Schneiderman Prelims Vol-I. qxd

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A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1
Schneiderman page 600-722.qxd 5/16/2006 6:51 PM Page 622

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Russell–Silver syndrome – large head, short stature, premature
sexual development, CALMs, clinodactyly, syndactyly of toes,
triangular face 
JAAD 40:877–890, 1999; J Med Genet
36:837–842, 1999; Clin Genet 29:151–156, 1986; Am J Dis
Child 13:447–451, 1977
Schwachman syndrome – autosomal recessive; malabsorption,
failure to thrive, neutropenia; dry face with perioral dermatitis,
palmoplantar hyperkeratosis 
J Pediatr 135:81–88, 1999;
J Pediatr 65:645–663, 1964
Sjögren–Larsson syndrome 
Ped Derm 20:180–182, 2003
Tricho-oculo-dermo-vertebral syndrome (Alves syndrome) –
dry, sparse, brittle hair, dystrophic nails, plantar keratoderma,
short stature, cataracts 
Am J Med Genet 46:313–315, 1993
Trichorhinophalangeal syndrome 
Am J Hum Genet 68:81–91,
2001; Dermatology 193:349–352, 1996; trichorhinophalangeal
syndrome I – autosomal dominant; pear-shaped nose, tubercle
of normal skin below the lower lip, fusiform swelling of the PIP
joints; fine brittle sparse hair, eyebrows sparse laterally, dense
medially, short stature 
JAAD 31:331–336, 1994
Trichothiodystrophy syndromes – BIDS, IBIDS, PIBIDS –
poikiloderma, sparse or absent eyelashes and eyebrows,
brittle hair, premature aging, sexual immaturity, ichthyosis,
dysmyelination, bird-like facies, dental caries; trichothiodystrophy
with ichthyosis, urologic malformations, hypercalciuria and
mental and physical retardation 
JAAD 52:224–232, 2005;
JAAD 44:891–920, 2001; Ped Derm 14:441–445, 1997;
trichothiodystrophy, mental retardation, short stature, ataxia, and
gonadal dysfunction 
Am J Med Genet 35:566–573, 1990
Turner’s syndrome (XO in 80%) – peripheral edema at birth
which resolves by age 2; redundant neck skin in newborn; small
stature, broad shield-shaped cest with widely spaced nipples,
arms show wide carrying angle, webbed neck, low posterior
hairline, low misshhapen ears, high arched palate, cutis laxa of
neck and buttocks, short fourth and fifth metacarpals and
metatarsals, hypoplastic nails, keloid formation, increased
numbers of nevi; skeletal, cardiovascular, ocular abnormalities;
increased pituitary gonadotropins with low estrogen levels
JAAD 46:161–183, 2002; JAAD 40:877–890, 1999; NEJM
335:1749–1754, 1996
Variegate porphyria – homozygous variegate porphyria –
erosions, photosensitivity, short stature 
BJD 144:866–869, 2001
Werner’s syndrome 
Medicine 45:177–221, 1966
Wolf–Hirschhorn syndrome – 4p deletion; posterior midline
scalp defects, cutaneous T-cell lymphoma, growth retardation
Ped Derm 22:270–275, 2005
Xeroderma pigmentosum 
Rook p.3261, 1998, Sixth Edition
X-linked recessive ichthyosis with mild mental retardation,
chondrodysplasia punctata and short stature 
Clin Genet
34:31–37, 1988
Zinc deficiency, endemic 
Am J Clin Nutr 30:833–834, 1977;
Arch Int Med 111:407–428, 1963