Schneiderman Prelims Vol-I. qxd

SYNDROMES
Cystic fibrosis – autosomal recessive; dermatitis due to dietary
deficiencies associated with the patient’s pancreatic dysfunction
acrodermatitis enteropathica-like changes 
Textbook of Neonatal
Dermatology, p.267, 2001; AD 128:1358–1364, 1992; JAAD
25:896–897, 1991; AD 119:l51–155, 1983; at initial presentation
of cystic fibrosis 
AD 128:1358, 1992
Goltz’s syndrome – perioral papules
Clin Exp Dermatol
30:35–37, 2005; Cutis 53:309–312, 1994
Hereditary mucoepithelial dysplasia (dyskeratosis)
(Gap junction disease, Witkop disease) – red eyes, non-scarring
alopecia, keratosis pilaris, erythema of oral(palate, gingiva) and
nasal mucous membranes, cervix, vagina, and urethra; perineal
and perigenital psoriasiform dermatitis; increased risk of
infections, fibrocystic lung disease 
BJD 153:310–318, 2005;
Ped Derm 11:133–138, 1994; JAAD 21:351–357, 1989;
Am J Hum Genet 31:414–427, 1979; Oral Surg Oral Med
Oral Pathol 46:645–657, 1978
Hereditary perioral pigmented follicular atrophoderma
associated with milia and epidermoid cysts 
BJD 139:713–718,
1998
KID syndrome – keratosis, ichthyosis, deafness syndrome –
fixed orange, symmetrical hyperkeratotic plaques of scalp,
ears, and face with perioral rugae; aged or leonine facies;
erythrokeratoderma-like; later hyperkeratotic nodules develop
Ped Derm 17:115–117, 2000; Ped Derm 13:105–113, 1996
Mal de Meleda – autosomal dominant, autosomal recessive;
transgrediens with acral erythema in glove-like distribution;
perioral erythema and hyperkeratosis 
Dermatology 203:7–13,
2001; AD 136:1247–1252, 2000; J Dermatol 27:664–668, 2000;
Dermatologica 171:30–37, 1985
Netherton’s syndrome
Bull Soc Fr Dermatol Syphiligr
78:641–644, 1971
Olmsted syndrome – periorificial keratotic plaques;
congenital diffuse sharply marginated transgradient
keratoderma of palms and soles, onychodystrophy, constriction
of digits, diffuse alopecia, thin nails, chronic paronychia,
leukokeratosis of oral mucosa, linear keratotic streaks, follicular
keratosis, constriction of digits (ainhum), anhidrosis, small
stature; differential diagnostic considerations include Clouston
hidrotic ectodermal dysplasia, pachyonychia congenita,
acrodermatitis enteropathica, Vohwinkel’s keratoderma,
mal de Meleda, and other palmoplantar keratodermas 
JAAD
53:S266–272, 2005; Ped Derm 21:603–605, 2004; Ped Derm
20:323–326, 2003; BJD 136:935–938, 1997; AD 132:797–800,
1996; JAAD 10:600–610, 1984; Am J Dis Child 33:757–764,
1927
Shwachman syndrome – autosomal recessive; exocrine
pancreatic insufficiency and bone marrow hypoplasia with
neutropenia; cutaneous signs include generalized erythematous
scaling eruptions, recurrent skin infections, generalized xerosis,
red hands, and follicular keratoses of the trunk 
Ped Derm
9:57–61, 1992
Wiskott–Aldrich syndrome