Schneiderman Prelims Vol-I. qxd

126
A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1
Schneiderman page 100-200.qxd 5/16/2006 6:49 PM Page 126

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Kabuki makeup syndrome – short stature, distinct face (long
palpebral fissures, eversion of the lower eyelids, sparse arched
lateral eyebrows, prominent malformed ears), cutis laxa,
hyperextensible joints, syndactyly, fetal finger pads with
abnormal dermatoglyphics, mental retardation 
JAAD
S247–251, 2005; Am J Med Genet 94:170–173, 2000;
Am J Med Genet 31:565–589, 1988; J Pediatr 105:849–850,
1984; J Pediatr 99:565–569, 1981
Lenz–Majewski hyperostotic syndrome – cutis laxa, skeletal
anomalies and ambiguous genitalia
Leprechaunism (Donohue syndrome) – cutis laxa-like wrinkling
Am J Dis Child 122:442–445, 1971
Marfan’s syndrome – lax skin in the neonate
Marshall’s syndrome – Sweet’s syndrome followed by cutis
laxa 
AD 131:1175–1177, 1995; following Sweet’s syndrome
(
α
1
-antitrypsin deficiency) 
Ped Derm 14:370, 1994
Menkes’ kinky hair syndrome – loose skin 
Ped Derm
14:347–350, 1997; silvery hair, generalized hypopigmentation,
lax skin of brows, neck and thighs 
Ped Derm 15:137–139, 1998
Michelin tire baby syndrome
Neurofibromatosis
Noonan’s syndrome – lax skin 
JAAD 46:161–183, 2002; Curr
Prob Derm VII:143–198, 1995; J Pediatr 66:48–63, 1965
Occipital horn syndrome 
Clin Dysmorphol 8:179–183, 1999
Patterson–David syndrome – pseudoleprechaunism
Premature aging with short stature and pigmented nevi
(Baraitser syndrome) 
Progeria 
AD 125:540–544, 1989
Prune belly syndrome (aplastic abdominal musculature
syndrome) 
SCARF syndrome – ambiguous genitalia associated with
skeletal abnormalities, cutis laxa, joint hyperextensibility,
webbed neck, craniostenosis, psychomotor retardation, and
facial abnormalities 
Am J Med Genet 34:305–312, 1989
Soto’s syndrome – joint hyperextensibility; cutis laxa; cerebral
gigantism 
J Med Genet 36:51–56, 1999
Sweet’s syndrome – healed 
AD 119:998–1002, 1983
Thrombocytopenia–absent radius syndrome (TAR syndrome) –
cutis laxa of the neck; congenital thrombocytopenia, bilateral
absent or hypoplastic radii, port wine stain of head and neck
AD 126:1520–1521, 1990; Am J Pediatr Hematol Oncol
10:51–64, 1988
Tricho-rhino-phalangeal syndrome type II (Langer–Giedion
syndrome) – loose, redundant, wrinkled skin early; facies,
bulbous nose, and sparse hair as in TRPS-I – microcephaly,
exostoses 
Birth Defects X:147–164, 1974
Trisomy 13 (Patau syndrome) – neck
Trisomy 18 – redundant skin, rocker-bottom feet, clenched fist
Turner’s syndrome (XO in 80%) – peripheral edema at birth
which resolves by age 2; redundant neck skin in newborn; cutis
laxa of neck and buttocks; small stature, broad shield-shaped
chest with widely spaced nipples, arms show wide carrying
angle, webbed neck, low posterior hairline, low misshapen ears,
high arched palate, short fourth and fifth metacarpals and
metatarsals, hypoplastic nails, keloid formation, increased
number of nevi; skeletal, cardiovascular, ocular abnormalities;
increased pituitary gonadotropins with low estrogen levels
JAAD 50:767–776, 2004; JAAD 40:877–890, 1999
Weaver syndrome – prenatal overgrowth syndrome 
Am J Dis
Child 138:1113–1115, 1984
Werner’s syndrome
Wiedemann–Rautenstrauch syndrome (neonatal
pseudohydrocephalic progeroid syndrome of
Wiedemann–Rautenstrauch) 
Clin Genet 51:200–204, 1997;
Eur J Pediatr 136:245–248, 1981
Wrinkly skin syndrome – autosomal recessive 
Clin Genet
38:307–313, 1990; same as cutis laxa with growth and
developmental delay 
Am J Med Genet 85:194, 1999