Pediatric Angiokeratinoma Syndrome

Angiokeratinoma syndrome is a sex chromosomal hereditary disease caused by α-galactosidase deficiency. It is mainly manifested by ceramide trihexosylglycosides in all tissues of the body (especially in the endothelium, pericytes and smooth muscle cells of blood vessels). While the reticuloendothelial cells are less affected). Most of the patients are men, and women are the main carriers of morbid genes. This symptom is also known as diffuse body vascular keratin (angiokeratoma corporis diffusm), Fabry syndrome (Fabrys syndrome), Anderson-Fabry syndrome, Sweeley-Klionsky syndrome, Ruiter-Pompen syndrome, diffuse systemic vascular keratinoma glucose and lipid deposition Disease, hemorrhagic microsarcoidosis, etc.