Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.
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.
Ersoy-Evans
Sibel
S
Hacettepe University Faculty of Medicine, Department of Dermatology, Sihhiye, Ankara, 06100, Turkey. .sevans@hacettepe.edu.tr
Erkin
Gül
G
Fassihi
Hiva
H
Chan
Ien
I
Paller
Amy S
AS
Sürücü
Selçuk
S
McGrath
John A
JA
D002648:Child; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D051191:Plakophilins / Q000235:genetics*
C495335:PKP1 protein, human; D051191:Plakophilins