Dermatologic Differential Diagnosis.pdf. - Famona Site

Sclerodactyly, non-epidermolytic palmoplantar keratoderma,
multiple cutaneous squamous cell carcinomas, periodontal
disease with loss of teeth, hypogenitalism with hypospadius,
altered sex hormone levels, hypertriglyceridemia, 46XX
JAAD 53:S234–239, 2005
Siemens syndrome (keratosis palmoplantaris areata/striata)
(Siemen–Wachter) (focal palmoplantar keratoderma varians
Wachter) Caputo p.114–115, 2000; – striate on palms, islands
on feet – autosomal dominant; islands or linear, nummular,
striate hyperkeratosis of hands and feet; some with diffuse
BJD 147:575–581, 2002; Ann DV 120:894–895, 1993; some
focal on palms; Brunauer–Fuhs – punctate variant Rook p.1566,
1998, Sixth Edition
Sjögren–Larsson syndrome
Spanglang–Tappeiner syndrome (palmoplantar keratoderma
with keratitis) – lipid infiltration of cornea.
Spiny keratoderma (multiple minute palmar–plantar digitate
hyperkeratoses) (music box keratoderma) (punctuate/spiny
keratoderma) – spiny, filiform, spiked, minute aggregate Cutis
54:389–394, 1994; BJD 121:239–242, 1989; JAAD 18:431–436,
1988; autosomal dominant; may remit with topical
5–fluorouracil; may be associated with autosomal dominant
polycystic kidney disease JAAD 34:935–936, 1996; JAAD
26:879–881, 1992; questionable paraneoplastic associations
Dermatology 201:379–380, 2000; digestive adenocarcinoma
Ann DV 124:707–709, 1997; breast cancer Ann DV
117:834–836, 1990
Striate palmoplantar keratoderma (Brunauer–Fuhs–Siemens
type) (keratosis palmoplantar striata) – autosomal dominant;
focal striate PPK Curr Prob Derm 14:71–116, 2002;
Cutis 61:18–20, 1998; Acta DV 63:273–275, 1983; mutatation
in desmosomal cadherin desmoglein 1 Eur J Hum Genet
9:197–203, 2001; desmoplakin haploinsufficiency JID
113:940–946, 1999
Striate PPK with dilated cardiomyopathy and woolly hair –
autosomal recessive; focal striate PPK Curr Prob Derm
14:71–116, 2002; epidermolytic palmoplantar keratoderma with
woolly hair and dilated cardiomyopathy JAAD 39:418–421, 1998
Sybert keratoderma – autosomal dominant; diffuse
palmoplantar erythema with transgrediens distribution,
intertriginous hyperkeratosis, pseudo-ainhum with spontaneous
amputations Curr Prob Derm 14:71–116, 2002; JAAD
18:75–86, 1988
Symmetrical interdigital keratoderma of the hands Clin Exp
Dermatol 20:240–241, 1995; Acta DV 73:459–460, 1993
Unna–Thost palmoplantar keratoderma – diffuse nonepidermolytic
palmoplantar keratoderma – autosomal dominant
Ped Derm 20:195–198, 2003; with oral keratosis or
periodontosis Rook p.3055, 1998, Sixth Edition; mutations in
keratin 16 Hum Mol Genet 4:1875–1881, 1995; mutation in
keratin 1 JID 103:764–769, 1994
Vohwinkel’s syndrome (keratoderma hereditaria mutilans) –
autosomal dominant; honeycomb palmoplantar keratoderma,
knuckle papules with starfish keratoses; ichthyosis,
pseudoainhum; JAAD 44:376–378, 2001; with sensorineural
deafness – mutation in connexin26, D66H Curr Prob Derm
14:71–116, 2002; JAAD 44:376–378, 2001; BJD 145:657–660,
2001; Hum Mol Genet 8:1237–1243, 1999; loricrin mutation
JID 111:702–704, 1998; Nat Genet 13:70–77, 1996
Vorner’s syndrome (epidermolytic palmoplantar keratoderma)
autosomal dominant – diffuse; Clin Exp Dermatol 16:383–388,
1991; mutation in keratin 9 gene Clin Exp Dermatol
25:244–246, 2000; Ped Derm 16:430–435, 1999; BJD
140:486–490, 1999; Nat Genet 6:174–179, 1994; JAAD
