Eccrine angiokeratomatous hamartoma combined with solitary angiokeratoma or verrucous venous malformation: Report of two cases and comprehensive review of the literature.

First reported in 2006, eccrine angiokeratomatous hamartoma is a very rare vascular malformation of the skin, with only few described cases. It has a peculiar histopathology with features deriving from the combination of two different vascular malformations of the skin: solitary angiokeratoma and eccrine angiomatous hamartoma. In the past, other authors described similar hamartomatous lesions with features deriving from verrucous venous malformation and eccrine angiomatous hamartoma. We believe that these lesions are clearly overlapping from clinical, histopathological, and immunohistochemical points of view and the term "eccrine angiokeratomatous hamartoma" should be used to indicate the whole spectrum of these lesions as suggested by Kanitakis et al. Herein we present two cases of this rare vascular hamartoma, with clinical, histopathological and immunohistochemical characterization. In addition, for the first time we report a complete and detailed review of the literature to clarify the clinical, epidemiological, and histopathological features of this unique entity.

Blue rubber bleb nevus syndrome associated with diffuse angiokeratoma.

We report a case of the association of blue rubber bleb nevus syndrome with diffuse angiokeratoma, without any evidence of enzyme deficiencies. The lesions of both disorders had a late-onset appearance.

[Angiokeratoma and fucosidosis. Immunohistochemical and ultrastructural study]. / Angiokératomes et fucosidose. Etude immunohistochimique et ultrastructurale.

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.

Angioma serpiginoso: a propósito de un caso / Angioma serpiginosum: case report

Presentamos un caso de Angioma serpiginoso(AS) en una niña de 8 años de edad, debido a la infrecuente aparición de esta enfermedad. El cuadro clínico y los hallazgos histopatológicos cumplen con los criterios diagnósticos propuestos. Se comentan los distintos aspectos de la entidad, con mayor énfasis en lo referente al diagnóstico diferencial con la Púrpura Pigmentosa Crónica, el Angioqueratoma Circunscripto Neviforme y el Nevus Flammeus

Angioma serpiginoso: a propósito de un caso / Angioma serpiginosum: case report

Presentamos un caso de Angioma serpiginoso(AS) en una niña de 8 años de edad, debido a la infrecuente aparición de esta enfermedad. El cuadro clínico y los hallazgos histopatológicos cumplen con los criterios diagnósticos propuestos. Se comentan los distintos aspectos de la entidad, con mayor énfasis en lo referente al diagnóstico diferencial con la Púrpura Pigmentosa Crónica, el Angioqueratoma Circunscripto Neviforme y el Nevus Flammeus

Scrotal angiokeratoma (Fordyce): histopathological and ultrastructural findings.

Bioptic findings related to four cases of scrotal angiokeratoma-Fordyce, were studied under light and electron microscopy. A particular heterogeneity of the structural and ultrastructural patterns typical of this lesion was thus observed. Light microscopy study pointed out, in particular, different degrees of dilation of papillary vessels, whereas ultrastructural study highlighted marked alterations of endothelial cells with structural and quantitative modifications of cytoplasmic organelles.

Ultrastructure of angiokeratoma vulvae.

A case of vulvar angiokeratoma studied by electron microscopy is described. The patient, a 51-year-old woman, had noticed eruptions for the last 15 years, though without symptoms. Osmiophilic bodies with myelin-like figures were found in the vascular endothelial cells. The findings support previous opinion that vulvar angiokeratoma is a variant of scrotal angiokeratoma.

Fucosidosis with angiokeratoma. Electron microscopic changes in the skin.

An electron microscopic investigation was performed on the skin from three patients suffering from fucosidosis accompanied by diffuse angiokeratoma. Storage of fucose containing substances was represented by the following two kinds of cytosomes: lamellated bodies, found in Schwann cells and myoepithelial cells of sweat glands and membrane-bound vacuoles, located in various other cellular elements of the skin. Storage in endothelial cells caused narrowing or occlusion of some dermal blood vessels; in the papillary plexus, angiectasis was the result. Extensive vacuolation of the secretory cells of sweat glands could account for hypohydrosis. The characteristic distribution of cytosomes in various kinds of cells is helpful in differentiating fucosidosis from some other storage diseases on the basis of skin biopsy.