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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

Puni tekst: engleski, PDF (187 KB) str. 116-116 preuzimanja: 230* citiraj
APA 6th Edition
Stypczyńska, E., Placek, W., Zegarska, B. i Czajkowski, R. (2016). Keratinization Disorders and Genetic Aspects in Palmar and Plantar Keratodermas. Acta dermatovenerologica Croatica, 24 (2), 116-116. Preuzeto s https://hrcak.srce.hr/161241
MLA 8th Edition
Stypczyńska, Ewa, et al. "Keratinization Disorders and Genetic Aspects in Palmar and Plantar Keratodermas." Acta dermatovenerologica Croatica, vol. 24, br. 2, 2016, str. 116-116. https://hrcak.srce.hr/161241. Citirano 19.09.2019.
Chicago 17th Edition
Stypczyńska, Ewa, Waldemar Placek, Barbara Zegarska i Rafał Czajkowski. "Keratinization Disorders and Genetic Aspects in Palmar and Plantar Keratodermas." Acta dermatovenerologica Croatica 24, br. 2 (2016): 116-116. https://hrcak.srce.hr/161241
Harvard
Stypczyńska, E., et al. (2016). 'Keratinization Disorders and Genetic Aspects in Palmar and Plantar Keratodermas', Acta dermatovenerologica Croatica, 24(2), str. 116-116. Preuzeto s: https://hrcak.srce.hr/161241 (Datum pristupa: 19.09.2019.)
Vancouver
Stypczyńska E, Placek W, Zegarska B, Czajkowski R. Keratinization Disorders and Genetic Aspects in Palmar and Plantar Keratodermas. Acta Dermatovenerol Croat. [Internet]. 2016 [pristupljeno 19.09.2019.];24(2):116-116. Dostupno na: https://hrcak.srce.hr/161241
IEEE
E. Stypczyńska, W. Placek, B. Zegarska i R. Czajkowski, "Keratinization Disorders and Genetic Aspects in Palmar and Plantar Keratodermas", Acta dermatovenerologica Croatica, vol.24, br. 2, str. 116-116, 2016. [Online]. Dostupno na: https://hrcak.srce.hr/161241. [Citirano: 19.09.2019.]

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
https://hrcak.srce.hr/161241

Posjeta: 350 *