title: Familial porphyria cutanea tarda in a patient with retinitis pigmentosa.
abstract: The patient in this report had typical retinitis pigmentosa which apparently was of recessive inheritance. In addition, she had an exacerbation of porphyria cutanea tarda (PCT) while taking oral contraceptives. In view of the lack of evidence for hereditary transmission of PCT it is also of interest that the patient's mother had an exacerbation of PCT while taking estrogenic medication.
mesh_terms: D000328:Adult; D003276:Contraceptives, Oral / Q000009:adverse effects*; D004966:Estrogens, Conjugated (USP) / Q000009:adverse effects; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008875:Middle Aged; D009755:Night Blindness / Q000150:complications; D011164:Porphyrias / Q000139:chemically induced / Q000175:diagnosis / Q000235:genetics*; D011166:Porphyrins / Q000652:urine; D011241:Prednisone / Q000627:therapeutic use; D012174:Retinitis Pigmentosa / Q000150:complications* / Q000175:diagnosis
chemical_list: D003276:Contraceptives, Oral; D004966:Estrogens, Conjugated (USP); D011166:Porphyrins; D011241:Prednisone