Article
Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1.
Experimental dermatology - 1 Apr 2002
Hamada T, South A P, Mitsuhashi Y, Kinebuchi T, Bleck O, Ashton G H S, Hozumi Y, Suzuki T, Hashimoto T, Eady R A J, McGrath J A
Abstract excerpt
We report a 42-year-old Japanese man with an unusual autosomal recessive genodermatosis. The clinical features comprised normal skin at birth, loss of scalp hair at 3-months of age after a febrile illness, progressive nail dystrophy during infancy, palmoplantar keratoderma starting around the age of 18 years and trauma-induced skin fragility and blisters noted from the age of 20 years. Skin biopsy of rubbed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.