PubMed · 5982158
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I A Ionova. 1966. [Diffuse angiokeratoma].. https://pubmed.ncbi.nlm.nih.gov/5982158/
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We report a patient with multiple cutaneous and cerebral haemangiomas associated with angiokeratomas. As far as we are aware this patient is unique as the association of cutaneous and cerebral haemangiomas with angiokeratomas has not been previously described.
INTRODUCTION: Angiokeratoma can lead to diagnoses other than Fabry's disease. We report a case of angiokeratoma in a child with fucosidosis. CASE REPORT: 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. COMMENTS: 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.
The staining pattern of monoclonal antibody anti-HPCA-1 (CD-34) was studied in 95 cases of benign and malignant cutaneous vascular proliferations and compared with other vascular endothelium-associated antigenic markers in paraffin-embedded tissues. The proliferating vessels in 22 cutaneous capillary hemangiomas, 8 lobular capillary hemangiomas, and 1 case of papillary intravascular endothelial hyperplasia stained strongly positively for anti-HPCA-1, and the intensity of the reaction was paralleled by that of factor VIII-related antigen (FVIII), Ulex europaeus lectin-1 (UEA), and vimentin (VIM). The vessels in 10 cases of granulation tissue, 6 cases of cavernous hemangioma, 6 cases of angiokeratoma, 5 cases of angiolymphoid hyperplasia with eosinophilia (epithelioid hemangioma), and 3 cases of bacillary angiomatosis showed a lack of reactivity with anti-HPCA-1 and staining of variable intensity with the other markers. Twenty cases of Kaposi's sarcoma (seven patch, five plaque, eight nodular stage) showed strong labeling with anti-HPCA-1 in small, well-formed vessels scattered among the spindle-cell proliferation, and four of these cases showed focal positivity of scattered spindle cells. Nine cases of cutaneous angiosarcoma, two cases of low-grade epithelioid angiosarcoma, and one case of spindle-cell hemangioendothelioma were negative for anti-HPCA-1 and showed variable reactivity for FVIII and UEA; all cases stained strongly positively for VIM. The results of this study indicate that although anti-HPCA-1 shows a high sensitivity for the staining of normal vascular endothelium, its specificity may be restricted to mature, well-formed vessels, therefore rendering its discriminatory value very limited for the identification of poorly differentiated vascular endothelial neoplasms.