Steatocystoma multiplex: keratin 17-the key player?

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F12%3A43908320" target="_blank" >RIV/00216208:11120/12:43908320 - isvavai.cz</a>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Steatocystoma multiplex: keratin 17-the key player?

Popis výsledku v původním jazyce

Steatocystoma multiplex (SM) is a rare disorder of the pilosebaceous unit characterized by the eruption of numerous sebum-containing dermal cysts. Most cases are sporadic; how-ever, familial cases with autosomal dominant inheritance have also been described. The aetiopathogenesis of SM remains elusive but there are several hypotheses to explain its cause, such as it originating from sebaceous retention cysts, or representing a naevoid malformation of the pilosebaceous duct. Surgical removal and decapitation of the cyst surface are the most frequently applied therapeutic options. Mutations in the keratin 17 (K17) gene (KRT17) have been repeatedly reported for familial cases of SM. K17 is a type I keratin expressed in a number of epidermal appendages, such as the nail bed, hair follicles and sebaceous glands. Here, we present a family comprising five affected individuals with SM with remarkably varying severity.

Název v anglickém jazyce

Steatocystoma multiplex: keratin 17-the key player?

Popis výsledku anglicky

Steatocystoma multiplex (SM) is a rare disorder of the pilosebaceous unit characterized by the eruption of numerous sebum-containing dermal cysts. Most cases are sporadic; how-ever, familial cases with autosomal dominant inheritance have also been described. The aetiopathogenesis of SM remains elusive but there are several hypotheses to explain its cause, such as it originating from sebaceous retention cysts, or representing a naevoid malformation of the pilosebaceous duct. Surgical removal and decapitation of the cyst surface are the most frequently applied therapeutic options. Mutations in the keratin 17 (K17) gene (KRT17) have been repeatedly reported for familial cases of SM. K17 is a type I keratin expressed in a number of epidermal appendages, such as the nail bed, hair follicles and sebaceous glands. Here, we present a family comprising five affected individuals with SM with remarkably varying severity.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FO - Dermatovenerologie

OECD FORD obor

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Projekt

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Návaznosti

S - Specificky vyzkum na vysokych skolach

Rok uplatnění

2012

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

British Journal of Dermatology

ISSN

0007-0963

e-ISSN

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Svazek periodika

167

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

3

Strana od-do

1395-1397

Kód UT WoS článku

000311855700057

EID výsledku v databázi Scopus

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