title: Radiological features in congenital erythropoietic porphyria (Gunther's disease). Report of 3 cases.
abstract: Gunther's disease or congenital erythropoietic porphyria is a rare and severe disorder comprising cutaneous and haemolytic symptoms. Photocutaneous lesions are responsible for scleroderma-like calcifications and deformities of the extremities visible on X-rays. Hemolytic manifestations lead to diffuse major osteopenia. Soft tissue calcifications of the fingers can be seen even in young patients. One case reported here is the first illustration of intracranial calcifications located on dura-mater and calvarium.
authors.affiliation: Department of Radiology, Hôpital Louis Mourier, University Xavier Bichat, Colombes, France.
authors.forename: M
authors.initials: M
authors.lastname: Levesque
authors.forename: P
authors.initials: P
authors.lastname: Legmann
authors.forename: A
authors.initials: A
authors.lastname: Le Cloirec
authors.forename: J C
authors.initials: JC
authors.lastname: Deybach
authors.forename: Y
authors.initials: Y
authors.lastname: Nordmann
mesh_terms: D001851:Bone Diseases, Metabolic / Q000000981:diagnostic imaging* / Q000209:etiology; D001842:Bone and Bones / Q000000981:diagnostic imaging*; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D011164:Porphyrias / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography; D012871:Skin Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D013577:Syndrome