contractures, low-set ears, sloping forehead, short neck; small
genitalia, eyelid and lip closures, syndactyly, cleft lip and palate,
micrognathia;
autosomal recessive; uniformly fatal
Ped Derm
20:25–27,78–80, 2003; Curr Prob Derm 14:71–116, 2002;
Am J Med Genet 35:55–59, 1990
Neutral lipid storage disease (Dorfman–Chanarin syndrome)
–
autosomal recessive; triglyceride-related non-lysosomal storage
disease; at birth collodion baby or ichthyosiform erythroderma;
thereafter pattern resembles
non-bullous ichthyosiform
erythroderma; erythrokeratoderma variabilis-like presentation;
seborrheic dermatitis-like around face and scalp; hypohidrosis;
ectropion; palmoplantar hyperkeratosis, white blood cell
vacuoles, myopathy, fatty liver, CNS disease, deafness;
generalized scaling, mild erythroderma; resembles congenital
ichthyosiform erythroderma; neurosensory deafness,
mental
retardation, nystagmus, ataxia, cataracts, myopathy,
hepatosplenomegaly; mutation in ABHD5 which encodes protein
of esterase/lipase/thioesterase subfamily
BJD 153:838–841,
2005; Curr Prob Derm 14:71–116, 2002; BJD 144:430–432,
2001; Clin Exp Dermatol 19:434–437, 1994; Ped Derm
5:173–177, 1988; JAAD 17:801–808, 1987; AD 121:1000–1008,
1985; harlequin fetus Dermatologica 177:237–240, 1988;
collodion baby
Arch Dis Child 77:184, 1997
Noonan’s syndrome
Oral and digital anomalies with ichthyosis
Peeling skin syndrome
POEMS syndrome – polyneuropathy, organomegaly (heart,
kidneys, spleen), endocrinopathy,
M protein, skin changes
(angiomas, clubbed nails, hyperpigmentation, hypertrichosis,
leukonychia, hyperhidrosis
Cutis 61:329–334, 1998;
JAAD 19:979–982, 1988
Refsum’s syndrome – phytanic acid oxidase deficiency –
autosomal recessive; late onset mild ichthyosis vulgaris-like,
some with lamellar type scale; retinitis pigmentosa, cataracts;
deafness, anosmia, sensorimotor polyneuropathy
Curr Prob
Derm 14:71–116, 2002; J R Soc Med 84:559–560, 1991
Restrictive dermopathy – autosomal recessive; collodion
baby-like appearance;
AD 134:577–579, 1998
Reticular ichthyosiform erythroderma with evolving patches of
normal skin, hypertrichosis, no collodion membrane
Dermatology 188:40–45, 1994
Rud’s syndrome – ichthyosis with hypogonadism; congenital
ichthyosis, hypogonadism, mental retardation, retinitis
pigmentosa, hypertrophic polyneuropathy
Neuropediatrics
13:95–98, 1982
Rhizomelic dwarfism – autosomal recessive; chondrodysplasia
punctata
with mild ichthyosis
Ped Derm 18:442–444, 2001
Schwachman’s syndrome (ichthyosis, exocrine pancreatic
insufficiency, impaired neutrophil chemotaxis, growth
retardation, metaphyseal dysplasia)
Ped Derm 9:57–61, 1992;
AD 127:225–230, 1991
Shokeir syndrome – proportionate short stature, absent thumbs,
anosmia, ichthyosiform dermatosis, congenital heart defect
Am
J Med Genet 66:378–398, 1996
Sjögren–Larsson syndrome – autosomal recessive; ichthyosis
with light peeling of trunk and lamellar-like ichthyosis of lower
legs, mild to moderate mental retardation, spastic diplegia,
short stature, kyphoscoliosis, retinal changes,
yellow
pigmentation, intertrigo – deficiency of fatty aldehyde
dehydrogenase
Curr Prob Derm 14:71–116, 2002; Chem Biol
Interact 130–132:297–307, 2001; Am J Hum Genet
65:1547–1560, 1999; JAAD 35:678–684, 1996; Acta Psychiatr
Scand 32:1–112, 1957
Tay’s syndrome (trichothiodystrophy) – collodion baby
Pediatrics
87:571–574, 1991; ichthyosiform erythroderma Pediatrics
87:571–574, 1991; Ped Derm 6:202–205, 1989
Trichothiodystrophy syndromes – BIDS, IBIDS, PIBIDS –
autosomal recessive; collodion baby or congenital
erythroderma, ichthyosis with fine scaling; ichthyosis vulgaris-
like; erythrodermic hypohidrotic-like, lamellar-like; palmoplantar
hyperkeratosis; hypoplastic
ear cartilage; parchment-like skin,
brittle sparse eyebrow and scalp hair, premature aging, with
elfin-like face with fat atrophy, prominent ears, recessed chin;
sexual immaturity, very short stature; dysmyelination, bird-like
facies, dental caries; trichothiodystrophy with ichthyosis,
urologic malformations, hypercalciuria
and mental and physical
retardation
Curr Prob Derm 14:71–116, 2002; Ped Derm
14:441–445, 1997; JAAD 44:891–920, 2001
Unusual facies, digital abnormalities, ichthyosis
J Med Genet
26:339–342, 1989
Vohwinkel’s syndrome – knuckle papules, palmoplantar
keratoderma, ichthyosis, pseudoainhum
JAAD 44:376–378, 2001
XLRI with mild mental retardation, chondrodysplasia punctata
and short stature
Clin Genet 34:31–37, 1988
Zunich
neuroectodermal syndrome
– migratory ichthyosiform
dermatosis
Ped Derm 13:363–371, 1996
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