title: Fabry disease: clinical and genotypic aspects of three cases in first degree relatives.
abstract: Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy. Angiokeratomas are asymptomatic lesions present as the initial manifestation and usually less appreciated. Their detection is important for early diagnosis and institution of treatment with enzyme replacement therapy, which prevents late complications reducing morbidity and mortality. We report a case of a male teenager with acroparestesias and angiokeratomas. Family medical research discovered that his mother and brother had similar signs and symptoms and that the three patients had the same mutation in the gene encoding the enzyme, confirming the diagnosis.
authors.affiliation: Universidade Federal de São Paulo, Escola Paulista de Medicina, Dermatology Department, Graduate course in clinical dermatology, São PauloSP, Brazil, MD, Dermatologist - Graduate course in clinical dermatology, Dermatology Department, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil.
authors.forename: Letícia Bueno Nunes da
authors.initials: LB
authors.lastname: Silva
authors.affiliation: Universidade Federal de São Paulo, Escola Paulista de Medicina, Dermatology Department, Graduate course in Dermatoscopy, São PauloSP, Brazil, MD, Dermatologist - Graduate course in Dermatoscopy, Dermatology Department, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil.
authors.forename: Thais Cardoso de Mello Tucunduva
authors.initials: TC
authors.lastname: Badiz
authors.affiliation: Universidade Federal de São Paulo, Escola Paulista de Medicina, Dermatology and Pathology departments, São PauloSP, Brazil, MD, PhD - Dermatopathologist at the Dermatology and Pathology departments, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil.
authors.forename: Milvia Maria Simões e Silva
authors.initials: MM
authors.lastname: Enokihara
authors.affiliation: Universidade Federal de São Paulo, Escola Paulista de Medicina, Dermatology Department, São PauloSP, Brazil, MD, PhD - Adjunct Professor of the Dermatology Department, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil.
authors.forename: Adriana Maria
authors.initials: AM
authors.lastname: Porro
mesh_terms: D000293:Adolescent; D000328:Adult; D000794:Angiokeratoma / Q000235:genetics / Q000473:pathology*; D001706:Biopsy; D002648:Child; D042241:Early Diagnosis; D000795:Fabry Disease / Q000235:genetics / Q000473:pathology*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D035781:Siblings; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology*