title: Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.
abstract: We report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development.
authors.affiliation: Hacettepe University Faculty of Medicine, Department of Dermatology, Sihhiye, Ankara, 06100, Turkey. .sevans@hacettepe.edu.tr
authors.forename: Sibel
authors.initials: S
authors.lastname: Ersoy-Evans
authors.forename: Gül
authors.initials: G
authors.lastname: Erkin
authors.forename: Hiva
authors.initials: H
authors.lastname: Fassihi
authors.forename: Ien
authors.initials: I
authors.lastname: Chan
authors.forename: Amy S
authors.initials: AS
authors.lastname: Paller
authors.forename: Selçuk
authors.initials: S
authors.lastname: Sürücü
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D002648:Child; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D051191:Plakophilins / Q000235:genetics*
chemical_list: C495335:PKP1 protein, human; D051191:Plakophilins