title: A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America.
abstract: A 7-year-old Chilean boy presented with severe photosensitivity, blistering, erosions and scarring on sun-exposed areas of the body since the age of 6 months. Additionally, he showed a short stature and shortening of the fingers. Laboratory examination revealed greatly elevated protoporphyrin levels in the blood. Such biochemical findings can be observed in homozygous variants of usually autosomal dominantly inherited acute porphyrias such as variegate porphyria (VP) and hereditary coproporphyria, which usually do not become manifest before the second or third decade of life in heterozygotes. Using polymerase chain reaction-based techniques we identified a missense mutation in exon 7 on the paternal allele and a frameshift mutation in exon 13 on the maternal allele of the protoporphyrinogen oxidase gene that harbours the mutations underlying VP. This is the first homozygous case of VP in South America. As VP represents the most frequent type of acute porphyria not only in Chile but also in South Africa, more such cases could be expected in the future, particularly because a founder mutation for this disease has already been described in the Chilean and South African population.
authors.affiliation: Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands. ppg@sder.azm.nl
authors.forename: P
authors.initials: P
authors.lastname: Poblete-Gutiérrez
authors.forename: C
authors.initials: C
authors.lastname: Wolff
authors.forename: R
authors.initials: R
authors.lastname: Farias
authors.forename: J
authors.initials: J
authors.lastname: Frank
mesh_terms: D002648:Child; D002677:Chile / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005385:Fingers / Q000002:abnormalities*; D016368:Frameshift Mutation / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010787:Photosensitivity Disorders / Q000235:genetics; D010859:Pigmentation Disorders / Q000235:genetics / Q000473:pathology; D046350:Porphyria, Variegate / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D050768:Protoporphyrinogen Oxidase / Q000235:genetics*; D011524:Protoporphyrins / Q000032:analysis
chemical_list: D011524:Protoporphyrins; D050768:Protoporphyrinogen Oxidase