Epidermolytic palmoplantar keratoderma due to keratin 9 gene mutation (Arg163Trp)

Ahmet Okay Caglayan, U. Uksal, H. C. Hennies

Research output: Contribution to journalArticle

Abstract

Epidermolytic palmoplantar keratoderma (EPPK, MIM #144200) is an autosomal dominant inherited skin disorder generally due to mutations of KRT9 gene, which is expressed exclusively in the differentiating skin of the palms and soles, and characterized clinically by diffuse, yellow thickening of the skin of the palms and soles. We investigated a Turkish girl, who presented hyperkeratosis of palms and soles. No other body sites were affected. Oral mucosa, hair and nails were normal. No other family member was affected. We performed KRT9 gene analysis and confirmed the diagnosis of epidermolytic palmoplantar keratoderma for the first time in Turkey.

LanguageEnglish
Pages95-96
Number of pages2
JournalEuropean Journal of Pediatric Dermatology
Volume19
Issue number2
Publication statusPublished - 1 Jan 2009
Externally publishedYes

Fingerprint

Keratoderma, Palmoplantar, Epidermolytic
Keratin-9
Skin
Mutation
Genes
Mouth Mucosa
Nails
Turkey
Hair

Cite this

@article{3e531457ddf84f5280220c786621ba03,
title = "Epidermolytic palmoplantar keratoderma due to keratin 9 gene mutation (Arg163Trp)",
abstract = "Epidermolytic palmoplantar keratoderma (EPPK, MIM #144200) is an autosomal dominant inherited skin disorder generally due to mutations of KRT9 gene, which is expressed exclusively in the differentiating skin of the palms and soles, and characterized clinically by diffuse, yellow thickening of the skin of the palms and soles. We investigated a Turkish girl, who presented hyperkeratosis of palms and soles. No other body sites were affected. Oral mucosa, hair and nails were normal. No other family member was affected. We performed KRT9 gene analysis and confirmed the diagnosis of epidermolytic palmoplantar keratoderma for the first time in Turkey.",
keywords = "Genetics, Keratin, Mutation",
author = "Caglayan, {Ahmet Okay} and U. Uksal and Hennies, {H. C.}",
year = "2009",
month = "1",
day = "1",
language = "English",
volume = "19",
pages = "95--96",
journal = "European Journal of Pediatric Dermatology",
issn = "1122-7672",
publisher = "Dermatologia Peditrica",
number = "2",

}

Epidermolytic palmoplantar keratoderma due to keratin 9 gene mutation (Arg163Trp). / Caglayan, Ahmet Okay; Uksal, U.; Hennies, H. C.

In: European Journal of Pediatric Dermatology, Vol. 19, No. 2, 01.01.2009, p. 95-96.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Epidermolytic palmoplantar keratoderma due to keratin 9 gene mutation (Arg163Trp)

AU - Caglayan, Ahmet Okay

AU - Uksal, U.

AU - Hennies, H. C.

PY - 2009/1/1

Y1 - 2009/1/1

N2 - Epidermolytic palmoplantar keratoderma (EPPK, MIM #144200) is an autosomal dominant inherited skin disorder generally due to mutations of KRT9 gene, which is expressed exclusively in the differentiating skin of the palms and soles, and characterized clinically by diffuse, yellow thickening of the skin of the palms and soles. We investigated a Turkish girl, who presented hyperkeratosis of palms and soles. No other body sites were affected. Oral mucosa, hair and nails were normal. No other family member was affected. We performed KRT9 gene analysis and confirmed the diagnosis of epidermolytic palmoplantar keratoderma for the first time in Turkey.

AB - Epidermolytic palmoplantar keratoderma (EPPK, MIM #144200) is an autosomal dominant inherited skin disorder generally due to mutations of KRT9 gene, which is expressed exclusively in the differentiating skin of the palms and soles, and characterized clinically by diffuse, yellow thickening of the skin of the palms and soles. We investigated a Turkish girl, who presented hyperkeratosis of palms and soles. No other body sites were affected. Oral mucosa, hair and nails were normal. No other family member was affected. We performed KRT9 gene analysis and confirmed the diagnosis of epidermolytic palmoplantar keratoderma for the first time in Turkey.

KW - Genetics

KW - Keratin

KW - Mutation

UR - http://www.scopus.com/inward/record.url?scp=70350542707&partnerID=8YFLogxK

M3 - Article

VL - 19

SP - 95

EP - 96

JO - European Journal of Pediatric Dermatology

T2 - European Journal of Pediatric Dermatology

JF - European Journal of Pediatric Dermatology

SN - 1122-7672

IS - 2

ER -