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Hepatoerythropoietic porphyria in a woman with short stature and deformed hands

✍ Scribed by Fujimoto, Atsuko ;Brazil, James L.

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 392 KB
Volume: 44
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320440423

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✦ Synopsis

A 23-year-old woman from Honduras was diagnosed to have hepatoerythropoietic porphyria. She had photosensitive skin of early onset, hypertrichosis, and severe sclerodermalike lesions of the hands. Erythrocyte uroporphyrinogen decarboxylase activity was reduced to about 10% of the normal activity.

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