss of epidermis. Heals without scarring.
Full thickness loss of the epidermis with damage into the
dermis. Will heal with scarring.
Linear, often painful break within the skin surface, as a result of
excessive xerosis.
Thickening of the epidermis with exaggeration of normal skin
markings caused by chronic scratching or rubbing.
Localized diminution of skin. Epidermal atrophy results in a
translucent epidermis with increased wrinkling, whereas
dermal atrophy results in depression of the skin with retained
skin markings. Use of topical steroids can result in epidermal
atrophy, whereas intralesional steroids may result in dermal
atrophy.
Permanent
fi
brotic skin changes that develop as a consequence
of tissue injury. In utero scarring can occur as a result of
certain infections or amniocentesis or postnatally from a
variety of external factors.
Clinical Examples
Herpes simplex, certain types of
congenita
Inherited keratodermas, hand and foot
Sucking callus, atopic dermatitis
scarring, and focal dermal hypoplasia
congenita
*Lesions arise as characteristic modi
fi
cations of primary lesions through environmental interaction (e.g., drying) or subject interaction (e.g., scratching).
fi
Type
Ulcer
Licheni
fi
cation
psoriasiform (thick, white, and adherent), and ichthyosiform
(
fi
sh scalelike).
Epidermolysis bullosa, impetigo
Ichthyoses, postmaturity desquamation,
seborrheic dermatitis
epidermolysis bullosa
Ulcerated hemangiomas, aplasia cutis
eczema
Aplasia cutis congenita, intrauterine
Congenital varicella, aplasia cutis
9. Erhe Tic Notu
● DOL 1-3
● Irregular shaped erythematous macules
with overlying vesicles or papules
● Trunk, face, extremities sparing palms &
soles
● Unclear cause
● Immunologic response to microbial
colonization of hair follicles
● Spontaneous resolved after 1-2 weeks
• Irregular shaped erythematous macules
with overlying vesicles or papules
• Trunk, face, extremities sparing palms &
soles
• Unclear cause
• Immunologic response to microbial .
colonization of hair follicles
• Spontaneous resolved after 1-2 weeks
Erythema Toxicum Neonatorum
• DOL 1-3
10. Tran Neta Pta Mlos
● Presence at birth
● Small pustules > fine scale around >
hyperpigmented brown macules
● forehead , chin, lower back, shins
● Unknown cause
● Spontaneous resolved after 1-2 weeks
but hyperpigmentation persist months
• Presence at birth
• Small pustules >
fi
ne scale around > •
hyperpigmented brown macules
• forehead, chin, lower back, shins
• Unknown cause
• Spontaneous resolved after 1-2 weeks
but hyperpigmentation persist months
Transient Neonatal Pustular Melanosis
¡laure 7A1 A ransent neonatal pustular me lanosis irst appears as small superica pustules without niammation I Collarettes of scal
12. Acosos Inac
● Less than age 1 year
● Uncommon pruritic vesiculopapular
rash on hand & feet
● Preceding infection (scabies 50%,
coxsackievirus)
● Frequent recurrences until complete
resolution 2-3 years of age
● Topical corticosteroids (not prevent
relapse)
● Dapsone (historically)
• Less than age 1 year
rash on hand & feet
• Preceding infection (scabies 50%,
• Frequent recurrences until complete
resolution 2-3 years of age
• Topical corticosteroids (not prevent
• Dapsone (historically)
Acropustulosis of Infancy
• Uncommon pruritic vesiculopapular
coxsackievirus)
relapse)
13. Mil
● Seen at birth 40-50% of newborn
● Tiny white monomorphic papules
with smooth surface
● Content : tiny white pearl
(keratinocyte debris)
● Most common on face
● Spontaneous resolved several
months
Milia
• Seen at birth 40-50% of newborn
• . Tiny white monomorphic papules
with smooth surface
• Content: tiny white pearl
• Most common on face
• Spontaneous resolved several .
