Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene.
Ectodermal dysplasia-skin fragility syndrome (EDSFS) is an autosomal recessive genodermatosis characterized by skin fragility, palmoplantar hyperkeratosis, onichodystrophy, perioral fissuring and noncicatricial alopecia. It is caused by plakophilin-1 (PKP1) deficiency, which results in desmosomal abnormality and poor intercellular cohesion between the epidermal cells. We report a case with a novel PKP1 mutation in intron 6.
Department of Dermatology, Hospital Niño Jesús, Madrid, Spain.
A
A
Hernández-Martín
A
A
Torrelo
S
S
Ciria
I
I
Colmenero
A
A
Aguilar
R
R
Grimalt
R
R
González-Sarmiento
D000293:Adolescent; D004476:Ectodermal Dysplasia / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D051191:Plakophilins / Q000235:genetics*; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology
D051191:Plakophilins