Schneiderman Prelims Vol-I. qxd

SYNDROMES
Alagille syndrome – obstructive cholestatic liver disease –
tendinous, planar, and tuberous xanthomas; xanthomas of
palmar creases, extensor fingers, nape of neck; growth
retardation, delayed puberty 
Ped Derm 22:11–14, 2005; Ped
Derm 17:447–449, 2000
Benign symmetric lipomatosis (Madelung’s disease) 
SMJ
79:1023, 1986
Birt Hogg–Dube syndrome – fibrofolliculomas – autosomal
dominant; white or yellow facial and nose papules 
AD
135:1195–1202, 1999; AD 133:1161–1166, 1997; JAAD
16:452–457, 1987
Buschke–Ollendorff syndrome (dermatofibrosis lenticularis
disseminata) – connective tissue nevi and osteopoikilosis; single
or multiple yellow, white, or skin-colored papules, nodules,
plaques of extremities; skin-colored to yellow papules 
Ped Derm
22:133–137, 2005; JAAD 49:1163–1166, 2003; JAAD
48:600–601, 2003; BJD 144:890–893, 2001; juvenile elastoma;
large yellowish nodules and plaques 
Clin Exp Dermatol
7:109–113, 1982
CHILD syndrome – congenital hemidysplasia, ichthyosis, limb
defects, ichthyosiform erythroderma with verruciform xanthoma,
linear eruptions, and hypopigmented bands; fingertip nodules
(verruciform xanthomas) 
JAAD 50:S31–33, 2004; Ped Derm
15:360–366, 1998; xanthomatous pattern Dermatologica
180:263–266, 1990
Congenital self-healing reticulohistiocytosis 
JAAD 11:447–454,
1984
Cowden’s syndrome
Ehlers–Danlos syndrome
Encephalocranial lipomatosis – linear yellow papules of
forehead extending to eyelids; ophthalmologic manifestations;
seizures, mental retardation; mandibular or maxillary ossifying
fibromas and odontomas 
Ped Derm 22:206–209, 2005;
alopecia, scalp nodules, skin-colored nodules, facial and eyelid
papules – lipomas and fibrolipomas 
JAAD 37:102–104, 1998;
JAAD 32:387–389, 1995
Farber’s disease (lipogranulomatosis) – xanthoma-like papules of
face and hands 
Textbook of Neonatal Dermatology, p.445, 2001
Francois syndrome (idiopathic carpotarsal osteolysis) –
xanthoma-like nodules of hands, elbows, and face, gingival
hyperplasia, osteochondrodystrophy, bilateral corneal dystrophy
Goltz’s syndrome (focal dermal hypoplasia) – asymmetric linear
and reticulated streaks of atrophy and telangiectasia; yellow–red
nodules; raspberry-like papillomas of lips, perineum, acrally,
at perineum, buccal mucosa; xerosis; scalp and pubic hair
sparse and brittle; short stature; asymmetric face; syndactyly,
polydactyly; ocular, dental, and skeletal abnormalities with
osteopathia striata of long bones 
JAAD 25:879–881, 1991
Hereditary progressive mucinous histiocytosis – yellow
dome-shaped papules of face, gingiva, hard palate 
BJD
141:1101–1105, 1999
Lipoid granulomatosis – Erdheim–Chester disease – periorbital
yellow papules 
JAAD 37:839–842, 1997
Lipoid proteinosis – yellow–white papules of tongue, lips,
pharynx 
Int J Derm 39:203–204, 2000; xanthoma-like nodules
of elbows 
Rook p.2641, 1998, Sixth Edition; Acta Paediatr
85:1003–1005, 1996; JAAD 27:293–297, 1992
Muir–Torre syndrome – autosomal dominant; sebaceous
adenomas, sebaceous carcinomas, keratoacanthomas 
Cutis
75:149–155, 2005; Curr Prob Derm 14:41–70, 2002; BJD
136:913–917, 1997; JAAD 33:90–104, 1995; JAAD 10:803–817,
1984; AD 98:549–551, 1968; Br J Surg 54:191–195, 1967
Multicentric reticulohistiocytosis – yellow papules and plaques
Rook p.2325–2326, 1998, Sixth Edition; Oral Surg Oral Med
Oral Pathol 65:721–725, 1988; Pathology 17:601–608, 1985;
JAAD 11:713–723, 1984; AD 97:543–547, 1968
Multiple mucosal neuroma syndrome (MEN IIB) – yellow to
skin-colored papules and nodules of oral mucosa, tongue,
eyelids, conjunctivae 
JAAD 36:296–300, 1997; Oral Surg
51:516–523, 1981; J Pediatr 86:77–83, 1975; Am J Med
31:163–166, 1961
Niemann–Pick disease – autosomal recessive; sphingomyelinase
deficiency; waxy induration with transient xanthomas overlying
enlarged cervical lymph nodes 
Medicine 37:1–95, 1958
Oculocutaneous albinism
Phakomatosis pigmentokeratotica – coexistence of an organoid
nevus (nevus sebaceus) and a papular speckled lentiginous
nevus 
Skin and Allergy News, page 34, Sept 2000
Proteus syndrome – sebaceous nevi with hyper- or
hypopigmentation 
Am J Med Genet 27:99–117, 1987; port wine
stains, subcutaneous hemangiomas and lymphangiomas,
lymphangioma circumscriptum, hemihypertrophy of the face,