months
(keratinocyte debris)
14. Mili
● Obstruction of eccrine duct
● First 1-2 weeks > resolved within days
● Miliaria crystallina
● Miliaria rubra: overheating
(recurrence : type I pseudohypoaldosteroinism)
● Miliaria pustulosa
● Miliaria profunda : rare
● Prevent overheating
● No treatment required
Miliana Crystallina
• Obstruction of eccrine duct
• First 1-2 weeks > resolved within days
• Miliaria crystallina
• Miliaria rubra: overheating
• Prevent overheating
• No treatment required
Miliaria
Miliana mora
Miliaria pustulosa Miliaria profunda
(recurrence : type | pseudohypoaldosteroinism)
• Miliaria pustulosa
• Miliaria profunda : rare
15. Epen Pas & Bo de
● Single/clustered
smooth white
papules
● Inclusion cysts
● Spontaneous
resolved in
weeks-months
Epstein pearls :
between
hard-soft palate
Bohn nodules:
alveolar ridge
Epstein Pearls & Bohn Nodules
• Single/clustered
smooth white
• Inclusion cysts
• Spontaneous
resolved in
weeks-months
Epstein pearls:
between
hard-soft palate
alveolar ridge
papules
Bohn nodules:
16. Sebo Hypa
● Regular smooth white
papules grouped
around follicles
● Nose & upper lip
● Secondary to maternal
androgens
● Spontaneous resolved
in few weeks
Milia
• Regular smooth white
papules grouped
around follicles
• Nose & upper lip
• Secondary to maternal
androgens
• Spontaneous resolved
in few weeks
Sebaceous Hyperplasia
sebaceous cyst
hyperplasia
17. Nena Cpic Plo
● Neonatal acne
● Within 30 days of age
● Erythematous papules &
pustules on cheek, chin,
forehead
● Increased Malassezia
colonization
● Last up to months
● Topical antifungals may
shortening course
• Within 30 days of age
pustules on cheek, chin,
forehead
colonization
• Last up to months
shortening course
Neonatal Cephalic Pustulosis
• Neonatal acne
• Erythematous papules &
• Increased Malassezia
• Topical antifungals may
18. Sebhi Dmis
● 2-4 weeks of age
● Irregular salmon patches with waxy
scaling
● Scalp, forehead, nasolabial folds,
diaper area
● Association atopic dermatitis
● Spontaneous resolved by 1 year of age
● Topical corticosteroid, antifungal
● Avoid olive oil
• 2-4 weeks of age
• Irregular salmon patches with waxy®
scaling
• Scalp, forehead, nasolabial folds,
diaper area
• Association atopic dermatitis
• Spontaneous resolved by 1 year of age
• Topical corticosteroid, antifungal
• Avoid olive oil
Seborrheic Dermatitis •
20. Dip Demis
● Irritant process
● Erythema with mild scaling of
gluteal crease, buttocks with
sparing skinfolds
● Avoid prolonged contact with
soiled diaper
● Zinc oxide ointment/ zinc paste
● Petroleum jelly
● Topical steroid
● Anti-candida agent can be
added
Diaper Dermatitis
• Irritant process
• Erythema with mild scaling of
• gluteal crease, buttocks with
sparing skinfolds
• Avoid prolonged contact with
soiled diaper
• Zinc oxide ointment/ zinc paste
• Petroleum jelly
• Topical steroid
• Anti-candida agent can be
added
21. Harin C ha Der Mlayis
● Rare but benign
● Immaturity of hypothalamic
control center
● Rapid resolution
● Mongolian spots
● Well-demarcated deep blue
pigmented macules at buttock/back
● Excessive number of melanocyte
● Fade over time (years)
Harlequin Color Change
Rare but benign
Immaturity of hypothalamic
control center
• Rapid resolution
• Mongolian spots
• Well-demarcated deep blue
pigmented macules at buttock/back
• Excessive number of melanocyte
• Fade over time (years)
Dermal Melanocytosis
1-2 days resolve
22. Subne Fa cis
● First several weeks
● Poorly demarcated tender
nodules/plaques with underlying
reddish hue
● Fat pads area
● Local produce vitamin D >>
hypercalcemia
● perinatal/ intrauterine trauma
● Resolved weeks-months
● Monitor Ca level
Subcutaneous Fat Necrosis
• First several weeks
• Poorly demarcated tender
nodules/plaques with underlying
• Fat pads area
• Local produce vitamin D >>
• perinatal/ intrauterine trauma
• Resolved weeks-months
• Monitor Ca level
reddish hue
hypercalcemia
Non tender
ไม่ได้บ่อย
23. Cut mo
● Common in preterm
● Netlike violaceous reticular
blanching affecting extremities
● Resolved with warming
● Transient shift of skin blood flow
● Resolved 1 month of age
● Down syndrome, trisomy 18,
hypothyroidism, Cornelia de
Lange syndrome
● Cutis marmorata telangiectasia
• Common in preterm
• Netlike violaceous reticular
blanching affecting extremities
• Resolved with warming
• Transient shift of skin blood
fl
ow
• Resolved 1 month of age
• Down syndrome, trisomy 18,
hypothyroidism, Cornelia de
Lange syndrome
Cutis Marmorata
• Cutis marmorata telangiectasia
Unilateral limb → causes limb atrophy, jt
contraction
May be benign but
May be Hypothermia, Shock
24. Apa Cut ge
● Loss of skin on scalp
● Open ulceration/ healed atrophic
scar
● Hair collar sign >
neurodevelopment
● No distinct cause
● Variants
● Lesion will heal but left the scar
• Loss of skin on scalp
• Open ulceration/ healed atrophie
scar
• Hair collar sign >
• No distinct cause
• Variants
• Lesion will heal but left the scar
Aplasia Cutis Congenita
neurodevelopment
28. Omal ● S.aureus, S.epidermidis,
Streptococcus spp., E.coli.
