hypotrichosis, and total or partial anodontia
J Med Genet
28:181–185, 1991; autosomal recessive Ped Derm 7:242, 1990
Cardio-facio-cutaneous syndrome – xerosis/ichthyosis,
eczematous dermatitis, alopecia, growth failure, hyperkeratotic
papules, ulerythema ophryogenes, seborrheic dermatitis,
CALMs, nevi, keratosis pilaris
Ped Derm 17:231–234, 2000
Cockayne’s syndrome
AD 133:1293–1295, 1997
Crouzon’s syndrome
Down’s syndrome
Dermatology 205:234–238, 2002; Rook p.373,
1998, Sixth Edition
Ectodermal dysplasia – ankyloblepharon, absent lower
eyelashes, hypoplasia of upper lids, coloboma, seborrheic
dermatitis,
cribriform scrotal atrophy, ectropion, lacrimal duct
hypoplasia, malaligned great toenails, gastroesophageal reflux,
ear infections, laryngeal cleft, dental anomalies, scalp hair
coarse and curly, sparse eyebrows, xerosis, hypohidrosis, short
nose absent philtrum, flat upper lip
BJD 152:365–367, 2005
Goltz’s syndrome (focal dermal hypoplasia) – asymmetric linear
and reticulated streaks of atrophy and telangiectasia; yellow–red
nodules; raspberry-like papillomas of lips, perineum, acrally,
at perineum,
buccal mucosa; xerosis; scalp and pubic hair
sparse and brittle; short stature; asymmetric face; syndactyly,
polydactyly; ocular, dental, and skeletal abnormalities with
osteopathia striata of long bones
Cutis 53:309–312, 1994;
JAAD 25:879–881, 1991
Haber’s syndrome
AD 117:321–324, 1981
Hallermann–Streiff syndrome
Hereditary mucoepithelial dysplasia (dyskeratosis)
(Gap junction disease, Witkop disease) – dry rough skin; red
eyes, non-scarring alopecia, keratosis pilaris, erythema of oral
(hard palate, gingival, tongue) 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; Am J Med Genet 39:338–341, 1991; JAAD 21:351–357,
1989; Am J Hum Genet 31:414–427, 1979; Oral Surg Oral Med
Oral Pathol 46:645–657, 1978
Hidrotic ectodermal dysplasia
JAAD 27:917–921, 1992
Hutchinson–Gilford syndrome – hypohidrosis
Hypohidrotic ectodermal dysplasias (ED)
Hypohidrotic ED – X-linked
Hypohidrotic ED – autosomal recessive
Hypohidrotic ED with corkscrew hairs
JAAD 27:917–921,
1992
Rapp–Hodgkin ED
Ectrodactyly–ectodermal dysplasia–cleft lip/palate (EEC)
syndrome
Roselli–Gulienetti syndrome
Alopecia–onychodysplasia–hypohidrosis–deafness
Basan syndrome
Greither type
Xeroderma–talipes–enamel defect
Ankyloblepharon–ectrodactyly–cleft lip and palate (AEC)
syndrome
Anonychia with flexural pigmentation
Tricho-onycho-dental dysplasia
Hypohidrosis-diabetes insipidus syndrome
Hypohidrosis with neurolabyrinthitis
Hypoplastic enamel-onycholysis-hypohidrosis
(Witkop–Brearley–Gentry syndrome) – marked facial
hypohidrosis, dry
skin with keratosis pilaris, scaling and
crusting of the scalp, onycholysis and subungual
hyperkeratosis, hypoplastic enamel of teeth
Oral Surg
39:71–86, 1975
ED with cataracts and hearing defects
Ichthyosis follicularis with atrichia and photophobia (IFAP) –
collodion membrane and erythema at birth; generalized
follicular keratoses, non-scarring alopecia, keratotic papules
of elbows, knees, fingers, extensor surfaces, xerosis; punctate
keratitis
BJD 142:157–162, 2000; Am J Med Genet
85:365–368, 1999; AD 125:103–106, 1989; Dermatologica
177:341–347, 1988
Keratosis follicularis spinulosa decalvans – X-linked dominant
and autosomal dominant; alopecia, xerosis, thickened nails,
photophobia, spiny follicular papules (keratosis pilaris), scalp
pustules, palmoplantar keratoderma
Ped Derm 22:170–174,
2005
MELAS syndrome – mitochondrial encephalomyopathy with
lactic acidosis – scaly itchy diffuse erythema with xerosis
JAAD 41:469–473, 1999
Mucoepithelial dysplasia (gap junction disease) –
dry rough skin
NERDS syndrome
Dermatology 191:133–138, 1995
Pseudohypoparathyroidism – dry, scaly, hyperkeratotic puffy
skin; multiple subcutaneous osteomas, collagenoma
BJD
143:1122–1124, 2000
Schwachman’s syndrome – neutropenia, malabsorption, failure
to thrive; generalized xerosis, follicular hyperkeratosis,
widespread dermatitis, palmoplantar hyperkeratosis
Ped Derm
9:57–61, 1992; Arch Dis Child 55:531–547, 1980; J Pediatr
65:645–663, 1964
Scleroatrophic and keratotic dermatosis of limbs (scleroatrophic
syndrome of Huriez) – autosomal dominant; scleroatrophy of
hands, sclerodactyly, palmoplantar keratoderma, xerosis,
hypoplastic nails
BJD 143:1091–1096, 2000; BJD 134:512–518,
1996; Bull Soc Fr Dermatol Syphiligr 70:24–28, 1963; dry hands
and feet; 50% of patients with hypohidrosis
Ped Derm
15:207–209, 1998
Short stature,
mental retardation, facial dysmorphism, short
webbed neck, skin changes, congenital heart disease – xerosis,
dermatitis, low-set ears, umbilical hernia
Clin Dysmorphol
5:321–327, 1996
Tricho-odonto-onychodysplasia syndrome – multiple
melanocytic nevi, freckles, generalized hypotrichosis, parietal
alopecia, brittle nails, xerosis, supernumerary nipples,
palmoplantar hyperkeratosis, enamel hypoplasia, deficient
frontoparietal bone
JAAD 29:373–388, 1993; Am J Med Genet
15:67–70, 1983
Turner’s syndrome
JAAD 36:1002–1004, 1996
Xeroderma pigmentosum
TRAUMA
Excessive cleansing
Radiation
therapy
Ghatan p.267, 2002, Second Edition
Reflex sympathetic dystrophy
AD 127:1541–1544, 1991
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