Localized non-epidermolytic keratoderma
نویسندگان
چکیده
منابع مشابه
Autosomal recessive epidermolytic palmoplantar keratoderma.
Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a well delineated autosomal dominant entity, but no recessive form is known. Here we report two sons of phenotypically normal, consanguineous, Arab parents with features suggestive of PPK. They presented with patchy eczematous skin lesions followed by PPK and raised serum levels of IgE. Skin biopsy from t...
متن کاملDiffuse epidermolytic palmoplantar keratoderma (Unna-Thost-).
DESCRIPTION We report the case of a 28-year-old man presenting to our hospital with refractory diffuse hyperkeratosis of palms and soles. He reported first appearance in early childhood. His first-born daughter also developed hyperkeratosis on palms and soles directly after birth. No other family member seems to be affected by similar skin lesions. Clinically, our patient presented diffuse hype...
متن کاملInfantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma.
Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder. Other manifestations include palmoplantar keratoderma (PPK). EI results from mutations in the keratin 1 and keratin 10 genes. Phenotypic var...
متن کاملA spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK).
TO THE EDITOR The keratin 16 gene (KRT16) encodes an intermediate filament protein mainly expressed in palmoplantar epidermis. In humans, mutations in KRT16 are responsible for pachyonychia congenita and focal non-epidermolytic palmoplantar keratoderma (FNEPPK; Smith et al., 2000; McLean and Moore, 2011). One of the main symptoms is a painful thickening of the palms and soles. To understand mol...
متن کاملPossible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9.
Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease characterized by diffuse hyperkeratosis of the epidermis of the palm and sole with an erythematous margin. The Keratin 9 (KRT9) and Keratin 1 genes are responsible for EPPK. Several previous studies have focused on the genetic basis of EPPK; however, genetic anticipation has not yet been reported. We described a four...
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology, Venereology and Leprology
سال: 2006
ISSN: 0378-6323
DOI: 10.4103/0378-6323.26719