Schneiderman Prelims Vol-I. qxd

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A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1
Schneiderman page 200-300.qxd 5/16/2006 6:49 PM Page 248

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hyperkeratosis, sensorineural deafness, connexin mutation 
BJD
146:938–942, 2002
Ichthyosis follicularis with atrichia and photophobia (IFAP
syndrome) 
BJD 142:157–162, 2000; Am J Med Genet
85:365–368, 1999
Incontinentia pigmenti 
AD 139:1163–1170, 2003
Keratosis follicularis spinulosa decalvans – X-linked dominant
and autosomal dominant; alopecia, xerosis, thickened nails,
photophobia, spiny follicular papules (keratosis pilaris), scalp
pustules, palmoplantar keratoderma 
Ped Derm 22:170–174,
2005
Keratosis–ichthyosis–deafness syndrome – hyperkeratotic
papules and plaques of face, scalp, trunk, extremities;
exaggerated diaper dermatitis 
Ped Derm 13:105–113, 1996;
BJD 122:689–697, 1990
Lipoid proteinosis 
BJD 151:413–423, 2004; JID 120:345–350,
2003; BJD 148:180–182, 2003; Hum Molec Genet 11:833–840,
2002; Int J Derm 39:203–204, 2000; Ped Derm 14:22–25, 1997;
AD 132:1239–1244, 1996
Netherton’s syndrome – hyperkeratosis of medial buttock
Neu–Laxova syndrome – rudimentary eyelids, polyhydramnios,
growth retardation, microcephaly, ichthyosis, thick
hyperkeratotic skin 
Am J Med Genet 43:602–605, 1992
Olmsted syndrome – periorificial hyperkeratosis 
BJD
136:935–938, 1997
Pachyonychia congenita – including thickened nails 
Rook
p.2865, 1998, Sixth Edition
Phakomatosis pigmentovascularis – port wine stain,
oculocutaneous (dermal and scleral) melanosis, CNS
manifestations; type I – PWS and linear epidermal nevus;
type II – PWS and dermal melanocytosis; type III – PWS and
nevus spilus; type IV – PWS, dermal melanocytosis, and nevus
spilus; types II,III, and IV may also have nevus anemicus
Ped Derm 21:642–645, 2004; J Dermatol 26:834–836, 1999;
Ped Derm 15:321–323, 1998; Ped Derm 13:33–35, 1996;
AD 121:651–653, 1985; Jpn J Dermatol 52:1–3, 1947
Proteus syndrome – epidermal nevi of trunk and neck, vascular
malformations, lipomas, cerebriform connective tissue nevi of
feet 
JAAD 52:834–838, 2005
Pseudohypoparathyroidism – dry, scaly, hyperkeratotic
puffy skin; multiple subcutaneous osteomas, collagenoma
BJD 143:1122–1124, 2000
Reiter’s syndrome – keratoderma blenorrhagicum; soles,
pretibial areas, dorsal toes, feet, fingers, hands, nails, scalp
Cutis 71:198–200, 2003; Rook p.2765–2766, 1998; Semin
Arthritis Rheum 3:253–286, 1974
Rothmund–Thomson syndrome (poikiloderma congenitale) –
autosomal recessive; hyperkeratotic lesions of hands, wrists,
feet, and ankles 
Ped Derm 18:210–212, 2001; Am J Med Genet
22:102:11–17, 2001; Ped Derm 18:210212, 2001; Ped Derm
16:59–61, 1999; Dermatol Clin 13:143–150, 1995; JAAD
27:75–762, 1992; JAAD 17:332–338, 1987
Schwachman’s syndrome – neutropenia, malabsorption, failure
to thrive; generalized xerosis, follicular hyperkeratosis,
widespread dermatitis, palmoplantar hyperkeratosis 
Ped Derm
9:57–61, 1992; Arch Dis Child 55:531–547, 1980; J Pediatr
65:645–663, 1964
Werner’s syndrome – hyperkeratosis over elbows and knees
which ulcerate 
AD 124:90–101, 1988