Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review.
Fucosidosis is a rare lysosomal storage disease due to alpha-L-fucosidase deficiency. It presents clinically with neurological, skeletal, and cutaneous findings, including mainly angiokeratoma corporis diffusum. Electronmicroscopic examination reveals characteristic electron-lucent cytoplasmic vacuolization present in several cell types of the skin and other tissues. We present here a new patient suffering from fucosidosis with angiokeratoma, whose normal and diseased skin was studied by lightmicroscopy and electronmicroscopy. The salient clinicopathological features of this disease are briefly reviewed.
Kanitakis
Jean
J
Department of Dermatology (Pav. R), Ed. Herriot Hospital, Lyon, France. jean.kanitikas@chu-lyon.fr
Allombert
Carole
C
Doebelin
Bénédicte
B
Deroo-Berger
Marie-Charlotte
MC
Grande
Sophie
S
Blanc
Sébastien
S
Claudy
Alain
A
D000293:Adolescent; D015415:Biomarkers / Q000378:metabolism; D000795:Fabry Disease / Q000150:complications / Q000201:enzymology / Q000473:pathology*; D005260:Female; D005645:Fucosidosis / Q000150:complications / Q000201:enzymology / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D046529:Microscopy, Electron, Transmission; D012867:Skin / Q000201:enzymology / Q000473:pathology*; D013684:Telangiectasis / Q000473:pathology; D014617:Vacuoles / Q000648:ultrastructure; D005644:alpha-L-Fucosidase / Q000378:metabolism
D015415:Biomarkers; D005644:alpha-L-Fucosidase