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1 ic cardiomyopathy and the cutaneous disorder palmoplantar keratoderma.
2 for understanding the pathogenesis of human palmoplantar keratoderma.
3 predominantly by nail dystrophy and painful palmoplantar keratoderma.
4 eleda is a rare, autosomal recessive form of palmoplantar keratoderma.
5 ation family of British descent with striate palmoplantar keratoderma.
6 dominantly inherited skin disorder, striate palmoplantar keratoderma.
7 calized or generalized scaling, and frequent palmoplantar keratoderma.
8 the K9 gene are known to cause epidermolytic palmoplantar keratoderma, a rare dominant-negative skin
9 autosomal recessive pattern, manifests with palmoplantar keratoderma and early, destructive periodon
10 olidify a link between Slurp2 deficiency and palmoplantar keratoderma and to be confident that the di
13 inant skin disease, diffuse nonepidermolytic palmoplantar keratoderma, and was investigated as a poss
14 s for the triad of autosomal recessive ARVC, palmoplantar keratoderma, and woolly hair (Naxos disease
15 gene that results in skin fragility, diffuse palmoplantar keratoderma, and woolly hair with no sympto
17 roup of disorders, known collectively as the palmoplantar keratodermas, are unified by the phenotypic
18 s leading to keratinopathies such as striate palmoplantar keratoderma, as reported in this study.
19 of the autosomal dominant disorder, striate palmoplantar keratoderma, as well as an autosomal recess
20 eratitis-ichthyosis-deafness (KID) syndrome, palmoplantar keratoderma associated with hearing loss, a
21 paper, we report three patients with severe palmoplantar keratoderma associated with ichthyosis and
26 ified KRT6C mutations in patients with focal palmoplantar keratoderma (FPPK), but debate concerning o
28 ermatosis characterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the
29 prised nail dystrophy or nail loss, marginal palmoplantar keratoderma, hypodontia, enamel hypoplasia,
30 d, scaly skin at birth, experience worsening palmoplantar keratoderma in childhood, and develop hundr
32 osis on the volar surface of the paws (i.e., palmoplantar keratoderma), increased keratinocyte prolif
35 Autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma is characterized by the adoptio
37 epidermolysis bullosa simplex, epidermolytic palmoplantar keratoderma, junctional epidermolysis bullo
38 characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia,
40 ensive mucocutaneous blisters, epidermolytic palmoplantar keratoderma, nail dystrophy, enamel dysplas
42 autosomal-dominant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a
43 recapitulated the clinical features of human palmoplantar keratoderma: overcornification and thickeni
48 delG in the V2 domain of keratin 5), striate palmoplantar keratoderma (PPK), and ichthyosis hystrix C
53 a dominantly inherited skin disease, striate palmoplantar keratoderma (SPPK), mapping to chromosome 1
55 smoplakin mutation in a proband with striate palmoplantar keratoderma that also results in a null all
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