Schneiderman Prelims Vol-I. qxd

SYNDROMES
Acropigmentation symmetrica of Dohi – autosomal dominant,
sporadic; Asians with onset under 20 years of age; acral
hyperpigmentation (reticulate pattern becoming patches with
hypopigmented macules of face, trunk, distal extremities
JAAD 43:113, 2000
Adams–Oliver syndrome – 10% cutis marmorata telangiectatica
congenita 
Dermatology 187:205–208, 1993
Ataxia telangiectasia
Bockenheimer’s syndrome – diffuse genuine phlebectasia
Cantu’s syndrome – autosomal dominant, onset in early
adolescence with 1 mm brown macules which become confluent
over face, feet, forearms; hyperkeratotic papules of palms and
soles 
Clin Genet 14:165, 1978
Cobb’s syndrome
Coffin–Lowry syndrome – X-linked inheritance; straight coarse
hair, prominent forehead, prominent supraorbital ridges,
hypertelorism, large nose with broad base, thick lips with mouth
held open, large hands, tapering fingers, severe mental
retardation; loose skin easily stretched, cutis marmorata,
dependent acrocyanosis, varicose veins 
Clin Genet
34:230–245, 1988; Am J Dis Child 112:205–213, 1966
Congenital reticular ichthyosiform erythroderma (ichthyosis
variegata) 
BJD 139:893–896, 1998; ichthyosis ‘en confettis
Dermatology 188:40–45, 1994 
Cornelia de Lange syndrome – cutis marmorata, short stature,
specific facies, hypertrichosis of forehead, face, back,
shoulders, and extremities, synophrys; long delicate eyelashes,
skin around eyes and nose with bluish tinge 
Rook p.428, 1998,
Sixth Edition; JAAD 37:295–297, 1997
CRIE syndrome – congenital reticulated ichthyosiform
erythroderma (ichthyosis variegata) 
BJD 139:893–896, 1998;
Dermatology 188:40–45, 1994
Dermatopathia pigmentosa reticularis (dermatopathia
pigmentosa reticularis hyperkeratosis et mutilans) – autosomal
dominant; reticulate pigmentation, alopecia, nail changes,
palmoplantar hyperkeratosis (punctate palmoplantar
keratoderma), loss of dermatoglyphics; infantile bullae, reticular
hyperpigmentation of flexures, ainhum-like contraction,
periodontopathy 
JAAD 26:298–301, 1992;AD 126:935–939,
1990
Divry–Van Bogaert syndrome – autosomal recessive; congenital
livedo reticularis; diffuse leptomeningeal angiomatosis 
Rook
p.584, 1998, Sixth Edition; J Neurol Sci 14:301–314, 1971
Dyschromatosis universalis hereditaria 
Ped Derm 17:70–72,
2000
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
Extensive reticular hyperpigmentation and milia 
Ped Derm
16:108–110, 1999
Familial multiple follicular hamartoma
JAAD 37:884–886, 1997;
Dermatologica 159:316–324, 1979
Familial pigmentary anomaly
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
Haber’s syndrome – reticulate keratotic plaques on trunk and
limbs; rosacea-like eruption of face 
BJD 77:1–8, 1965
Hereditary angioneurotic edema – reticulate erythema in
prodromal stage 
Rook p.2135–2136, 1998, Sixth Edition; BJD
101:549–552, 1979
Hereditary sclerosing poikiloderma
AD 100:413–422, 1969