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: Sibel Ersoy-Evans, Gül Erkin, Hiva Fassihi, Ien Chan, Amy S Paller, Selçuk Sürücü, John A McGrath
• Journal: Journal of the American Academy of Dermatology (J Am Acad Dermatol) Vol. 55 Issue 1 Pg. 157-61 (Jul 2006) ISSN: 1097-6787 [Electronic] United States
• PMID: 16781314 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• PKP1 protein, human
• Plakophilins

Topics

• Child
• Ectodermal Dysplasia (genetics, pathology)
• Homozygote
• Humans
• Male
• Mutation
• Plakophilins (genetics)