Schneiderman Prelims Vol-I. qxd

SYNDROMES
Birt–Hogg–Dube syndrome – fibrofolliculomas; autosomal
dominant; fibrofolliculomas (of mesodermal and epithelial
origin), trichodiscomas (of mesodermal origin) and
acrochordons on face, neck, scalp and upper trunk; differential
diagnosis includes multiple trichoepitheliomas (autosomal
dominant), Cowden’s syndrome (autosomal dominant),
fibrofolliculomas (autosomal dominant), trichodiscomas
(autosomal dominant), perifollicular fibromas and adenoma
sebaceum (autosomal dominant); association with renal cell
carcinoma 
JAAD 16:452–457, 1987
Buschke–Ollendorff syndrome – skin-colored to yellow papules
Ped Derm 22:133–137, 2005; JAAD 49:1163–1166, 2003;
BJD 144:890–893, 2001
Congenital erosive and vesicular dermatitis with reticulate
scarring – cobblestoned scars
AD 121:361–367, 1985
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A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1
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Cowden’s syndrome (multiple hamartoma syndrome) –
trichilemmomas coalescing around the eyes and mouth
JAAD 11:1127–1141, 1984; AD 114:743–746, 1978
Epidermodysplasia verruciformis 
JAAD 32:523–524, 1995
Hunter’s syndrome (mucopolysaccharidosis IIb) –
X-linked recessive; scapular papules; also posterior
axillary lines, upper arms, forearms, chest, outer thighs;
decreased sulfoiduronate sulfatase; flesh colored papules
overlying scapulae; linear and reticular patterns; also on
shoulder, upper arms and chest, and lateral thighs; rough
thickened skin, coarse scalp hair and hirsutism; coarse facies
with frontal bossing, hypertelorism and thick tongue; dysostosis
multiplex; hunched shoulders and characteristic posturing;
hepatosplenomegaly; upper respiratory infections due to
laryngeal or tracheal stenosis; mental retardation; deafness;
retinal degeneration and corneal clouding; umbilical
and inguinal hernias; thickened heart valves leading to
congestive heart failure 
BJD 148:1173–1178, 2003;
Clin Exp Dermatol 24:179–182, 1999; AD 134:108–109, 1998;
JAAD 39:1013–1015, 1998; Ped Derm 15:370–373, 1998;
Am J Med Genet 47:456–457, 1993; Ped Derm 7:150–152,
1990
Hurler’s syndrome – scapular papules; pebbling of skin
between scapulae or on deltoid region; also posterior axillary
lines, upper arms, forearms, chest, outer thighs 
Acta Paediatr
41:161–167, 1952
Hutchinson–Guilford syndrome – soft and pebbly nodules
HID syndrome (hystrix-like ichthyosis with deafness) –
autosomal dominant; shark-skin appearance, sensorineural
deafness, spiky and cobblestoned hyperkeratosis, neonatal
erythroderma, scarring alopecia, occasional punctate keratitis;
probably variant of KID syndrome with mutation of connexin 26
(gap junction protein) 
BJD 146:938–942, 2002
Juvenile hyaline fibromatosis – autosomal recessive; ages 2 to
adult; myofibroblastic origin; face, scalp and back; joint
deformities, gingival hyperplasia and papillomatous perianal
lesions 
Ped Derm 6:68, 1989
Lipoid proteinosis – hyaline-like material is PAS
+
and diastase
resistant 
JAAD 16:1193–1201, 1987
Michelin tire baby syndrome
Multicentric reticulohistiocytosis 
Clin Derm 11:107–111, 1993;
JAAD 11:713–723, 1984
Neurofibromatosis type I – elephantiasis neurofibromatosa
Pachydermoperiostosis – cobblestoned palmoplantar
hyperkeratosis 
J Dermatol 27:106–109, 2000
Perioral cobblestoning, ichthyosis and deafness
AD 124:102–106, 1988
Proteus syndrome – cerebriform hyperplasia or connective
tissue nevus of soles 
AD 140:947–953, 2004; JAMA
285:2240–2243, 2001; Ped Derm 6:344–345, 1989
Pseudoxanthoma elasticum – linear and reticulated
cobblestoned yellow papules and plaques 
JAAD 42:324–328,
2000; Dermatology 199:3–7, 1999; AD 124:1559, 1988; PXE
and acrosclerosis 
Proc R Soc Med 70:567–570, 1977
ROMBO syndrome – autosomal dominant; grainy skin, multiple
basal cell carcinomas, vermicular atrophoderma,
trichoepitheliomas, hypotrichosis, cyanosis of hands and feet;
differential diagnosis includes Bazex syndrome (follicular
atrophoderma, hypotrichosis, basal cell carcinomas),
Rasmussen syndrome (milia, trichoepithliomas and
cylindromas), and Birt–Hogg–Dube 
JAAD 28:1011–1014, 1993
Tuberous sclerosis – connective tissue nevus; adenoma
sebaceum