Dwarfism–alopecia–pseudoanodontia–cutis laxa – autosomal
recessive; generalized atrichia, unerupted teeth, hyperconvex
nails, cutis laxa with fragile skin, dwarfism, deafness, eye
anomalies
Cien Cult 34 (Suppl):705, 1982
Dyskeratosis congenita (Zinsser–Engman–Cole syndrome) –
Xq28; hair sparse and dry
Rook p.415, 1998, Sixth Edition;
J Med Genet 33:993–995, 1996; Dermatol Clin 13:33–39, 1995;
BJD 105:321–325, 1981
Ectodermal dysplasia with corkscrew hair – light lusterless,
corkscrew hair with alopecia
Ped Derm 19:226, 2002
Ectodermal dysplasia with pili torti and syndactyly – sparse hair,
eyebrows and lashes, severe dental dysplasia, yellow thickened
nails, lordosis, high arched
palate and syndactyly
Ped Derm
16:220–221, 1999
Ectodermal dysplasia with sparse hair, short stature,
hypoplastic thumbs, single upper incisor and abnormal
skin pigmentation
Am J Clin Genet 29:209–216, 1988
Ectrodactyly, ectoderma dysplasia, cleft lip and palate
syndrome (EEC syndrome) – fine, dry, wiry hypopigmented
sparse hair, scarring alopecia, peg-shaped teeth, mental
retardation
Ped Derm 20:113–118, 2003; Clin Dysmorphol
5:115–127, 1996; Clin Genet 9:35–40, 1976
Ehlers–Danlos syndrome
Encephalocraniocutaneous lipomatosis – alopecia, scalp
nodules, skin-colored nodules, facial and eyelid papules –
lipomas and lipofibromas; unilateral or bilateral skin-colored or
yellow domed papules or nodules of scalp (hairless plaque),
head
and neck; ipsilateral cranial and facial asymmetry, cranial
and ocular abnormalities, spasticity, mental retardation
JAAD
37:102–104, 1998; JAAD 32:387–389, 1995; Ped Derm
10:164–168, 1993; Arch Neurol 22:144–155, 1970
Eosinophilic cellulitis (Wells’ syndrome)
Exudative retinopathy with bone marrow failure (Revesz
syndrome) – intrauterine
growth retardation, reticulate
hyperpigmentation of trunk, palms, and soles; fine sparse
hair, ataxia with cerebellar hypoplasia, hypertonia, progressive
psychomotor retardation
J Med Genet 29:673–675, 1992
Eyelid cysts, hypodontia and hypotrichosis
JAAD 10:922–925, 1984
Facial hemiatrophy
Familial
acne conglobata, hidradenitis suppurativa, pili torti and
cataracts
Familial focal alopecia
Familial mandibuloacral dysplasia (craniomandibular
dermatodysostosis) – onset at age 3–5 years; atrophy of skin
over hands and feet with club shaped terminal phalanges and
acro-osteolysis, mandibular dysplasia, delayed cranial suture
closure, short stature, dysplastic clavicles, prominent eyes and
sharp nose, alopecia, sharp nose, loss of lower teeth, multiple
Wormian bones, acro-osteolysis
Ped Derm 22:75–78, 2005;
BJD 105:719–723, 1981; Birth Defects 10:99–105, 1974
Familial partial lipodystrophy, mandibuloacral dysplasia
variety –
autosomal recessive; short stature, high-pitched
voice, mandibular and clavicular hypoplasia, dental anomalies,
acro-osteolysis, stiff doints, cutaneous atrophy, alopecia, nail
dysplasia
Am J Med 108:143–152, 2000
Fatal infantile diarrhea with abnormal hair
Fibrodysplasia ossificans progressiva – diffuse thinning of hair
Flynn–Aird syndrome – skin atrophy, ulceration, alopecia and
dental caries
J Neurol Sci 2:161–182, 1965
Follicular atrophoderma
Fried’s tooth and nail syndrome – fine, short hair, few peg-shaped
teeth, nails dystrophic
J Med Genet 14:137–139, 1977
GAPO syndrome – growth retardation, alopecia,
pseudoanodontia and optic atrophy
Ped Derm 19:226, 2002;
Am J Med Genet 19:209–216, 1984; Syndr Ident 8:14–16, 1982
Genee–Wiedemann syndrome – acrofacial dysostosis of the
predominantly post-axial type – sparse eyelashes
Hereditary gelsolin amyloidosis(AGel amyloidosis) – cutis laxa,
thin scalp hair with frontotemporal baldness, corneal lattice
dystrophy, cranial and peripheral polyneuropathy
BJD
152:250–257, 2005
Giant axonal neuropathy with kinky light hair
Glucagonoma syndrome (NS)
Goltz’s syndrome (focal dermal hypoplasia) (S) – linear alopecia
Cutis 53:309–312, 1994; J Dermatol 21:122–124, 1994;
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
JAAD 25:879–881, 1991
Gomez–Lopez–Hernandez (cerebello-trigeminal-dermal
dysplasia) syndrome – parietal alopecia
Am J Med Genet
72:34–39, 1997; Brain Dev 1:253–256, 1979
Greither-type ectodermal dysplasia – almost total alopecia,
loss of teeth, corneal and lens opacities, dystrophic nails,
transgradiens palmoplantar keratoderma
Arch Klin Exp
Dermatol 216:50–62, 1963
HAIR-AN syndrome – acne, muscular physique, alopecia
(hyperandrogenism), hidradenitis suppurativa, insulin
resistance, acanthosis nigricans
AD 133:431–433, 1997
Hallermann–Streiff–François syndrome (mandibulo-oculofacial
syndrome) – scalp margin or sutural alopecia; beak-like nose;
atrophy over nose and cranial sutures; central
facial atrophy and
telangiectasia
JAAD 50:644, 2004; Ped Derm 13:255–257,
1996; atrophic alopecia Clin Exp Dermatol 14:250–252, 1989
Happle’s syndrome – cicatricial alopecia – X-linked dominant
erythrodermic ichthyosis at birth, cataracts, generalized
follicular atrophoderma, asymmetric shortening of limbs with
chondrodysplasia punctata
Ped Derm 18:442–444, 2001;
Ped Derm 13:1–4, 1996
Hartnup’s disease
Hereditary hypotrichosis simplex – hair that won’t grow long
JAAD 53:S130–134, 2005
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 (Clouston syndrome) – scalp hair
sparse, fine, pale and brittle or absent; outer two-thirds of
eyebrows; thin eyelashes
Ped Derm 19:226, 2002; Rook p.394,
1998, Sixth Edition; Can Med Assoc J 21:18–31, 1929
Hutchinson–Gilford syndrome (progeria) – sparse downy scalp
hair with eventual generalized alopecia; scleroderma-like skin
changes, wrinkled atrophic skin, hyperpigmentation, abnormal
facies
Ped Derm 19:226, 2002; Am J Med Genet 82:242–248,
1999; AD 125:540–544, 1989; J Pediatr 80:697–724, 1972
Hypodontia and nail dysgenesis – autosomal dominant; fine
brittle hair, few conical and widely spaced teeth, small
dystrophic nails, lips everted
Oral Surg Oral Med Oral Pathol
39:409–423, 1975
Hypodontia, taurodontism,
sparse hair
Oral Surg 33:841–845, 1972
Hypogonadism, diabetes mellitus, alopecia, mental retardation
and ECG abnormalities
Hypohidrosis and diabetes insipidus (Fleck syndrome) –
hypohidrosis, hypotrichosis, diabetes insipidus, syndactyly,
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