Prevalence of dermatologic manifestations in patients with Fabry disease in Argentina

Resumen

Abstract: Anderson-Fabry’s disease is a rare X-linked lysosomal storage disorder caused by a deficient activity of  alpha-galactosidase A.
AIM: to document the prevalence of its dermatologic manifestations on patients from Argentina.
Methods: we studied 40 men and 40 women with Fabry’s disease
Diagnosis was coni rmed by blood enzyme assay and genetic tests.
Results: angiokeratomas were present in 82% of male adults, and in 34% of female adults. The most frequent distribution was: in males the periumbilical area, scrotum and penis, buttocks and lips; in female patients the chest , periumbilical region and fingers. Telangiectasia on the oral mucosa were present in 50% of hemizygous and 25% of heterozygous. We found hypohydrosis in 75% of adult males, 31% of adult females, and 18% of female children. We searched for correlations between systemic findings and the presence
of angiokeratomas.
Conclusion: angiokeratomas were the second most frequent manifestation found in our patients. Dermatologic findings were present usually in hemizygous patients, and less frequently seen both in females and in children. We found a high positive correlation between angiokeratomas and other earlier signs and symptoms of Fabry’s disease; therefore we emphasize the role that dermatologists play in early diagnosis

(Dermatol Argent 2008;14(5):362-366).

Key words: Fabry disease; angiokeratoma.