craniofacial abnormalities, hyperextensible fingers, sparse curly
hair, perianal and vulvar papules, diffuse hyperpigmentation,
multiple nevi
Ped Derm 20:447–450, 2003; JAAD 32:904–907,
1995; Aust Paediat J 13:114–118, 1977
Craniodysostosis with extremity bands
Craniofacial dysostosis and patent ductus arteriosus – severe
hypertrichosis of extremities and back, multiple defects of eyes
and teeth, ocular and cardiac defects, hypoplasia of labia
majora
J Paediatr 56:778–785, 1960
CRIE syndrome – congenital reticulated ichthyosiform
erythroderma
Dermatology 188:40–45, 1994
Cytochrome C oxidase-deficient Leigh syndrome
Mol Genet
Metab 73:34–343, 2001
Depigmented hypertrichosis with dilated follicular pores, short
stature, scoliosis, short broad feet, macrocephaly, dysmorphic
facies, supernumery nipple, and mental retardation (cerebral-
ocular malformations)
BJD 142:1204–1207, 2000
Dermatospiraxis (Ehlers–Danlos type VII-C) – facial vellus hairs –
autosomal recessive; lack of Type 1 procollagen N-proteinase;
irregular circular collagen fibres on electron microscopy;
premature rupture of membranes; extreme skin fragility and
laxity; vellus hairs, micrognathia with increased jowls and
prominent puffy eyelids, shortened extremities, prominent
visible vasculature, ecchymoses, excessive skin folds, blue
sclerae, umbilical hernia, hyperconvex nails, delayed closure
of fontanelles
AD 129:1310–1315, 1993
Dup (3q) syndrome
Acta Paediatr Scand 73:281–284, 1984
Fetal alcohol syndrome – hypertrichosis, small face, capillary
hemangiomas, physical and mental retardation
JAAD
48:161–179, 2003; JAAD 46:161–183, 2002; JAMA
235:1458–1460, 1976
Fetal hydantoin syndrome – hypertrichosis, broad depressed
nasal bridge, large lips, wide mouth, short webbed neck, short
stature, hypoplastic distal phalanges
JAAD 48:161–179, 2003;
JAAD 46:161–183, 2002
Gingival fibromatosis-hypertrichosis syndrome
(Byars–Jurkiewicz syndrome) hypertrichosis of face, trunk,
and eyebrows, mental retardation and seizures (resembles
diphenylhydantoin syndrome) fibroadenomas of breast
AD 137:877–884, 2001; J Oral Maxillofacial Surg 46:415–420,
1988; J Pediatr 67:499–502, 1965
Gingival fibromatosis–hypertrichosis syndrome
Goltz’s syndrome
AD 137:1095–1100, 2001
Gorlin–Chaudhry–Moss syndrome – short and stocky with
craniosynostosis, midface hypoplasia, hypertrichosis of the
scalp, arms, legs, and back, anomalies of the eyes, digits, teeth,
and heart, and genitalia hypoplasia
Am J Med Genet
44:518–522, 1992
Hammerschlag–Telfer syndrome
Bolognia p.1053, 2003
Hemihyperplasia
Syndromes of the Head and Neck p.329, 1990
Hyperostotic internal craniopathy (Morgani’s syndrome)
Ghatan
p.69, 2002, Second Edition
Hypertrichosis, coarse face, brachydactyly, obesity, mental
retardation, broad proximal phalanges
Clin Dysmorphol
5:223–229, 1996
Hypertrichosis osteochondrodysplasia
Hum Genet 60:36–41, 1982
Hypertrichosis, pigmentary retinopathy, and facial anomalies
Am J Med Genet 62:386–390, 1996
Hypomelanosis of Ito
Insulin-resistant diabetes mellitus with acanthosis nigricans and
hypertension – autosomal recessive; severe hyperinsulinemia,
amenorrhea, hirsutism; mutation in muscle-specific regulatory
subunit of protein phosphatase 1 (PPAR-gamma and PP1R3A)
BJD 147:1096–1011, 2002
