Follicular atrophoderma
Bazex–Dupre–Christol syndrome, X-linked dominant
AD
130:337–342, 1994
Conradi–Hünermann syndrome
JAAD 21:248–256, 1989,
Ped Derm 15:299–303, 1998; Hum Genet 53:65–73, 1979
Happle syndrome – X-linked dominant chondrodysplasia
puntata – streaks
Ped Derm 13:1–4, 1996
Rasmussen’s syndrome
AD 111:610–614, 1975
Rombo syndrome
4p (
−
) syndrome – aplasia cutis, mental retardation, deafness,
seizures, ocular abnormalities
Textbook of Neonatal
Dermatology, p.127, 2001
Fragile X syndrome – fine skin, hyperextensible joints, flat feet
Lancet 338:289–292, 1991
Geroderma osteodysplastica – jowly sad face, drooping eyelids
Ped Derm 16:113–117, 1999
Goldenhar syndrome (oculo–auriculo–vertebral syndrome) –
facial hemiatrophy
Syndromes of the Head and Neck, p.641–649,
1990; aplasia cutis congenita JAAD 50:S11–13, 2004
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
JAAD 25:879–881, 1991
Goltz’s syndrome (focal dermal hypoplasia); also thin or
atrophic nails
Ghatan p.109, 2002, Second Edition
Granddad syndrome –
Am J Hum Gen 45 (suppl) A53, 1989
Haber’s syndrome – rosacea-like acneform eruption with
erythema, telangiectasia, prominent follicles, comedones,
small papules, atrophic pitted scars; with keratotic plaques
of the trunk and extremities
AD 103:452–455, 1971; BJD
77:1–8, 1965
Haim-Munk syndrome – autosomal recessive; mutation in
cathepsin C gene (like Papillon-Lefevre syndrome); atrophic
nails, palmoplantar keratoderma, scaly red patches on elbows,
knees, forearms, shins, gingivitis with destruction of
periodontium, onychogryphosis, arachnodactyly, recurrent
pyogenic infections
BJD 152:353–356, 2005
Hallermann–Streiff syndrome – central facial atrophy
and telangiectasia
Ped Derm 13:255–257, 1996; atrophic
alopecia
Clin Exp Dermatol 14:250–252, 1989
Happle syndrome (X-linked dominant chondrodysplasia
punctata) – scalp dermatitis at birth; Blaschko hyperkeratoses,
follicular atrophoderma, cicatricial alopecia
Ped Derm
18:442–444, 2001
Hereditary acrokeratotic poikiloderma
Hereditary focal transgressive palmoplantar keratoderma –
autosomal recessive; hyperkeratotic lichenoid papules of elbows
and knees, psoriasiform lesions of scalp and groin, spotty and
reticulate hyperpigmentation of face, trunk, and extremities,
alopecia of eyebrows and eyelashes
BJD 146:490–494, 2002
Hereditary gelsolin amyloidosis (AGel amyloidosis) – cutis laxa
with generalized cutaneous atrophy, Corneal lattice dystrophy,
cranial and peripheral polyneuropathy
BJD 152:250–257, 2000
Hereditary perioral pigmented follicular atrophoderma associated
with milia and epidermoid cysts
BJD 139:713–718, 1998
Hereditary sclerosing poikiloderma
Hutchinson–Gilford syndrome (progeria) – loss of subcutaneous
tissue, hyper and hypomelanosis, alopecia, mid-facial cyanosis
around mouth and nasolabial folds, decreased sweating,
sclerodermoid changes, cobblestoning of soft pebbly nodules
Am J Med Genet 82:242–248, 1999
Hypertrichosis, pigmentary retinopathy, and facial
anomalies – lipoatrophy of buttocks
Am J Med Genet
62:386–390, 1996
Hypohidrotic ectodermal dysplasia – facial wrinkling
Ichthyosis, follicular atrophoderma, eyebrow hypotrichosis,
woolly hair
BJD 147:604–606, 2002; Am J Med Genet
75:186–189, 1998
Incontinentia pigmenti – pale atrophic hairless patches in
stage 4
AD 139:1163–1170, 2003; JAAD 47:169–187, 2002;
atrophic vermiculate scarring of legs
Atlantic Derm Society
Meeting, 2000; Dermatol 191 (2):161–163, 1995; thin or
atrophic nails
Ghatan p.109, 2002, Second Edition
Johanson–Blizzard syndrome – small stellate defects of
frontal scalp and membranous aplasia cutis, dwarfism,
mental retardation, deafness, hypothyroidism, pancreatic
insufficiency, midline skin dimples or defects
Textbook of
Neonatal Dermatology, p.127, 2001; J Med Genet
19:302–303, 1981
Juvenile hyaline fibromatosis (Murray–Puretic–Drescher
syndrome) – autosomal recessive; gingival fibromatosis,
multiple subcutaneous tumors, sclerodermiform atrophy,
osteolytic skeletal lesions, recurrent suppurative infections,
flexural joint contractures, stunted growth, early death
Ped
Derm 18:400–402, 2001
Kindler syndrome – diffuse atrophy or cigarette paper atrophy of
hands; atrophied gingival; atrophic nail plates
AD 140:939–944,
2004; BJD 144:1284–1286, 2001; JAAD 46:447–450, 2001; Ped
Derm 6:91–101, 1989, AD 133:1111–1117, 1997
Klippel–Trenaunay–Weber syndrome – atrophy of limb; venous
malformation, arteriovenous fistula, or mixed venous lymphatic
malformation
Br J Surg 72:232–236, 1985; Arch Gen Med
3:641–672, 1900
Koraxitrachitic syndrome – self-healing collodion baby with
residual dappled atrophy
Am J Med Genet 86:454–458, 1999
Lawrence–Seip syndrome (acquired total lipodystrophy –
extreme muscularity and generalized lack of fat during
childhood or later, loss of fat from palms and soles, severe
fasting or post-prandial hyperinsulinemia, lipoatrophic diabetes,
hypertriglyceridemia, panniculitis at onset of lipodystrophy, other
autoimmune diseases, insulin resistance
J Clin Endocrinol
Metab 85:1776–1782, 2000; AD 91:326–334, 1965
Lenz–Majewski syndrome – loose, wrinkled atrophic skin of
hands with short digits and partial syndactyly
Radiology
149:129–131, 1983
Leprechaunism (Donohue’s syndrome) – decreased
subcutaneous tissue and muscle mass (lipoatrophy),
characteristic facies, severe intrauterine growth retardation,
broad nose, low-set ears, hypertrichosis of forehead and
cheeks, loose folded skin at flexures, gyrate folds of skin of
hands and feet; breasts, penis, clitoris hypertrophic
Endocrinologie 26:205–209, 1988
Lipoid proteinosis – pock-like annular scars
Ped Derm
19:359–362, 2002; Ped Derm 18:21–26, 2001; weathered
appearance of face
Rook p.2641, 1998, Sixth Edition; Acta
Paediatr 85:1003–1005, 1996; JAAD 27:293–297, 1992
Macrostomia, ectropion, atrophic skin, hypertrichosis and
growth retardation
Mandibuloacral dysplasia – acral poikiloderma over hands and
feet, subcutaneous atrophy
Am J Med Genet 95:293–295, 2000;
Clin Genet 26:133–138, 1984
Marfan’s syndrome – striae atrophicae
Rook p.2030–2031,
1998, Sixth Edition
Marshall’s syndrome – Sweet’s syndrome followed by acquired
cutis laxa
AD 131:1175–1177, 1995
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