title: Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient.
abstract: Variegate porphyria (VP) is an autosomal dominant disease caused by mutations of the protoporphyrinogen oxidase (PPOX) gene. This porphyria has unique characteristics which can induce acute neurovisceral attacks and cutaneous lesions that may occur separately or together. We herin report a 58-years-old VP patient complicated with cholelithiasis. A sequencing analysis indicated a novel c.40G>C mutation (p.G14R) in the PPOX gene. His cutaneous photosensitivity had been worsening for 3 years before the emergence of cholecystitis and it then gradually improved after cholecystectomy and ursodeoxycholic acid treatment with a slight decline in the porphyrin levels in his blood, urine and stool. In VP patients, a worsening of photosensitivity can thus be induced due to complications associated with some other disease, thereby affecting their porphyrin-heme biosynthesis.
authors.affiliation: Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Japan.
authors.forename: Shinji
authors.initials: S
authors.lastname: Susa
authors.forename: Fumiko
authors.initials: F
authors.lastname: Sato-Monma
authors.forename: Kouta
authors.initials: K
authors.lastname: Ishii
authors.forename: Yurika
authors.initials: Y
authors.lastname: Hada
authors.forename: Kaoru
authors.initials: K
authors.lastname: Takase
authors.forename: Kyoko
authors.initials: K
authors.lastname: Tada
authors.forename: Kiriko
authors.initials: K
authors.lastname: Wada
authors.forename: Wataru
authors.initials: W
authors.lastname: Kameda
authors.forename: Kentaro
authors.initials: K
authors.lastname: Watanabe
authors.forename: Toshihide
authors.initials: T
authors.lastname: Oizumi
authors.forename: Tamio
authors.initials: T
authors.lastname: Suzuki
authors.forename: Makoto
authors.initials: M
authors.lastname: Daimon
authors.forename: Takeo
authors.initials: T
authors.lastname: Kato
mesh_terms: D002763:Cholecystectomy; D002769:Cholelithiasis / Q000150:complications* / Q000628:therapy; D005260:Female; D006801:Humans; D008297:Male; D010787:Photosensitivity Disorders / Q000209:etiology* / Q000628:therapy; D046350:Porphyria, Variegate / Q000150:complications* / Q000503:physiopathology*; D050768:Protoporphyrinogen Oxidase
chemical_list: D050768:Protoporphyrinogen Oxidase