17:414–422, 1987; mild variant mutations in keratin 1 gene
JID 116:606–609, 2001; AD 132:1509, 1512, 1996;
PALMOPLANTAR KERATODERMAS 439
AD 124:555–559, 1988; familial association with internal
malignancies (breast, ovarian) BJD 117:363–370, 1987;
Ann DV 112:841–844, 1985
X-linked familial cutaneous amyloidosis
Zunich neuroectodermal syndrome (CHIME syndrome)
Ped Derm 13:363–371, 1996
Hyperkeratotic dermatosis of the palms BJD 107:195–201, 1982
Hypomelanosis of Ito – autosomal dominant; Blaschko-esque
depigmentation; unilateral or bilateral; no prior inflammatory
stages; 75% present at birth; CNS, musculoskeletal,
ophthalmologic abnormalities, diffuse alopecia, nail and dental
anomalies; decrease in pigmented melanosomes
JAAD 19:217–255, 1988
Hypotrichosis, striate, reticulated pitted palmoplantar
keratoderma, acro-osteolysis, psoriasiform plaques,
periodontitis, lingua plicata, ventricular arrhythmias
BJD 147:575–581, 2002
Ichthyosis hystrix – epidermolytic hyperkeratosis with diffuse
or striate PPK Rook p.1510, 1998, Sixth Edition
Keratosis follicularis spinulosa decalvans – X-linked dominant,
X-linked recessive or autosomal dominant; one of a spectrum
of keratosis pilaris atrophicans (others are KP atrophicans facei,
atrophoderma vermiculatum); diffuse KP and scarring alopecia
of scalp; atopy, palmoplantar keratoderma, photophobia,
corneal abnormalities AD 128:397–402, 1992; Dermatol
Monatsschr 174:736–740, 1988; AD 119:22–26, 1983;
Acta DV 51:146,1971; AD 114:761,1978
Keratosis lichenoides chronica JAAD 49:511–513, 2003
Nekam’s disease (keratosis lichenoides chronica) – isolated
palmoplantar hyperkeratosis; violaceous papular and nodular
lesions in linear and reticular arrays, especially on hands and
feet with seborrheic dermatitis-like rash on face Eur J Dermatol
9:497–499, 1999; AD 105:739–743, 1972
Keratosis palmoplantaris maculosa, papulosa – circumscribed PPK
Keratosis palmoplantaris striata (circumscribed PPK)
Keratosis plantaris discreta Ghatan p.220, 2002, Second Edition
Keratosis punctata of the palmar creases JAAD 13:381–382, 1985
Keratosis punctata palmaris et plantaris – focal acantholytic
dyskeratosis Am J Dermatopathol 11:574–576, 1989
Lamellar ichthyosis Rook p.1500, 1998, Sixth Edition
Lichen nitidus – palmoplantar hyperkeratosis and nail dystrophy
Clin Exp Dermatol 18:381–383, 1993
Lichen planus AD 140:1275–1280, 2004; BJD 142:310–314,
2000; may be yellowish papules or plaques; may mimic tylosis
Caputo p.16, 2000; Rook p.1904–1912, 1998, Sixth Edition
Lichen simplex chronicus
Neutral lipid storage disease (Dorfman–Chanarin syndrome) –
autosomal recessive; at birth collodion baby or ichthyosiform
erythroderma; thereafter pattern resembles non-bullous
ichthyosiform erythroderma; hypohidrosis; ectropion;
palmoplantar hyperkeratosis, WBC vacuoles, myopathy,
fatty liver, CNS disease, deafness JAAD 17:801–808, 1987;
AD 121:1000–1008, 1985
Non-bullous CIE (congenital ichthyosiform erythroderma)
(erythrodermic lamellar ichthyosis) – autosomal recessive;
hyperkeratosis of palms and soles AD 121:477–488, 1985
Pachydermoperiostosis (Touraine–Solente–Gole syndrome) –
primary pachydermoperiostosis; autosomal dominant; skin of
face, forehead, scalp folded and thickened; weary expression;
cutis verticis gyrata of scalp; skin of hands and feet thickened;
hyperhidrosis; spade-like hands; clubbing, mental retardation
common NEJM 272:923–931, 1956