Berardinelli’s (Berardinelli–Seip) syndrome (congenital
generalized lipodystrophy) – congenital total lipodystrophy;
extreme muscularity and generalized loss of body fat from
birth, acanthosis nigricans, acromegalic features, umbilical
hernia, hirsutism and clitoromegaly, severe fasting and
postprandial hyperinsulinemia, early onset diabetes mellitus,
hypertriglyceridemia
J Clin Endocrinol Metab
85:1776–1782, 2000
Berlin syndrome – fine wrinkling aroung the eyes and mouth
(similar to Christ–Siemens ectodermal dysplasia); no vellus
hairs; mottled pigmentation and leukoderma, flat saddle nose,
thick lips, stunted growth, bird-like legs, mental retardation
Dermatologica 123:227–243, 1961
Branchio-oculo-facial syndrome – linear atrophic patches of
neck, ears, eyes, mouth; hemangiomatous aplastic skin
overlying branchial or supraauricular defects
Ped Derm
12:24–27, 1995; Am J Med Genet 56:42–59, 1995
Carbohydrate-deficient glycoprotein syndrome – emaciated
appearance; lipoatrophy over buttocks; lipoatrophic streaks
extend down legs; high nasal bridge, prominent jaw, large
ears, inverted nipples, fat over suprapubic area and labia
majora, fat pads over buttocks; hypotonia
Textbook of
Neonatal Dermatology, p.432, 2001
Cardio-facio-cutaneous syndrome
Dev Med Child Neurol
35:727–732, 1993
Chromosome 16–18 defect – large scalp defects;
scalp arteriovenous malformation with underlying bony
defect
Textbook of Neonatal Dermatology, p.127, 2001
Cockayne’s syndrome (cachectic dwarfism) – autosomal
recessive; short stature, facial erythema in butterfly distribution
leading to mottled pigmentation and atrophic scars, premature
aged appearance with loss of subcutaneous fat and sunken
eyes (enophthalmos with loss of periorbital fat), lipoatrophy
of temples; canities, mental deficiency, photosensitivity,
disproportionately large hands, feet, and ears, ocular defects,
demyelination
Ped Derm 20:538–540, 2003; Textbook of
Neonatal Dermatology, p.493, 2001; J Med Genet
18:288–293, 1981
Congenital erosive and vesicular dermatosis with
reticulate scarring – thin and translucent skin
Ped Derm
15:214–218, 1998; JAAD 32:873–877, 1995
Congenital ichthyosis, follicular atrophoderma, hypotrichosis,
and hypohidrosis
Am J Med Geneet 13:186–189, 1998
Conradi–Hünermann syndrome – X-linked dominant
ichthyosis; mutation in gene encoding 8–7 sterol isomerase;
collodion baby or generalized ichthyosiform erythroderma;
Blaschko erythroderma and scaling; palmoplantar keratoderma;
follicular atrophoderma and cicatricial alopecia in adults; short
stature; asymmetric shortening of limbs; chondrodysplasia
punctata, cataracts
Eur J Dermatol 10:425–428, 2000; Hum
Genet 53:65–73, 1979
Curry Jones syndrome – streaks of atrophy with
craniosynostosis, preaxial polysyndactyly, agenesis of the
corpus callosum
Clin Dysmorphol 4:116–129, 1995
DeBarsy syndrome – autosomal recessive progeroid
syndrome; lax wrinkled skin; cloudy corneas, mental
retardation, pseudoathetoid movements, synophrys, pinched
nose, thin skin, lack of subcutaneous tissue, sparse hair
Ped
Derm 19:412–414, 2002; Eur J Pediatr 144:348–354, 1985
Delleman–Oorthuys syndrome – oculocerebrocutaneous
syndrome – membranous aplasia cutis, eyelid tag, periorbital
tags, facial tags, orbital cysts, focal punched-out skin defects
of the ala nasi, cerebral malformations, developmental
delay
Textbook of Neonatal Dermatology, p.127, 2001; Clin
Dysmorphol 7:279–283, 1998; Clin Genetics 19:191–198, 1981
Dermatopathia pigmentosa retularis – autosomal dominant,
