Galactosialidosis is an autosomal recessive lysosomal storage disorder characterized by a combined deficiency of b- galactosidase and a-neuraminidase, due to a defect of another lysosomal protein, cathepsin A. The latter, ...

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 ...

The authors describe a case of a female patient with Acral Pseudolymphomatous Angiokeratoma of Children, known as APACHE. It is a rare benign cutaneous disease, of unknown etiology, characterized by multiple, asymptomatic ...

The angiokeratoma circunscrito Naeviorme is a vascular malformation, this is present in the superficial dermis, is the rarest of the five variants of angiokeratoma, appears at birth or in the first two decades of life, is ...