Variegate porphyria : Clinical and laboratory features - 07/10/17

Doi : 10.1016/S0190-9622(80)80290-8

Timothy J. Corey, M.D. ^{^{1
From the Department of Dermatology, Columbia University College of Physicians and Surgeons, New York (Drs. Corey and Poh-Fitzpatrick), and the Department of Dermatology, Ochsner Clinic, New Orleans (Drs. DeLeo and Christianson).}}, Vincent A. DeLeo, M.D. ^{^{1
From the Department of Dermatology, Columbia University College of Physicians and Surgeons, New York (Drs. Corey and Poh-Fitzpatrick), and the Department of Dermatology, Ochsner Clinic, New Orleans (Drs. DeLeo and Christianson).}}, Herbert Christianson, M.D. ^{^{1
From the Department of Dermatology, Columbia University College of Physicians and Surgeons, New York (Drs. Corey and Poh-Fitzpatrick), and the Department of Dermatology, Ochsner Clinic, New Orleans (Drs. DeLeo and Christianson).}}, Maureen B. Poh-Fitzpatrick, M.D. ^⁎,^{^{1
From the Department of Dermatology, Columbia University College of Physicians and Surgeons, New York (Drs. Corey and Poh-Fitzpatrick), and the Department of Dermatology, Ochsner Clinic, New Orleans (Drs. DeLeo and Christianson).}}
^a New York, NY
^b New Orleans, LA

^*Reprint requests to: Dr. M. B. Poh-Fitzpatrick, Department of Dermatology, 630 W. 168th St., New York, NY 10032.

Résumé

Variegate porphyria (VP) is a rare disease infrequently diagnosed in the United States. The typical cutaneous signs of VP, including fragility, bullae, scarring, hypertrichosis, and photosensitivity, are indistinguishable from those of porphyria cutanea tarda (PCT). Inadequate laboratory evaluation of porphyrins present in, or improper interpretation of porphyrin test results from, biologic specimens from patients with VP may lead to inappropriate diagnosis and treatment. Clinical and laboratory data for three such cases of VP are presented. A plasma porphyrin fluorescence criterion which appears specific for patients with VP was observed in all three cases.

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