reticulate hyperpigmentation of trunk, onychodystrophy,
alopecia, oral hyperpigmentation, punctate hyperkeratosis
of palms and soles, hypohidrosis; atrophic macules
over joints with hypertrophic scarring
Semin Cut Med Surg 16:72–80, 1997;
AD 126:935–939, 1990; Hautarzt 6:262, 1960
Diffuse and macular atrophic dermatosis – generalized
poikilodermatous prematurely aged (sun-damaged)
appearance
Clin Exp Dermatol 5:57–60, 1980
Dowling–Degos syndrome (reticulated pigmented anomaly
of the flexures) – pitted atrophic scars at corners and around
mouth, reticulated pigmentation of axillae, groin, and other
intertrigenous areas, freckles of vulva, comedo-like lesions
BJD 147:568–571, 2002; JAAD 40:462–467, 1999; Clin
Exp Dermatol 9:439–350, 1984
Dunnigan syndrome – autosomal recessive; acanthosis
nigricans, decreased subcutaneous fat, enlarged clitoris,
insulin-resistant diabetes mellitus, thickened nails, pineal
hyperplasia, premature eruption of teeth, macrodontia,
enlarged filiform and fungiform papillae of the tongue
J Med Genet 23:128–130, 1986
Dyskeratosis congenita (Zinsser–Engman–Cole syndrome) –
Xq28
J Med Genet 33:993–995, 1996; Dermatol Clin 13:33–39,
1995; BJD 105:321–325, 1981; thin or atrophic nails Ghatan
p.109, 2002, Second Edition
Ectodermal dysplasia – X-linked anhidrotic ectodermal dysplasia;
thin or atrophic nails
Ghatan p.109, 2002, Second Edition
Ehlers–Danlos syndrome – EDS I, II – atrophic fish-mouth
and cigarette paper scarring; redundant folds around eyes;
EDS II with features of cutis laxa
Rook p.2032–2038, 1998,
Sixth Edition; type VII – lax facial skin giving chubby
appearance
J Med Genet 24:698–701, 1987
Ellis van Creveld syndrome – thin or atrophic nails
Ghatan
p.109, 2002, Second Edition
Exostoses with anetoderma and brachydactyly
Familial anetoderma
JAAD 16:341–345, 1987
Familial mandibuloacral dysplasia (craniomandibular
dermatodysostosis) – atrophy of skin over hands and feet
with club shaped terminal phalanges and acro-osteolysis,
mandibular dysplasia, delayed cranial suture closure, short
stature, prominent eyes and sharp nose
BJD 105:719–723,
1981; Birth Defects x:99–105, 1974
Familial partial lipodystrophy (Kobberling–Dunning syndrome,
Dunnigan variety) – extreme muscularity and lack of
subcutaneous fat in all extremities with onset at puberty;
normal at birth; excess adipose tissue of face and neck,
acanthosis nigricans, post-prandial hyperinsulinemia, diabetes
mellitus after age 20, hypertriglyceridemia and pancreatitis
J Clin Endocrinol Metab 85:1776–1782, 2000
Finlay–Marks syndrome (scalp–ear–nipple syndrome) – nipple
or breast hypoplasia or aplasia, aplasia cutis congenita of scalp,
abnormal ears and teeth, nail dystrophy, syndactyly, reduced
apocrine secretion
Bolognia p.924, 2003
Focal facial dermal dysplasia; bitemporal atrophy with scar-like
atrophic macules on one or both temples (Brauer’s syndrome)
JAAD 25:389–391, 1991; JAAD 18:1203–1207, 1988
Flynn–Aird syndrome – atrophy of shins and dorsae of feet,
ulceration, alopecia, dental caries
J Neurol Sci 2:161–182, 1965
Focal dermal hypoplasia, morning glory anomaly, and
polymicrogyria – swirling pattern of hypopigmentation,
papular hypopigmented and herniated skin lesions of face,
head, hands, and feet, basaloid follicular hamartomas, mild
mental retardation, macrocephaly, microphthalmia, unilateral
morning glory optic disc anomaly, palmar and lip pits, and
polysyndactyly
Am J Med Genet 124A:202–208, 2004
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