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Article

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

Journal of the American Academy of Dermatology - 1 Jul 2006

Ersoy-Evans Sibel, Erkin Gül, Fassihi Hiva, Chan Ien, Paller Amy S, Sürücü Selçuk, McGrath John A

Abstract excerpt

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...

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Source

Identifiers

PMID: 16781314
DOI: 10.1016/j.jaad.2005.10.002

Genes

PKP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.PMID 16781314Read ↗

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.Semantic proximity Read ↗

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Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families.Semantic proximity Read ↗

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