Ostalo
Keratinization Disorders and Genetic Aspects in Palmar and Plantar Keratodermas
Ewa Stypczyńska
; Nicolaus Copernicus University in Toruń, Faculty of Medicine, Chair of Dermatology, Sexually Transmitted Diseases and Immunodermatology, Bydgoszcz
Waldemar Placek
; Department of Dermatology, Sexually Transmitted Diseases and Clinical Immunology, University of Warmia and Mazury, Olsztyn
Barbara Zegarska
; Nicolaus Copernicus University in Toruń, Faculty of Pharmacy, Department of Cosmetology and Esthetic Dermatology, Bydgoszcz
Rafał Czajkowski
; Nicolaus Copernicus University in Toruń, Faculty of Medicine, Chair of Dermatology, Sexually Transmitted Diseases and Immunodermatology, Bydgoszcz
Sažetak
Palmoplantar keratoderma (PPK) is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of the palms and soles. There are three clinical patterns: diffuse, focal, and punctuate. Palmoplantar keratodermas can be divided into the following functional subgroups: disturbed gene functions in structural proteins (keratins), cornified envelope (loricrin, transglutaminase), cohesion (plakophilin, desmoplakin, desmoglein 1), cell-to-cell communication (connexins) and transmembrane signal transduction (cathepsin C). Unna-Thost disease is the most common variety of hereditary PPK. Mutations in keratin 1 have been reported in Unna-Thost disease. We report 12 cases in which Unna-Thost disease was diagnosed. Genealogical study demonstrated that the genodermatosis was a familial disease inherited as an autosomal dominant disorder. Dermatological examination revealed yellowish hyperkeratosis on the palms and soles. Oral mucosa, teeth, and nails remained unchanged. Histopathological examination of the biopsy sample taken from the soles of the patients showed orthokeratotic keratosis, hypergranulosis, and acanthosis without epidermolysis.
Ključne riječi
palmoplantar keratoderma; keratin 1; genodermatoses
Hrčak ID:
161241
URI
Datum izdavanja:
5.7.2016.
Posjeta: 1.065 *