Fabry disease: clinical and genotypic aspects of three cases in first degree relatives

Abstract

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 life expectancy. Angiokeratomas are asymptomatic lesions present as the initial manifestation and usually less appreciated. Their detection is important for early diagnosis and institution of treatment with enzyme replacement therapy, which prevents late complications reducing morbidity and mortality. We report a case of a male teenager with acroparestesias and angiokeratomas. Family medical research discovered that his mother and brother had similar signs and symptoms and that the three patients had the same mutation in the gene encoding the enzyme, confirming the diagnosis.

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

“…Women rarely present AKs on the trunk and genital regions. 2 In a Medline and Embase database review, we did not find any similar cases in the literature till present.…”

“…Fabry disease (FD) is a rare storage disorder, first described in 1898 as angiokeratoma corporis diffusum by Anderson and Fabry. 1 , 2 Subsequently, it was described as a systemic metabolic disease, affecting cells of the vascular endothelium, smooth muscle, myocardium, renal epithelium and central nervous system. The time between the onset of symptoms and the diagnosis can be longer than 10 years.…”

Screening for Fabry Disease in Kidney Disease: a Cross-Sectional Study in Males and Females

“…The importance of early diagnosis to begin treatment as early as possible has been reported [17, 25-28]. Zarate and Hopkin (2008) reported that there is no known ethnic predisposition for FD but that there are some regional pockets with higher FD incidence, including Nova Scotia in Canada and Virginia in the USA [4].…”

Porokeratosis ptychotropica: a rare manifestation with typical histological exam

“… 2 , 3 In dermoscopy of verruca vulgaris, papillomatosis and dilation of the capillaries of the dermal papillae are observed, and hyperkeratosis may be evidenced according to the clinical presentation of the lesion. 4 In the case of porokeratosis ptychotropica, only hyperkeratosis was observed and the other components of the viral warts were missing.…”