title: Essential fatty acid deficiency mimicking porphyria cutanea tarda in a patient with chronic cholestasis.
abstract: Essential fatty acid deficiency was documented in a 3-year-old boy with chronic cholestasis secondary to paucity of intrahepatic bile ducts (Alagille's syndrome). Dietary management had consisted almost exclusively of a proprietary formula with over 80% of the fat as medium-chain triglycerides. The bullous lesions involved mostly sun-exposed areas and were diagnosed initially as being compatible with acquired porphyria cutanea tarda. Improvement followed correction of the fatty acid abnormalities with a polyunsaturated fat supplement administered orally. We postulate that the association of fatty acid deficiency and abnormal vitamin E status contributed to skin damage, possibly involving photosensitizing compounds poorly cleared by the markedly cholestatic liver.
authors.affiliation: Department of Pediatrics, Columbia University College of Physicians and Surgeons, New York, New York.
authors.forename: J
authors.initials: J
authors.lastname: Levy
authors.forename: A
authors.initials: A
authors.lastname: DeFelice
authors.forename: G
authors.initials: G
authors.lastname: Lepage
mesh_terms: D002675:Child, Preschool; D002779:Cholestasis / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D002908:Chronic Disease; D003951:Diagnostic Errors; D005228:Fatty Acids, Essential / Q000172:deficiency* / Q000627:therapeutic use; D006801:Humans; D008297:Male; D011164:Porphyrias / Q000175:diagnosis*; D012871:Skin Diseases / Q000175:diagnosis*; D014810:Vitamin E / Q000627:therapeutic use; D014811:Vitamin E Deficiency / Q000150:complications* / Q000188:drug therapy
chemical_list: D005228:Fatty Acids, Essential; D014810:Vitamin E