C.difficile, Klebsiella
● Edema, erythema, tenderness,
discharge
● Gram stain/ Culture
contaminated easily
● Empiric ampicillin + Gentamicin
switch to oral ATB if skin is
improved
● Dry cord care, topical
chlorhexidine
• Edema, erythema, tenderness,
discharge
• Gram stain/ Culture
contaminated easily
switch to oral ATB if skin is
improved
• Dry cord care, topical
Omphalitis
• S.aureus, S.epidermidis,
Streptococcus spp., E.coli.
C.dif
fi
cile, Klebsiella
• Empiric ampicillin + Gentamicin
chlorhexidine
Complication:
Portal vein
thrombosis
29. Can Inet
● Confluent erythema with scalloped
edge and satellite papules
● Topical antifungal
● Nystatin suspension
100,000-200,000 units QID for 7–14
days
● Oral/ IV fluconazole
Candida Infection
Satellite lesions
Beefy Red plaques
• Con
fl
uent erythema with scalloped • Nystatin suspension
100,000-200,000 units QID for 7-14
• edge and satellite papules
days
• Topical antifungal
• •Oral/ IV
fl
uconazole •
30. Conta Cdis
● Ascending infection
● First day of life
● Erythematous vesicopustules with
intense erythema background,
spared mucosa
● At risk newborn : systemic treatment
Congenital Candidiasis
• Ascending infection
• First day of life
intense erythema background,
spared mucosa
• At risk newbörn : systemic treatment
C
• Erythematous vesicopustules with
D
31. Priy Caus Arlo
● Premature
● Traumatic insult
● Amphotericin B
Primary Cutaneous Aspergillosis
• Traumatic insult
30 м
• Fig. 93.5 Primary Cutaneous Aspergillosis. Erythematous plaques
and broad pustules, many with dusky centers, on the back of a premature
• Premature
• Amphotericin B
neonate.
32. Tin or & Cat
● Uncommon
● Risk : moist
environment,
antibiotics used,
frequent application
of tapes
● Alopecia, erythema,
scale
● topical / oral
antifungal
• Fig. 93.6 Tinea Corporis. Annular erythema with central clearing on
the forehead of an infant. Note the presence of erythematous papules and
super
fi
cial scale on the periphery of the lesion.
• Uncommon
environment,
antibiotics used,
frequent application
of tapes
scale
• topical / oral
Tinea Corporis & Capitis
• Risk : moist
• Alopecia, erythema, •
antifungal
33. Her Smex V Inet
● Uncommon, DOL 6-13
● Vertical transmission
● Skin, eye, mouth (SEM
disease)
● First week of life
● BT instability, lethargy,
irritability
● 30% CNS involvement
● Congenital : microcephaly,
intracranial lesion, optic atrophy,
chorioretinitis
● IV acyclovir
Herpes Simplex Virus Infection
• Fig. 93.7 Congenital Herpes Simplex Virus Infection. Broad ulcer-
ation with peripheral vesiculation and desquamation on the left arm of a
neonate. (Photo courtesy of Albert Yan, MD, The Children's Hospital of
Philadelphia.)
• Uncommon, DOL 6-13 .
