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
UR - https://www.ejpd.com/index.php/journal/issue/view/51
M3 - Article
AN - SCOPUS:70350542707
VL - 19
SP - 95
EP - 96
JO - European Journal of Pediatric Dermatology
JF - European Journal of Pediatric Dermatology
SN - 1122-7672
IS - 2
M1 - 583
ER -
