Clinical study
Porphyria cutanea tarda: Clinical features and laboratory findings in 40 patients

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Abstract

Clinical and laboratory findings in 40 patients with porphyria cutanea tarda observed for periods ranging from four months to seven years are presented. These data indicate alterations in the previously established typical patient profile as well as in the factors associated with the development of porphyria cutanea tarda. Earlier age at onset, diminution of alcohol ingestion as the major etiologic factor and an increased incidence in females suggest new environmental influences. Aside from ethanol, use of estrogens for oral contraception, for postmenopausal symptoms or for the treatment of prostatic carcinoma was the most frequently associated etiologic factor. Cutaneous features in these patients included bullae (85 per cent), increased skin fragility (75 per cent), facial hypertrichosis (63 per cent), hyperpigmentation (55 per cent), sclerodermoid changes (18 per cent) and dystrophic calcification with ulceration (8 per cent). Associated findings included diabetes mellitus (15 per cent), systemic lupus erythematosus (5 per cent), elevated serum iron level (62 per cent) and abnormal liver function test results (60 per cent). Liver biopsy specimens obtained from 34 patients all showed histologic abnormalities. The treatment of choice was phlebotomy. In 32 patients so treated, clinical remissions lasting an average of 30.9 months, were achieved. Ten patients (31 per cent) had a relapse, but second remissions were achieved with additional phlebotomies. Other therapeutic modalities utilized included chloroquine and plasmapheresis.

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    This work was supported in part by grants from the National Institute of Arthritis, Metabolism and Digestive Disease (5T32 AM07171, 5R01 AM 18549), and the NIH Environmental Health Sciences (5R01 ES01041-06 and ES 1900-02), and the NIH Division of Research Resources General Clinical Research Centers Branch (M01RROOG45), and the National Foundation Grant I-350.

    1

    From the Department of Dermatology, Columbia-Presbyterian Medical Center, New York, New York.

    2

    From the Division of Dermatology, Case Western Reserve University, Cleveland, Ohio.

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