Schneiderman Prelims Vol-I. qxd

52
A CLINICIAN
’
S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1
Schneiderman page 1-100.qxd 5/16/2006 6:49 PM Page 52

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Trisomy 13 (trisomy D (13–15) – membranous aplasia cutis;
holoprosencephaly, seizures, ocular abnormalities, deafness,
neural tube defects
Deletion of short arm of chromosome 4 (4p (–) syndrome) –
mental retardation, deafness, seizures, ocular abnormalities
Oculocerebrocutaneous syndrome – membranous aplasia
cutis; orbital cysts, cerebral malformations, facial skin tags,
seizures, developmental delay
Opitz syndrome – membranous aplasia cutis; hypertelorism,
cleft lip/palate, hypospadias, crytorchidism
Johnson–Blizzard syndrome – small stellate defects;
membranous aplasia cutis; dwarfism, mental retardation,
deafness, hypothyroidism, pancreatic insufficiency
Focal dermal hypoplasia
Bitemporal aplasia cutis congenita (Setleis syndrome) 
Focal facial dermal dysplasia
Amnion rupture malformation sequence
Congenital erosive and vesicular dermatosis with reticulate
supple scarring
Lumpy scalp, odd ears, and rudimentary nipples
Ectrodactyly–ectodermal dysplasia–cleft lip/palate (EEC)
syndrome
Scalp–ear–nipple syndrome – autosomal dominant; aplasia
cutis congenita of the scalp, irregularly shaped pinna,
hypoplastic nipple, widely spaced teeth, partial syndactyly 
Am
J Med Genet 50:247–250, 1994
Tricho–odonto–onychodermal dysplasia syndrome
Others – cleft lip and palate, ear pits, ear deformities
X-p22 microdeletion syndrome – bilateral linear defects of
malar region; microphthalmia, sclerocornea
Atrophia maculosa varioliformis cutis
Atrophoderma of Pasini and Pierini
Collagenome perforante verruciform 
Ann DV 90:29–36, 1963
Epidermolysis bullosa – benign juvenile epidermolysis
bullosa – cigarette paper scars 
JAAD 14:508–509, 1986;
cicatricial junctional epidermolysis bullosa 
JAAD 12:836–844,
1985; epidermolysis bullosa dystrophica inversa – pitted heel
scars 
AD 124:544–547, 1988; dominant dystrophic
epidermolysis bullosa; junctional epidermolysis bullosa
Familial acne conglobata – pitted antecubital scars 
JAAD
14:207–214, 1986
Focal facial dermal dysplasias 
JAAD 27:575–582, 1992;
bitemporal scarring 
JAAD 18:1203–1207, 1988
Hidradenitis suppurativa
Mid-dermal elastolysis – wrinkled scars 
JAAD 26:169–173, 1992
Pityriasis rosea, vesicular