Results: 5

Verrucous hemangioma and histopathological differential diagnosis with angiokeratoma circumscriptum neviforme

An. bras. dermatol; 93 (5), 2018
Abstract: Verrucous hemangioma is a rare vascular skin disorder with an immune profile similar to vascular neoplasms, but with behavior and evolution of vascular malformations. Its main differential diagnosis is angiokeratoma circumscriptum neviforme, with an almost indistinguishable clinical presentatio...

Genital angiokeratoma in a woman with Fabry disease: the dermatologist's role

An. bras. dermatol; 93 (3), 2018
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 h...

Evaluación de pacientes con enfermedad de Fabry en la Argentina

Medicina (B.Aires); 70 (1), 2010
La enfermedad de Fabry es un desorden lisosomal de transmisión ligada al cromosoma X debida al déficit de la enzima alfa galactosidasa A, con acumulación multisistémica de globotriaosilceramida y compromiso neurológico, gastrointestinal, cardíaco, renal, dermatológico y oftalmológico. Estudios re...