Schneiderman Prelims Vol-I. qxd

Partial unilateral lentiginosis 
Bolognia p.859, 2003
Patau syndrome (trisomy 13) 
Rook p.2812, 1998, Sixth Edition
Phakomatosis pigmentokeratotica – coexistence of CALM, an
organoid nevus and a popular speckled lentiginous nevus 
Skin
and Allergy News, page 34, Sept 2000
Phakomatosis pigmentovascularis type Ia – port wine stain,
congenital Becker’s nevus, café au lait macules, and lentigines
J Dermatol 26:834–836, 1999
Piebaldism 
Curr Prob Derm VII:143–198, 1995
Proteus syndrome – café au lait macules 
Ped Derm
14:1–5, 1997; port wine stains, subcutaneous hemangiomas
and lymphangiomas, lymphangioma circumscriptum,
hemihypertrophy of the face, limbs, trunk; macrodactyly,
cerebriform hypertrophy of palmar and/or plantar surfaces,
macrocephaly; verrucous epidermal nevi, sebaceous nevi
with hyper- or hypopigmentation 
Am J Med Genet 27:99–117,
1987; vascular nevi, soft subcutaneous masses; lipodystrophy,
linear and whorled macular pigmentation 
Am J Med Genet
27:87–97, 1987; Pediatrics 76:984–989, 1985; Eur J Pediatr
140:5–12, 1983
Ring chromosomes 7, 12, 15 
Bolognia p.859, 2003
Ring chromosome 11 – CALMs microcephaly, mental
retardation 
Am J Med Genet 30:911–916, 1988; JAAD
40:877–890, 1999
Ring chromosome 17 – multiple café au lait macules, short
stature 
Ped Derm 22:270–275, 2005
Rubenstein–Taybi syndrome – arciform keloids, hypertrichosis,
long eyelashes, thick eyebrows, keratosis pilaris or ulerythema
ophyrogenes, low-set ears, very short stature, broad terminal
phalanges of thumbs and great toes, hemangiomas, nevus
flammeus, café au lait macules, pilomatrixomas, cardiac
anomalies, mental retardation 
Ped Derm 19:177–179, 2002;
Am J Dis Child 105:588–608, 1963
CAFÉ AU LAIT MACULES, ASSOCIATIONS
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Russell–Silver syndrome – large head, short stature,
premature sexual development, CALMs, clinodactyly, syndactyly
of toes, small triangular face, ambiguous genitalia, excessive
sweating 
JAAD 40:877–890, 1999; J Med Genet 36:837–842,
1999; Curr Prob Derm VII:143–198, 1995; Am J Med Genet
35:245–250, 1990
Schimke immuno-osseous dysplasia 
Eur J Pediatr 159:1–7, 2000
Tay syndrome – autosomal recessive, growth retardation,
triangular face, cirrhosis, trident hands, premature canities,
vitiligo 
Bolognia p.859, 2003
Tuberous sclerosis 
Clin Exp Dermatol 10:562–565, 1985
Turner’s syndrome
Urticaria pigmentosa – simulates café au lait macules
Von Hippel–Lindau disease – macular telangiectatic nevi,
facial or occipitocervical; retinal angiomatosis, cerebellar or
medullary or spinal hemangioblastoma, renal cell carcinoma.
pheochromocytoma, café au lait macules 
Arch Intern Med
136:769–777, 1976
Watson syndrome – autosomal dominant; intertriginous (axillary
and perianal) freckling, CALMs, short stature, intellectual deficit,
pulmonary valve stenosis 
JAAD 46:161–183, 2002; JAAD
40:877–890, 1999; Curr Prob Derm VII:143–198, 1995
Westerhof syndrome – autosomal dominant, hyper- and
hypopigmented macules on trunk and extremities, short stature,
small sella turcica, cervical ribs 
AD 114:931–936, 1978