• Vertical transmission
• Skin, eye, mouth (SEM
disease)
• First week of life
• BT instability, lethargy,
irritability
• 30% CNS involvement
intracranial lesion, optic atrophy,
• Congenital: microcephaly,
• chorioretinitis
• IV acyclovir
35. Café Lat us
● Well demarcated light
brown macules
• Fig. 95.23 Multiple café au lait spots presenting on an infant with neu-
ro
fi
bromatosis type 1. The presence of six of more café au lait spots larger
than 0.5 cm in diameter on an infant and larger than 1.5 cm in adolescents
is suggestive of the possibility of neuro
fi
bromatosis type 1. The presence
of only café au lait spots does not meet the criteria for de
fi
nitive diagnosis.
• Well demarcated light
. brown macules
• BOX 95.1 Syndromes Associated With Multiple Café
Neuro
fi
bromatosis type 1 and type 2
Legions syndrome
Watson syndrome
McCune-Albright syndrome
Noonan syndrome
Noonan syndrome with multiple lentigines (LEOPARD syndrome)
Tuberous sclerosis
Bloom syndrome
Russell-Silver syndrome
Turner syndrome
Café au Lait Macules
au Lait Macules
Bannayan-Riley-Ruvalcaba syndrome
Ataxia-telangiectasia
37. • Fig. 95.20 Nevus depigmentosus presenting as a well-demarcated
hypopigmented patch that tends to be circular or oval.
size. (B) Large congenital melanocytic nevus involving the neck and back
with multiple smaller "satellite" nevi on the arms and lower back.
brown macules and papies eithe pa lan patch with muliple darker
• Fig. 95.26 (A) Congenital melanocytic nevus with hypertrichosis, small
39. Hemom
● Precursor within first few
weeks
● Latency period 1-3 weeks >
rapid proliferation 3 mo
● Superficial (capillary),
deep(cavernous), mixed
● Ulceration, disfiguration
● Treatment: topical,
systemic, surgical
• Fig. 95.3 Infantile hemangioma, super
fi
cial type, located on the upper
arm of an infant.
• Precursor within
fi
rst few
weeks
* Latency period 1-3 weeks >
rapid proliferation 3 mo
• Super
fi
cial (capillary),
• Ulceration, dis
fi
guration
• Treatment: topical,
systemic, surgical
• Fig. 95.4 Infantile hemangioma, deep type, located on the lower back
of an infant.
Hemangioma
deep(cavernous), mixed
40. TABLE
95.3
Clinical Presentation of Hemangioma
Large facial hemangioma/segmental facial
Indications for Work-Up of Extracutaneous Anomalies Associated With Infantile Hemangiomas
Large lower trunk or lower extremity
Beard distribution hemangiomas
Breast hemangioma/large segmental chest
Midline hemangiomas (with other cutaneous
markers)
Segmental proximal upper extremity
hemangioma with extension onto the chest
Association
PHACE syndrome
Ocular complications
Consumptive hypothyroidism, congestive heart
failure, airway hemangioma
LUMBAR syndrome
PELVIS syndrome
Evaluation for respiratory distress
PHACE syndrome or cardiac abnormality
MRA, Magnetic resonance angiography; MRI, magnetic resonance imaging.
Evaluation
MRI/MRA of the brain and neck, echocardiogram,
ophthalmology evaluation
Abdominal ultrasound examination with Doppler
imaging
Ophthalmology evaluation
MRI of lumbar spine and pelvis, neurosurgical
evaluation
MRI of lumbar spine and pelvis, neurosurgical
evaluation, urologic evaluation
Otolaryngology evaluation and MRI of the neck
Consider systemic treatment
Spinal ultrasound examination at <3 months of
age, MRI of the spine
hemangioma >5 cm
Multifocal hemangiomas ≥5 cm
Periocular hemangioma
Parotid hemangioma
Lumbosacral hemangioma > 2.5 cm
hemangioma
hemangioma
Extracutaneous hemangiomas, especially hepatic
hemangiomas
Breast hypoplasia
Spinal dysraphism
Echocardiogram
41. 23:50 Mon 26 Feb
<
Dermatologic Conditions
• Fig. 95.16 (A) Port-wine stain of the periocular area, forehead, and scalp. (B) Port-wine stain involving
the posterior auricular scalp, neck, cheek, and ear.
1793
18...
'rominent and persistent nevus simplex can be associ- The degree of CNS involvement is variable in SWS, ranging
al lesions to intractable seizures and intellectual
•ll 4G < 78% (
TOS
PART XIX
B
nderlying syndromes such as Beckwith-Wiede
42. Ven Mafti
● Slow-flow
● Ill-defined venous channels
with abnormal vessel walls
lacking smooth muscle
● Soft, blue-purple tumors
with tortuous vessels
● Thrombi / bleeding
Venous Malformation.