Julia Pastrana syndrome – congenital generalized
hypertrichosis terminali – facial deformities and gingival
hyperplasia
Am J Med Genet 47:198–212, 1993
Krabbe’s disease (globoid leukodystrophy)
AD 111:230–236, 1975
Laband syndrome (Zimmermann–Laband syndrome) – aplasia
or dysplasia of fingernails, hypertrophy of nasal tip and ears,
hypermobility, limb asymmetry
Am J Med Genet 31:691–695, 1988
Lawrence–Seip syndrome (congenital generalized
lipodystrophy) – lipoatrophic diabetes – generalized
hypertrichosis with luxuriant scalp hair
AD 91:326–334, 1965
Leprechaunism (Donohue syndrome) – extensive
hypertrichosis, thick lips, redundant skin, physical and mental
retardation
Acta Paediatr 83:18, 1994; AD 117:531–535, 1981
Macrostomia, ectropion, atrophic skin, hypertrichosis, and
growth retardation
Marshall–Smith syndrome
Am J Med Genet 20:559–562, 1985
MELAS syndrome – mitochondrial encephalopathy
with lactic acidosis and strokelike episodes
JAAD 41:469–473, 1999
Melnick–Needles syndrome
J Pediatr Orthoped 3:387–391, 1983
Michelin tire baby syndrome – smooth muscle hamartomas or
increase in fat
JAAD 28:364–370, 1992; Ped Derm 6:329–331,
1989
Mitochondrial respiratory chain disorders
Bolognia, p.873, 2003;
Pediatrics 103:428–433, 1999
Morquio’s syndrome – mucopolysaccharidosis with
bone changes, hypertrichosis and corneal opacities
Rook p.2624–2625, 1998, Sixth Edition
Mucolipidoses (pseudo-Hurler polydystrophy)
BJD 130:528–533, 1994
Mucopolysaccharidoses (Hurler’s, Hurler-Schei, Sanfilippo,
Morquio, Maroteaux–Lamy, Sly syndromes) – coarse facies;
Hunter’s syndrome
NEJM 284:221–222, 1971; Hurler’s
syndrome – face, trunk, and extremities; bushy eyebrows with
synophrys
Rook p.2624–2625, 2892–2893, 1998, Sixth Edition;
NEJM 284:221–222, 1971; Schei syndrome Syndromes of the
Head and Neck, p.104–105, 1990
Noonan’s syndrome
Am J Dis Child 116:359–366, 1968
Osteochondrodysplasia with hypertrichosis
Hum Genet
60:36–41, 1982
Parana hard skin syndrome (congenital fascial dystrophy –
hirsutism, stiff skin, knuckle pad-like thickening of fingers,
limited joint mobility, localized areas of stony hard skin of
buttocks and legs
Ped Derm 20:339–341, 2003; Ped Derm
19:67–72, 2002; JAAD 21:943–950, 1989; Ped Derm 3:48–53,
1985; Ped Derm 2:87–97, 1984
Patterson–David syndrome – redundant skin, hypertrichosis
Birth Defects 5:117–121, 1969
POEMS syndrome (Crow–Fukase syndrome) – polyneuropathy,
organomegaly, endocrinopathies, M-spike, skin changes
including hyperpigmentation, sclerodermatous thickening,
hirsutism, hypertrichosis, angiomas
JAAD 40:507–535,
1999; JAAD 40:808–812, 1999; Cutis 61:329–334, 1998;
AD 124:695–698, 1988
Rabson–Mendenhall syndrome (pineal hyperplasia syndrome –
autosomal recessive, pineal hyperplasia, insulin-resistant diabetes
mellitus, unusual coarse facies, dental precocity, hypertrichosis,
acanthosis nigricans, and premature sexual development
Ramon syndrome – cherubism, gingival fibromatosis, epilepsy,
cherubism, mental and somatic retardation, hypertrichosis,
and stunted growth
Develop Med Child Neurol 31:538–542,
1989; Am J Med Genet 25:433–442, 1986
Rubinstein–Taybi syndrome (broad thumb – hallux syndrome) –
hypertrichosis of trunk, limbs, and face
Ped Derm 11:21–25, 1994
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