title: [Neurological, dermatological and biological manifestations of porphyria variegata. A study of 3 families of Italian origin in Marseilles area].
abstract: Three kindreds of Italian descent with variegate porphyria are described. These families are now living in Marseilles and surrounding regions. The first kindred originating from Torre del Greco, near Naples, is living in Arles. This family includes two propositi who experienced an acute attack with visceral and neuropsychiatric manifestations. The family's survey was carried out by measuring protoporphyrogen oxidase (PO) activity in lymphocytes (normal values = 4.8 +/- 1.2). Seven of the 20 subjects tested, beside the two propositi, were found to be asymptomatic carriers (PO < 3.6). The first index patient, a 41-year old man, was first observed at the age of 31 with acute and psychiatric manifestations after rifampicin treatment; the cutaneous symptoms appeared one year later. For the second propositus, a woman presenting with abdominal and psychiatric manifestations, the age of onset was 38 years; the acute attack had no recognizable cause; she had mild skin lesions and initially was incorrectly diagnosed as intermittent acute porphyria; the diagnosis of variegate porphyria was only established at the age of 50 years. The second family, originating from la Spezia and Vernazza, is living in Marseilles. The propositus, a 50-year old man, developed cutaneous symptoms at the age of 30. A diagnosis of porphyria cutanea tarda was initially made. The first and unique acute attack with abdominal and neurological manifestations recurred at the age of 41. The diagnosis of variegate porphyria was established on laboratory data. Physical stress was probably the cause of the acute attack. Beside the propositus, out of 9 subjects tested 6 were asymptomatic carriers.(ABSTRACT TRUNCATED AT 250 WORDS)
authors.affiliation: Laboratoire de Biologie de l'hôpital d'Enfants de la Timone, Marseille.
authors.forename: R
authors.initials: R
authors.lastname: Aquaron
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: G C
authors.initials: GC
authors.lastname: Topi
authors.forename: J
authors.initials: J
authors.lastname: Lamoril
mesh_terms: D015746:Abdominal Pain / Q000209:etiology; D000328:Adult; D005260:Female; D005420:Flavoproteins; D005602:France / Q000453:epidemiology; D006801:Humans; D007558:Italy / Q000208:ethnology; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins; D009422:Nervous System Diseases / Q000209:etiology / Q000235:genetics*; D009771:Obsessive-Compulsive Disorder / Q000209:etiology; D010088:Oxidoreductases / Q000097:blood* / Q000378:metabolism; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010375:Pedigree; D017094:Porphyrias, Hepatic / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D011166:Porphyrins / Q000032:analysis; D050768:Protoporphyrinogen Oxidase
chemical_list: D005420:Flavoproteins; D024101:Mitochondrial Proteins; D011166:Porphyrins; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase
vernacular_title: Manifestations neurologiques, dermatologiques et biologiques de la porphyrie variegata, Etude de trois familles d'origine italienne vivant dans la région marseillaise.