mutation in gene encoding 3
β
-hydroxysteroid-
δ
8,
δ
7-isomerase
Nat Genet 22:291–294, 1999; Happle syndrome – X-linked
dominant; erythrodermic ichthyosis at birth with streaky
hyperkeratosis, patchy cicatricial alopecia, cataracts,
generalized follicular atrophoderma, asymmetric shortening
of legs
Ped Derm 18:442–444, 2001
CRIE syndrome – congenital reticulated ichthyosiform
erythroderma
Dermatology 188:40–45, 1994
Dermotrichic syndrome – X-linked recessive, congenital atrichia,
ichthyosis, hypohidrosis
Am J Med Genet 44:233–236, 1992
Dorfman–Chanarin syndrome – non-bullous congenital
ichthyosiform erythroderma and neutral lipid storage
disease; autosomal recessive
AD 141:798–800, 2005;
Am J Dermatopathol 20:79–85, 1998
Down’s syndrome
Rook p.2812, 1998, Sixth Edition
Dubowitz syndrome
Ped Derm 12:130–133, 1995
Ectodermal dysplasia/skin fragility syndrome – autosomal
recessive; skin fragility, keratotic plaques on limbs, palmoplantar
keratoderma
Curr Prob Derm 14:71–116, 2002
Ellis–van Creveld syndrome (chondroplastic dwarf with
defective teeth and nails, and polydactyly) – autosomal
recessive; chondrodysplasia, polydactyly, peg-shaped teeth or
hypodontia, short upper lip bound down by multiple frenulae;
nail dystrophy, hair may be normal or sparse and brittle; cardiac
defects; ichthyosis, palmoplantar keratoderma
Ped Derm
18:485–489, 2001; J Med Genet 17:349–356, 1980; Arch Dis
Child 15:65–84, 1940
Familial peeling skin syndrome – autosomal recessive;
superficial peeling
Curr Prob Derm 14:71–116, 2002
Fanconi syndrome, ichthyosis, dysmorphism, jaundice, and
diarrhea
Pediatr Nephrol 4:308–313, 1990
Giroux–Barbeau type – autosomal dominant; scaling plaques
with progressive neurologic symptoms
Haber’s syndrome
AD 117:321–324, 1981; JAAD 40:862–865,
1999
Hallermann–Streiff syndrome
Harlequin fetus
Textbook of Neonatal Dermatology, p.278, 2001
HID syndrome (hystrix-like ichthyosis with deafness) –
autosomal dominant; shark-skin appearance, sensorineural
deafness, generalized spiky and cobblestoned hyperkeratosis,
neonatal erythroderma, scarring alopecia, occasional
punctate keratitis; probably variant of KID syndrome with
mutation of connexin 26 (gap junction protein)
BJD
146:938–942, 2002
Ichthyosiform erythroderma and cardiomyopathy
BJD
139:1055–1059, 1998
Ichthyosiform erythroderma and defective chemotaxis
J Pediatr
87:908–911, 1975; AD 106:755–756, 1972; elevated IgE
J Pediatr 87:908–911, 1975; IgM and IgG deficiencies
Dermatol Monatschr 157:525–531, 1971
Ichthyosis, abnormal platelet function, asplenism, migraine,
dyslexia
Clin Genet 28:367–374, 1985
Ichthyosis congenita
BJD 136:377–379, 1997
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; AD 125:103–106, 1989; Ped Derm
12:195, 1995; Dermatologica 177:341–347, 1988;
Am J Med Genet 85:365–368, 1999
Ichthyosis–cheek–eyebrow syndrome – ICE syndrome –
ichthyosis vulgaris, fullness of cheeks, thinning of eyebrows;
dysmorphic features, skeletal anomalies
Clin Genet
31:137–142, 1987
Ichthyosis, follicular atrophoderma, eyebrow hypotrichosis,
woolly hair
BJD 147:604–606, 2002; Am J Med Genet
75:186–189, 1998
Ichthyosis, mental retardation, asymptomatic spasticity
AD 126:1485–1490, 1990
Ichthyosis with neurologic and eye abnormalities
AD 121:1149–1156, 1985
Keratosis–ichthyosis–deafness (KID) syndrome – reticulated
severe diffuse hyperkeratosis of palms and soles, well
marginated, serpiginous erythematous verrucous plaques,
perioral furrows, leukoplakia, sensory deafness, photophobia
with vascularizing keratitis, blindness
JAAD 23:385–388,
1990; AD 123:777–782, 1987; AD 117:285–289, 1981
Netherton’s syndrome
Refsum’s disease – autosomal recessive, childhood onset,
deficiency of
α
-phytanic acid hydroxylase, resembles
ichthyosis vulgaris, cataracts, night blindness, polyneuritis,
retinitis pigmentosa, ataxia
AD 123:85–87, 1987
Sjögren–Larsson syndrome – autosomal recessive, lamellar
ichthyosis, mental deficiency, macular degeneration of the
retina, spastic paralysis, fatty alcohol oxidoreductase
deficiency
Curr Prob Derm 14:71–116, 2002
Trichothiodystrophy (Tay’s syndrome) – BIDS – brittle hair,
intellectual impairment,decreased fertility, short stature
Kallmann’s syndrome – association of X-linked recessive
ichthyosis with hypogonadotrophic hypogonadism, anosmia,
nystagmus, synkinesis (mirror movements of hands and feet)
Int J Impot Res 12:269–271, 2000; J Pediatr Endocrinol Metab
11:631–638, 1998; Am J Ment Def 48:203–236, 1944
Keratosis–ichthyosis–deafness (KID) syndrome – autosomal
dominant/sporadic; reticulated severe diffuse hyperkeratosis
of palms and soles, well marginated, serpiginous erythematous
verrucous plaques, perioral furrows, leukoplakia, sensory
deafness, photophobia with vascularizing keratitis, blindness
Ped Derm 13:105–113, 1996; BJD 122:689–697, 1990;
JAAD 23:385–388, 1990; AD 123:777–782, 1987;
AD 117:285–289, 1981
Keratosis linearis with ichythyosis congenita and sclerosing
keratoderma – autosomal recessive
Acta DV 77:225–227, 1997
Koraxitrachitic syndrome – self-healing collodion baby with
residual dappled atrophy
Am J Hum Genet 29:454–458, 1999
MAUIE syndrome – micropinnae, alopecia universalis,
congenital ichthyosis, ectropion
JAAD 37:1000–1002, 1997;
JAAD 33:884–886, 1995
MELAS syndrome – mitochondrial encephalomyopathy
with lactic acidosis – ichthyosiform diffuse erythema
JAAD 41:469–473, 1999
Miller syndrome – defective neutrophil chemotaxis
Naegeli–Franceschetti–Jadassohn syndrome
JAAD 28:942–950, 1993
Netherton’s syndrome – autosomal recessive; erythroderma in
infancy; ichthyosis linearis circumflexa; trichorrhexis nodosa
Curr Prob Derm 14:71–116, 2002; Ped Derm 13:183–199, 1996
Neu–Laxova syndrome – variable presentation; mild scaling to
harlequin ichthyosis appearance; ichythosiform scaling,
increased subcutaneous fat and atrophic musculature,
generalized edema and mildly edematous feet and hands,
absent nails; microcephaly, intrauterine growth retardation, limb
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