Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role
Abstract: Fabry disease is a rare lysosomal storage disorder, inherited in an X-linked manner. It is characterized by the deficiency of the enzyme alpha-galactosidase, leading to a buildup of glycosphingolipids in the cells. Angiokeratoma is one of the cutaneous manifestations of this condition, and it helps making the diagnosis. The typical site involves the genital area in men and lumbosacral, buttocks and trunk region in both sexes. We report a case of genital angiokeratoma in a woman with Fabry disease. The diagnosis is through molecular analysis and, when made early, starting treatment reduces the morbidity and mortality of the disease. Thus, the dermatologist has an important role in the identification of angiokeratoma as a cutaneous marker, and the knowledge of its different presentations is essential for the early diagnosis and management of Fabry disease.
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Sociedade Brasileira de Dermatologia
2018
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oai:scielo:S0365-059620180003004262018-08-22Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s roleJesus,Patricia Moraes Resende deMartins,Ana MariaChiacchio,Nilton DiAranda,Carolina Sanchez Angiokeratoma Fabry disease Lysosomal storage diseases Abstract: Fabry disease is a rare lysosomal storage disorder, inherited in an X-linked manner. It is characterized by the deficiency of the enzyme alpha-galactosidase, leading to a buildup of glycosphingolipids in the cells. Angiokeratoma is one of the cutaneous manifestations of this condition, and it helps making the diagnosis. The typical site involves the genital area in men and lumbosacral, buttocks and trunk region in both sexes. We report a case of genital angiokeratoma in a woman with Fabry disease. The diagnosis is through molecular analysis and, when made early, starting treatment reduces the morbidity and mortality of the disease. Thus, the dermatologist has an important role in the identification of angiokeratoma as a cutaneous marker, and the knowledge of its different presentations is essential for the early diagnosis and management of Fabry disease.info:eu-repo/semantics/openAccessSociedade Brasileira de DermatologiaAnais Brasileiros de Dermatologia v.93 n.3 20182018-06-01info:eu-repo/semantics/reporttext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962018000300426en10.1590/abd1806-4841.20187128 |
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Jesus,Patricia Moraes Resende de Martins,Ana Maria Chiacchio,Nilton Di Aranda,Carolina Sanchez |
| spellingShingle |
Jesus,Patricia Moraes Resende de Martins,Ana Maria Chiacchio,Nilton Di Aranda,Carolina Sanchez Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role |
| author_facet |
Jesus,Patricia Moraes Resende de Martins,Ana Maria Chiacchio,Nilton Di Aranda,Carolina Sanchez |
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Jesus,Patricia Moraes Resende de |
| title |
Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role |
| title_short |
Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role |
| title_full |
Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role |
| title_fullStr |
Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role |
| title_full_unstemmed |
Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role |
| title_sort |
genital angiokeratoma in a woman with fabry disease: the dermatologist’s role |
| description |
Abstract: Fabry disease is a rare lysosomal storage disorder, inherited in an X-linked manner. It is characterized by the deficiency of the enzyme alpha-galactosidase, leading to a buildup of glycosphingolipids in the cells. Angiokeratoma is one of the cutaneous manifestations of this condition, and it helps making the diagnosis. The typical site involves the genital area in men and lumbosacral, buttocks and trunk region in both sexes. We report a case of genital angiokeratoma in a woman with Fabry disease. The diagnosis is through molecular analysis and, when made early, starting treatment reduces the morbidity and mortality of the disease. Thus, the dermatologist has an important role in the identification of angiokeratoma as a cutaneous marker, and the knowledge of its different presentations is essential for the early diagnosis and management of Fabry disease. |
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Sociedade Brasileira de Dermatologia |
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2018 |
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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962018000300426 |
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