• Slow-
fl
ow
• • I||-de
fi
ned venous channels
with abnormal vessel walls
lacking smooth muscle
• Soft, blue-purple tumors
with tortuous vessels
• Thrombi / bleeding
• Fig. 95.17 A venous malformation on the sole of the foot.
43. Lyha Mlomo
● Slow-flow
● Head & neck region :
airway compromise
● Rapamycin (mTOR
inhibitor)
● Surgical excision,
sclerotherapy, laser
treatment
Lymphatic Malformation
• Head & neck region :
airway compromise
• Surgical excision,
sclerotherapy, laser
treatment
Fig. 95.18 A super
fi
cial lymphatic malformation on the back presenting
vith characteristic hemorrhagic papules and vesicles.
• Slow-
fl
ow
• Rapamycin (mTOR
inhibitor)
44. Areve Malmi
● Fast-flow
● Head, neck, brain
● Do not resolve spontaneously,
become larger & symptomatic
● Bleeding, interosseous
changes, high-output cardiac
failure
Arteriovenous Malformation
• Head, neck, brain
• Do not resolve spontaneously,
become larger & symptomatic
• Bleeding, interosseous
changes, high-output cardiac
failure
• Fig. 95.19 Arteriovenous malformation of the hand causing distortion
and contracture of the hand.
• Fast-
fl
ow
46. Ichos
● Disorder of Cornification
● Manifest as scaling only, scaling &
erythroderma, collodion membrane,
harlequin ichthyosis
• Disorder of Corni
fi
cation
• Manifest as scaling only, scaling &
TABLE Clinical Presentation of Ichthyoses in
94.3 the Newborn
Generalized scaling
Collodion baby
Blisters/erosions
Netherton syndrome, KID
syndrome, CIE
Also consider: Omenn syndrome,
Larsson syndrome,
storage disease
healing collodion baby, harlequin
neutral lipid storage disease
Also consider: ectodermal
dysplasias, Gaucher disease
Also consider: epidermolysis
Ichthyosis
erythroderma, collodion membrane,
harlequin ichthyosis
(A)
(B)
Phenotype
Erythroderma
Vernix-like
hyperkeratosis
Constrictivernales
Type of Ichthyosis
SCID, ectodermal dysplasia,
erythrodermic psoriasis
XLI, Netherton syndrome, Sjögren-
trichothiodystrophy, neutral lipid
Lamellar ichthyosis, CIE, self-
ichthyosis (mild), Sjögren-Larsson
syndrome, trichothiodystrophy,
Harlequin ichthyosis, KID syndrome
Harlequin ichthyosis
Epidermolytic ichthyosis, ichthyosis
bullosa of Siemens
bullosa, TEN, SSSS,
immunobullous disease,
mastocytosis
47. Colon B
Collodion Body TABLE
92.4
• Fig. 92.2 Collodion baby born encased in shiny, thickened skin that
resembles plastic wrap.
Metabolic
diseases
Other
diseases
Disorders That May Present as a Collodion Baby
Self-healing collodion baby
sclerosing
Neutral lipid storage disease with ichthyosis
syndrome
Gaucher disease type 2
• Fig. 92.3 Three-week-old male with generalized large scales character-
istic of lamellar ichthyosis after shedding of collodion membrane.
Nonsyndromic
ichthyoses
Syndromic
ichthyoses
Autosomal recessive congenital ichthyosis: lamellar
ichthyosis and congenital ichthyosiform
erythroderma phenotypes
Ichthyosis vulgaris
X-linked recessive ichthyosis epidermolytic ichthyosis
Bathing suit ichthyosis
Keratosis linearis with ichthyosis congenital and
Loricrin keratoderma
Ichthyosis follicularis-atrichia-photophobia syndrome
Trichothiodystrophy with ichthyosis
Conradi-Hünermann-Happle syndrome
Keratitis-ichthyosis-deafness syndrome
Loricrin keratoderma
Arthrogryposis-renal dysfunction-cholestasis
Holocarboxylase synthetase de
fi
ciency
Hypohidrotic ectodermal dysplasia
Congenital hypothyroidism
Koraxitrachitic syndrome
Palmoplantar keratoderma with anogenital
leukokeratosis
48. Epimsi Bla
● Group of mechanobullous disorder
● Gene mutation : adhesion protein
at BM zone > blister
● EB simplex (epidermis), junctional
EB (lamina lucida), dystrophic EB
(dermis)
• Group of mechanobullous disorder
• Gene mutation : adhesion protein
at BM zone > blister
Epidermolysis Bullosa.
• EB simplex (epidermis), junctional
EB (lamina lucida), dystrophic EB
(dermis)
49. Inotti Pen
● Mutation IKBKG gene (NEMO),
chromosome Xq28
● X-linked ectodermal dysplasia
● Cutaneous lesion at birth & 1st week
● 4 stages
○ vesiculopapular in whorled pattern:
Blaschko lines
○ Verrucous
○ Hyperpigmentation
○ Atrophic, hypopigmentation
● Resolve spontaneously
● Ocular, CNS, teeth, hair, nails
● MRI brain, EEG, consult eye
Incontinentia Pigmenti
• Fig. 94.9 Incontinentia pigmenti. Erythematous vesicopapular lesions
following the lines of Blaschko in a V-shaped con
fi
guration over the
dorsal skin. Lesions typically evolve through verrucous, hyperpig-
mented stages to
fi
nally manifest hypopigmentation and dermal
atrophy. (Courtesy of Dr. Taeun Chang.)
• Mutation IKBKG gene (NEMO),
chromosome Xq28
• X-linked ectodermal dysplasia
• 'Cutaneous lesion at birth & Ist week
• 4 stages
vesiculopapular in whorled pattern:
Blaschko lines
• Verrucous
• Hyperpigmentation
• Atrophic, hypopigmentation
Resolve spontaneously
Ocular, CNS, teeth, hair, nails
MRI brain, EEG, consult eye•
50. following the lines of Blaschko in a V-shaped con
fi
guration over the
dorsal skin. Lesions typically evolve through verrucous, hyperpig-
mented stages to
fi
nally manifest hypopigmentation and dermal
atrophy. (Courtesy of Dr. Taeun Chang.)
• Fig. 94.10 Recalcitrant perioral eruption caused by zinc de
fi
ciency in
an infant with acrodermatitis enteropathica. Note the "horseshoe-like"
involvement with relative sparing of the upper lip.
A similar eruption has been observed in premature
infants maintained on total parenteral nutrition inade-
quately supplemented with zinc. These
Localized Hyperpigmentation
Café au lait spots are flat, pigmented macules with dis-
tinct borders that may be present in the newborn infant
and are light brown in whites and dark brown in blacks.
Whereas lesions are seen in 24%-36% of older children,
most commonly on the trunk, they are present in 0.3%-
18% of newborns, usually over the buttocks." Lesions vary
with ethnicity and race; they are seen over the buttocks in
newborns. Lesions that are larger than 0.5 cm in diameter
and more than six in number, especially when accompa-
nied by "freckling" in the flexures, strongly suggest neuro-
fibromatosis. The axillary freckles really represent tiny café
au lait macules. Café au lait spots are usually the first cuta-
neous lesions to appear in a patient with neurofibromatosis,
but additional genetic and clinical investigations may be
required to establish a diagnosis. For example, small, pig-
mented spots (i.e., Lisch nodules) may be detected on the
iris by slit-lamp examination in most patients older than 6
years with classic neurofibromatosis. Patients with tuberous
sclerosis also may have café au lait spots that are identi~
in appearance to those of neurofibromatosis, but they 12001
usually accompanied by white macules, which are call /
ash leaf macules. 2157
McCune-Albright Syndrome
In a patient with McCune-Albright syndrome (i.e., p
vcrime disorders), the pigmented patches may be :
• Fig. 94.9 Incontinentia pigmenti. Erythematous vesicopapular lesions
Cafe au Lait Macules
ostotic bone dysplasia, café au lait spots, and mult
end
51. Refрencс
References
Copyrighted Material
Richard J. Martin
Michele C. Walsh
MEDICINE
Diseases of the Fetus and Infant
ELEVENTH EDITION
Copyrighted Material
Eleventh Edition
DISEASES of the
NEWBORN
DIGITAL
VERSION
Christine A. Gleason • Taylor Sawyer
Normal findings and common problems in neonates
Avroy A. Fanaroff
Fanaroff & Martin's
NEONATAL-PERINATAL
ELSEVIER
AVERY'S
ATLAS
