Schneiderman Prelims Vol-I. qxd

CONGENITAL AND INHERITED DISORDERS
Aarskog syndrome – widow’s peak 
J Pediatr 77:856–861, 1970
Ablepharon with follicular ichthyosis and hairy pinnae 
Clin
Genet 2:111–114, 1971
Accessory tragus – vellus hairs on the surface; ear papule –
isolated, Treacher Collins syndrome (mandibulofacial dysostosis;
autosomal dominant), Goldenhaar syndrome ((oculo-auriculo-
vertebral syndrome) – macroglossia, preauricular tags, abnormal
pinnae, facial asymmetry, macrostomia, epibulbar dermoids,
facial weakness, central nervous system, renal, and skeletal
anomalies), Nagers syndrome, Wolf–Hirschhorn syndrome
(chromosome 4 deletion syndrome), oculocerebrocutaneous
syndrome 
Ped Derm 17:391–394, 2000; Townes–Brocks
syndrome 
Am J Med Genet 18:147–152, 1984; VACTERL
syndrome 
J Pediatr 93:270–273, 1978
Acrofrontofacionasal dysostosis – widow’s peak 
Am J Med
Genet 20:631–638, 1985
Ambras syndrome – facial hypertrichosis of forehead, cheeks,
preauricular region, nose 
Clin Genet 57:157–158, 2000
Anterior cervical hypertrichosis – autosomal dominant 
JAAD
48:161–179, 2003; Am J Med Genet 55:498–499, 1995
Aplasia cutis congenital; hair collar sign and vascular stain 
Ped
Derm 22:200–205, 2005
Ataxia telangiectasia (Louis-Bar disease) – hirsutism; autosomal
recessive; oculocutaneous telangiectasias with cerebellar
ataxia, choreoathetosis, and recurrent pulmonary infections;
low IgA; skin may become sclerodermoid; high alpha fetoprotein
and carcinoembryonic antigen; defects in DNA repair; 11q22–23;
solid tumors and lymphoreticular malignancies are associated
JAAD 10:431–438, 1984
Atretic encephalocoele
Atretic meningocoele
Bald cyst with surrounding hypertrichosis (‘hair collar sign’)
AD 125:1253–1256, 1989
Aplasia cutis congenita, membranous 
AD 137:45–50, 2001
Atretic encephalocoele
Atretic meningocoele
Cutaneous meningioma (psammoma) 
Encephalocoele 
AD 137:45–50, 2001
Herniated brain tissue with connection to brain; associated
with local defect in cranial bones.
Heterotopic brain tissue – bald cyst of scalp with surrounding
hypertrichosis; extracranial brain tissue; presents in neonates
as circular bald lesions 2–4 cm on scalp; cystic or solid,
red–blue; occur on occiput; needs to be differentiated from
neurofibroma, porokeratosis of Mibelli, triangular alopecia,
epithelial nevi and tumors, vascular nevi (including
lymphangioma), and cephalohematoma, and other lesions
associated with localized hypertrichosis 
AD 137:45–50, 2001;
BJD 129:183–185, 1993; AD 125:1253–1256, 1989
Intracranial dermal sinus tract
Oculocerebral cutaneous syndrome
Pre-auricular skin defects 
AD 133:1551–1554, 1997
Rudimentary meningocoele and membranous aplasia cutis
congenita 
AD 137:45–50, 2001; AD 131:1427–1431, 1995
Subcutaneous meningocoele
Barber–Say syndrome – hypertrichosis of back and neck,
eyebrows, eyelashes, large mouth, abnormal external ears,
wrinkled, lax, atrophic skin 
JAAD 48:161–179, 2003
Becker’s nevus 
JAAD 48:161–179, 2003; Rook p.2892, 1998,
Sixth Edition; congenital Ped Derm 14:373–375, 1997
Benign fibrous tumor – hair collar sign and vascular stain 
Ped
Derm 22:200–205, 2005
Berardinelli–Seip syndrome – autosomal recessive; lipoatrophic
diabetes mellitus 
JAAD 48:161–179, 2003
Brachycephalofrontonasal dysplasia – widow’s peak 
Am J Med
Genet 28:581–591, 1987
Cantu syndrome – osteochondrodysplasia with hypertrichosis –
autosomal recessive, autosomal dominant 
JAAD 48:161–179,
2003