Article
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
The Journal of investigative dermatology - 1 Mar 2009
Holme S Alexander, Whatley Sharon D, Roberts Andrew G, Anstey Alexander V, Elder George H, Ead Russell D, Stewart M Felicity, Farr Peter M, Lewis Helen M, Davies Nicholas, White Marion I, Ackroyd R Simon, Badminton Michael N
Abstract excerpt
Erythropoietic protoporphyria (EPP) is an inherited disorder that results from partial deficiency of ferrochelatase (FECH). It is characterized clinically by acute photosensitivity and, in 2% of patients, liver disease. Inheritance is usually autosomal dominant with low penetrance but is recessive in about 4% of families. A cross-sectional study of 223 patients with EPP in the United Kingdom identified six...
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