Schneiderman Prelims Vol-I. qxd

TELANGIECTASIAS
CONGENITAL AND/OR GENETIC SYNDROMES
WITH TELANGIECTASIAS
Acrogeria (Gottron’s syndrome) – micrognathia, atrophy of tip of
nose, atrophic skin of distal extremities with telangiectasia, easy
bruising, mottled pigmentation or poikiloderma of extremities,
dystrophic nails 
BJD 103:213–223, 1980
Amyoplasia congenita disruptive sequence – mid-facial macular
telangiectatic nevi 
Am J Med Genet 15:571–590, 1983
Angiokeratoma corporis diffusum (Fabry’s disease
(
α
-galactosidase A) – X-linked recessive;
NEJM 276:1163–1167,
1967; fucosidosis (
α
1
-fucosidase) 
AD 107:754–757, 1973;
Kanzaki’s disease (
α
-
N-acetylgalactosidase) – telangiectasias on
lips, intraorally 
AD 129:460–465, 1993; aspartylglycosaminuria
(aspartylglycosaminidase) 
Paediatr Acta 36:179–189, 1991;
adult-onset GM1 gangliosidosis (beta galactosidase) 
Clin Genet
17:21–26, 1980; galactosialidosis (combined 
β
-galactosidase and
sialidase) 
AD 120:1344–1346, 1984; no enzyme deficiency –
telangiectasias or small angiokeratomas 
AD 123:1125–1127,
1987; JAAD 12:885–886, 1985
Arteriovenous fistulae – congenital; red pulsating nodules
with overlying telangiectasia – extremities, head, neck, trunk
Rook p.2237, 1998, Sixth Edition
Ataxia telangiectasia (Louis–Bar syndrome) – telangiectasias of
bulbar conjunctivae, tip of nose, ears, antecubital and popliteal
fossae, dorsal hands and feet; atrophy with mottled hypo- and
hyperpigmentation, dermatomal CALMs, photosensitivity,
canities, acanthosis nigricans, dermatitis; cutaneous
granulomas present as papules or nodules, red plaques with
atrophy or ulceration 
Rook p.2095,1998, Sixth Edition;
JAAD 10:431–438, 1984; Ann Intern Med 99:367–379, 1983
Benign familial telangiectasias
Bloom’s syndrome (congenital telangiectatic erythema and
stunted growth) – autosomal recessive; slender face, prominent
nose; facial telangiectatic erythema with involvement of eyelids,
ear, hand and forearms; bulbar conjunctival telangiectasias;
stunted growth; CALMs, clinodactyly, syndactyly, congenital
heart disease, annular pancreas, high-pitched voice, testicular
atrophy; no neurologic deficits 
Ped Derm 22:147–150, 2005;
Am J Hum Genet 21:196–227, 1969; AD 94:687–694, 1966;
Am J Dis Child 88:754–758, 1954
Circumareolar telangiectasia, congenital 
AD 126:1656, 1990