Schneiderman Prelims Vol-I. qxd

PHOTOSENSITIVE DISEASES
Trichothiodystrophy syndromes – BIDS, IBIDS, PIBIDS – sparse
or absent eyelashes and eyebrows, brittle hair, premature aging,
sexual immaturity, ichthyosis, dysmyelination, bird-like facies,
dental caries; trichothiodystrophy with ichthyosis, urologic
malformations, hypercalciuria and mental and physical retardation
JAAD 44:891–920, 2001; Ped Derm 14:441–445, 1997
PRIMARY CUTANEOUS DISEASES
Adolescent-onset ichthyosiform erythroderma
BJD 144:1063–1066, 2001
Annular epidermolytic ichthyosis – variant of bullous
congenital ichthyosiform erythroderma – mutation in keratin
10 
BJD 141:642–646, 1999; JID 111:1220–1223, 1998;
JAAD 27:348–355, 1992
Asteatotic dermatitis (erythema cracquele) 
Bullous congenital ichthyosiform erythroderma (epidermolytic
hyperkeratosis) – autosomal dominant; warty hyperkeratosis;
palmoplantar keratoderma 
Curr Prob Derm 14:71–116, 2002;
Rook p.1505–1507, 1998, Sixth Edition
Collodion baby (lamellar exfoliation of the newborn) 
Textbook
of Neonatal Dermatology, p.278, 2001; Rook p.1494, 1998,
Sixth Edition; Ann Dermatol Syphiligr 3:149–15, 1884
Collodion baby, ichthyosiform erythroderma, episodic pustular
psoriasis 
Cutis 37:162–164, 1986
Conradi–Hünermann disease
Gaucher’s disease 
Eur J Pediatr 154:418–422, 1995
Ichthyosis follicularis with atrichia and photophobia (IFAP) –
collodion membrane and erythema at birth; ichthyosis, spiny
(keratotic) follicular papules (generalized follicular keratoses),
non-scarring alopecia, keratotic papules of elbows, knees,
fingers, extensor surfaces, xerosis; punctate keratitis,
photophobia; nail dystrophy, psychomotor delay, short stature;
enamel dysplasia, beefy red tongue and gingiva, angular
stomatitis, atopy, lamellar scales, psoriasiform plaques,
palmoplantar erythema 
Curr Prob Derm 14:71–116, 2002;
JAAD 46:S156–158, 2002; BJD 142:157–162, 2000;
Am J Med Genet 85:365–368, 1999; Ped Derm 12:195, 1995;
AD 125:103–106, 1989; Dermatologica 177:341–347, 1988
Ichthyosis vulgaris
Koraxitrachitic syndrome – self-healing collodion baby with
residual mottled reticulated atrophy; alopecia, absent
eyelashes and eyebrows, conjunctival pannus, hypertelorism,
prominent nasal root, large mouth, micrognathia,
brachydactyly, syndactyly of interdigital spaces 
Am J Med
Genet 86:454–458, 1999
Lamellar ichthyosis – autosomal recessive, dominant
Loricrin keratoderma – congenital ichthyosiform erythroderma
and collodion baby 
BJD 145:657–660, 2001
Neutral lipid storage disease
Non-bullous congenital ichthyosiform erythroderma
Netherton’s syndrome
Sjögren–Larsson syndrome
Self-healing collodion baby (lamellar ichthyosis of the
newborn) 
AD 105:394–399, 1972
Palmoplantar keratoderma J Med Assoc Thai 76:17–22, 1993
Trichothiodystrophy
X-linked ichthyosis
Confluent and reticulated papillomatosis
Cyclic ichthyosis with epidermolytic hyperkeratosis
Am J Hum Genet 64:732–738, 1999
Darier’s disease
Epidermolytic hyperkeratosis 
AD 130:1026–1035, 1994
Erythrokeratoderma hiemalis
Erytherokeratoderma variabilis 
Textbook of Neonatal
Dermatology, p.287, 2001
Erythrokeratoderma with ataxia
Exfoliation of the newborn
Fine scaling, keratosis pilaris, periorificial crusting, palmoplantar
hyperkeratosis, blistering 
JAAD 34:379–385, 1996
Follicular ichthyosis 
BJD 111:101–109, 1984
Harlequin fetus (ichthyosis congenital fetalis) – autosomal
recessive; rigid plates; severe non-bullous ichthyosiform
erythroderma or mild erythrodermic ichthyosis
BJD
153:811–814, 2005; Curr Prob Derm 14:71–116, 2002; JAAD
212:335–339, 1989; Ped Derm 6:216–221, 1989; Int J Derm
21:347–348, 1982
Ichthyosiform dermatosis with superficial blister formation and
peeling 
JAAD 34:379–385, 1996
Ichthyosiform erythroderma with generalized pustulosis
BJD 138:502–505, 1998
Ichthyosis bullosa of Siemens – autosomal dominant; mutation
of keratin 2e; superficial blistering of flexures, shins, abdomen
with annular peeling; gray rippled hyperkeratosis of extremities,
lower trunk, flexures; hypertrichosis; circumscribed patchy
scaling (mauserung); palmoplantar blistering with hyperhidrosis
Curr Prob Derm 14:71–116, 2002; BJD 140:689–695, 1999;
JID 103:277–281, 1994; JAAD 14:1000–1005, 1986
Ichthyosis, cerebellar degeneration, and hepatosplenomegaly
BJD 100:585–590, 1979
Ichthyosis congenita, type IV – resembles diffuse cutaneous
mastocytosis 
BJD 136:377–379, 1997