Ectodermal dysplasia–skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1 - 09/08/11
, Gül Erkin, MD a, Hiva Fassihi, MRCP (UK) b, Ien Chan, MD b, Amy S. Paller, MD c, Selçuk Sürücü, MD d, John A. McGrath, MD b
Correspondence to: Sibel Ersoy-Evans, MD, Hacettepe University Faculty of Medicine, Department of Dermatology, Sihhiye, Ankara, 06100, Turkey.Ankara, Turkey; London, United Kingdom; and Chicago, Illinois
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.
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| Funding sources: Laboratory research funding from the Dystrophic Epidermolysis Bullosa Research Association (DebRA, UK) and the National Foundation for Ectodermal Dysplasias is gratefully acknowledged. Conflicts of interest: None identified. Reprints not available from the authors. |
Vol 55 - N° 1
P. 157-161 - juillet 2006 Retour au numéro
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