Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics.

Background: Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease, caused by defects of the alpha-galactosidase A (GLA) gene. AFD can affect the heart, brain, kidney, eye, skin, peripheral nerves, and gastrointestinal tract. Cardiology (hypertrophic cardiomyopathy), neurology (cryptogenic stroke), and nephrology (end-stage renal failure) screening studies suggest the prevalence of GLA variants is 0.

Identification and quantification of macrophage presence in coronary atherosclerotic plaques by optical coherence tomography.

Aims: Vulnerable plaques are characterized by a high macrophage content. We investigated the optical coherence tomography (OCT) capability of identifying coronary plaque macrophage presence using tissue property indexes.

Methods And Results: Fifteen epicardial coronary arteries were imaged by OCT and subsequently analysed by histology.

Glomuvenous malformations with smooth muscle and eccrine glands: unusual histopathologic features in a familial setting.

Glomuvenous malformations (OMIM 138000) are hamartomas presenting in childhood as multiple, bluish papules and nodules in the skin, which are characterized histopathologically by irregular vascular spaces surrounded by typical glomus cells. Glomuvenous malformations are caused by autosomal dominant mutations of the GLMN gene. A 34-year-old woman and her 16-year-old son presented with bluish papules and nodules since childhood.