Schneiderman Prelims Vol-I. qxd

Partial lipodystrophy, complement abnormalities, vasculitis –
macroglossia, polyarthralgia, mononeuritis, hypertrophy of
subcutaneous tissue 
Ann DV 114:1083–1091, 1987
Patau syndrome (Trisomy 13) – capillary hemangiomas of the
forehead, localized scalp defects 
G Ital DV 121:25–28, 1986
Patterson David syndrome – pseudoleprechaunism
Premature aging and short stature syndrome (Mulvihill–Smith
syndrome) – loss of facial subcutaneous tissue
Proteus syndrome – lipohypoplasia and patchy dermal
hypoplasia 
AD 140:947–953, 2004; AD 133:77–80, 1997
Prune belly syndrome – wrinkled abdominal skin with
abdominal muscle absence and urogenital malformations 
J Urol
139:335–337, 1988
Pseudoxanthoma elasticum 
Rook p.2022–2026, 1998, Sixth
Edition; penicillamine-induced pseudoxanthoma elasticum
JAAD 30:103–107, 1994; Dermatology 184:12–18, 1992;
saltpetre-induced pseudoxanthoma elasticum 
Acta DV
58:323–327, 1978
Rapp–Hodgkin ectodermal dysplasia
Reflex sympathetic dystrophy 
Cutis 68:179–182, 2001; AD
127:1541–1544, 1991; JAAD 22:513–520, 1990
Restrictive dermopathy (stiff skin syndrome) – rigid
transluecent inelastic skin; severe intrauterine growth retardation;
micrognathia, fixed facial expression, low-set ears, pinched nose,
O-shaped mouth, flexion contractures 
AD 138:831–836, 2002
Reticulolinear aplasia cutis congenita of the face and neck – Xp
deletion syndrome, MIDAS (microphthalmia, dermal aplasia,
sclerocornea), MLS (microphthalmia and linear skin defects),
and Gazali–Temple syndrome; lethal in males; residual facial
scarring in females, short stature, organ malformations 
BJD
138:1046–1052, 1998
Roberts syndrome (pseudothalidomide syndrome, SC
phocomelia syndrome) – facial midline capillary malformation
with limb defects; bony abnormalities, cleft lip and palate,
unusual facies (hypoplastic nares, micrognathia, malformed
ears, hypertelorism); marked growth retardation; silvery hair
Curr Probl Dermatol 3:69–107, 1995
Romberg syndrome (facial hemiatrophy) 
Arch Neurol
39:44–46, 1982
Rombo syndrome – acral erythema, cyanotic redness, follicular
atrophy (atrophoderma vermiculata), milia-like papules,
telangiectasias, red ears with telangiectasia, thin eyebrows,
sparse beard hair, basal cell carcinomas, short stature 
BJD
144:1215–1218, 2001; Acta DV (Stockh) 61:497–503, 1981
Rothmund–Thomson syndrome (poikiloderma congenitale) 
Ruvalcaba syndrome – atrophic plaques on trunk
Sakati syndrome – patchy alopecia with atrophic skin above
ears, submental linear scars, acrocephalopolysyndactyly, short
limbs, congenital heart disease, abnormally shaped low-set ears,
ear tag, short neck with low hairline 
J Pediatr 79:104–109, 1971
Say–Barber syndrome – short stature, microcephaly, large ears,
flexion contractures, decreased subcutaneous fat; dermatitis in
infancy with transient hypogammaglobulinemia 
Am J Med
Genet 86:165–167, 1999
Scleroatrophic and keratotic dermatosis of limbs (scleroatrophic
syndrome of Huriez) – autosomal dominant; scleroatrophy of
hands, sclerodactyly, palmoplantar keratoderma, xerosis,
hypoplastic nails 
BJD 143:1091–1096, 2000; BJD 134:512–518,
1996; Bull Soc Fr Dermatol Syphiligr 70:24–28, 1963
Setleis syndrome (focal facial dermal dysplasia) – aged leonine
appearance, bi-temporal scar-like defects, absent or multiple
rows of upper eyelashes, eyebrows slanted up and out, scar-like
median furrow of chin 
BJD 130:645–649, 1994; Pediatrics
32:540–548, 1963
SHORT syndrome 
Syndromes of the Head and Neck, p.826, 1990
Sjögren’s syndrome – atrophic vulvitis, anal mucosa 
Rook
p.2572, 1998, Sixth Edition
Terminal osseous dysplasia and pigmentary defects – regional
skin hypoplasia 
Am J Med Genet 124A:202–208, 2004
Thoracic outlet syndrome
Treacher Collins syndrome