Resumo

CONESA, MV et al. FABRY DISEASE. Rev. argent. dermatol. [online]. 2019, vol.100, n.1, pp.78-85. ISSN 1851-300X.

Fabry disease is a hereditary, lysosomal storage disorder linked to the X chromosome, caused by the deficiency of the enzyme alpha galactosidase A.

It presents a great clinical variability due to multisystemic affection in an unspecific way. For this reason, the diagnosis of the disease is difficult and often delayed.

The cutaneous manifestations of this pathology, have an important role in the early diagnosis of the disease, since it allows the use of opportune enzymatic replacement treatment, as well as the adequate genetic counseling.

Palavras-chave : Fabry disease; multisystemic affection; enzyme deficit.