Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1

Ersoy-Evans, SİBEL; Erkin, Gul; Fassihi, Hiva; Chan, Ien; Paller, Amy; Sueruecue, Selcuk; McGrath, John

doi:10.1016/j.jaad.2005.10.002

Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1

Ersoy-Evans S., Erkin G., Fassihi H., Chan I., Paller A. S., Sueruecue S., ...Daha Fazla

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, cilt.55, sa.1, ss.157-161, 2006 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 55 Sayı: 1
Basım Tarihi: 2006
Doi Numarası: 10.1016/j.jaad.2005.10.002
Dergi Adı: JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.157-161
Hacettepe Üniversitesi Adresli: Evet

Özet

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.