[Angiokeratoma and fucosidosis. Immunohistochemical and ultrastructural study].
BACKGROUND
Angiokeratoma can lead to diagnoses other than Fabry's disease. We report a case of angiokeratoma in a child with fucosidosis.


METHODS
A 7-year-old child with psychomotor retardation presented angiokeratoma located on the penis. Uptake of type I Ulex Europaeus Agglutinin antilectin antiserum was intense in the endothelial structure. This antibody is specific for alpha-L-fucose residues which were thus found in large quantities in the vacuoles of the ultrastructure. The patient also had a major deficiency in leukocyte, serum and fibroblast alpha-fucosidase.


CONCLUSIONS
This is a typical case of fucosidosis, a rare hereditary disease with autosomal recessive transmission due to generalized deficiency in alpha-L-fucosidase. Diffuse angiokeratosis should suggest, other than Fabry's disease, fucosidase and other enzyme deficiencies including sialidase, GM1 gangliosidase as well as Kanzaki's disease.
Unité de Dermatologie, Centre Hospitalier Général, Saint-Germain en Laye.
P Y
PY
Venencie
C
C
Pauwels
V
V
Malherbe
G
G
Perie
P
P
Landrieu
D000794:Angiokeratoma / Q000209:etiology* / Q000473:pathology / Q000648:ultrastructure; D002648:Child; D005645:Fucosidosis / Q000150:complications* / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D012867:Skin / Q000473:pathology / Q000648:ultrastructure; D012878:Skin Neoplasms / Q000209:etiology* / Q000473:pathology / Q000648:ultrastructure
Angiokératomes et fucosidose. Etude immunohistochimique et ultrastructurale.