Hong Kong Dermatology & Venereology Bulletin

Volume 11 Number 1, Spring 2003
Abstract

Variegate porphyria: an unusual cause of skin blistering
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KN Hui \a

Variegate porphyria (VP) is an autosomal dominant disorder caused by a partial deficiency of the haem synthesis enzyme protoporphyrinogen oxidase. The gene sequence has been cloned and mapped to chromosome 1q22-23. VP is highly prevalent in South Africa but uncommon among Chinese. VP can present with skin manifestations, acute neurovisceral attack or both. This report documented a young Chinese lady with VP presenting with skin manifestations only. (H.K. Dermatol. Venereol. Bull. (2003) 11, 20-24)

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Keywords : Chinese, variegate porphyria

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