Genital angiokeratoma in a woman with Fabry disease: the dermatologist's role
An. bras. dermatol
;
93(3): 426-428, May-June 2018. graf
Article
Dans Anglais
| LILACS
| ID: biblio-949873
ABSTRACT
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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Tumeurs cutanées
/
Tumeurs de la vulve
/
Maladie de Fabry
/
Angiokératome
Type d'étude:
Etude diagnostique
/
Étude pronostique
/
Étude de dépistage
Limites du sujet:
Femelle
/
Humains
langue:
Anglais
Texte intégral:
An. bras. dermatol
Thème du journal:
Dermatologie
Année:
2018
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Hospital do Servidor Público Municipal de São Paulo/BR
/
Universidade Federal de São Paulo/BR
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