title: Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria.
abstract: Angiokeratoma corporis diffusum (ACD), initially considered to be synonymous with Fabry's disease, represents a well-known cutaneous marker of some other lysosomal enzyme disorders. Aspartylglucosaminuria (AGU) is a rare hereditary disorder mostly affecting the Finnish population, with only a few sporadic patients of non-Finnish origin. To date, only three patients with AGU have been reported with cutaneous lesions of ACD. A 19-year-old Spanish woman presented with a 10-year history of progressive ACD affecting the limbs, buttocks and trunk. After the age of 6 years she had developed progressive mental deterioration, coarse facies and macroglossia with a scrotal appearance. Peripheral blood smears showed many vacuolated lymphocytes. Enzyme analysis in cultured fibroblasts revealed a decreased activity of aspartylglucosaminidase. By the age of 31 years the patient had developed a bipolar psychosis, polycystic ovarian disease and severe impairment of cognitive skills. This is the first case of AGU detected in a Spanish patient presenting with cutaneous lesions of ACD. To our knowledge, macroglossia with a scrotal appearance and polycystic ovarian disease have not been reported in previous cases of AGU.
mesh_terms: D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine*; D000328:Adult; D054880:Aspartylglucosaminuria; D018450:Disease Progression; D000795:Fabry Disease / Q000652:urine*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008260:Macroglossia / Q000652:urine; D012873:Skin Diseases, Genetic / Q000652:urine*
chemical_list: C000009:N-acetylglucosaminylasparagine; D000117:Acetylglucosamine