Angiokeratomas (overview) D23.L

Heterogeneous group of congenital (naevi) or acquired hemangiomas or vascular ectasias in which the hyperkeratotic, wart-like surface was originally decisive for the naming. However, hyperkeratosis or the wart-like clinical aspect is often not a leading feature or is missing completely. Therefore, a uniform etiological bracket is missing, which defines the generic term "angiokeratome" for this heterogeneous group of agiomas.

Most so-called angiokeratomas are histologically capillary or cavernous hemangiomas or mixed images or, as in the case of scrotal or vulvar angiokeratomas ( Angiokeratoma scroti et vulvae), vascular ectasia.

The aetiological classification of Mibelli's angiokeratoma, which occurs mainly in adolescents on fingers and toes, is not clear.

Angiokeratoma corporis diffusum as well as fucosidosis and beta-mannosidosis are dermatological symptoms of lysosomal storage diseases (lack of alpha- or beta-galactosidase; fucosidase, mannosidase).

The term "angiokeratoma" covers the following clinical pictures:

• Angiokeratoma Mibelli
• Angiokeratoma scroti et vulvae (Fordyce)
• Angiokeratoma, solitary
• Multiple (non-syndromal) angiokeratomas (Calzavara-Pinton)
• Angiokeratoma circumscriptum
• Angiokeratoma, acral pseudolymphomatous of childhood (entity disputed).

Angiokeratomas are observed in the following lysosomal storage diseases or characterize the clinical picture dermatologically:

• Fabry disease (angiokeratoma corporis diffusum, lack of the enzyme alpha galactosidase, mutation in the GLA gene)
• Fucosidosis (absence of the lysosomal enzyme alpha-L-fucosidase, mutation in the FUCA2 gene)
• Beta-mannosidosis
• Aspartylglucosaminuria
• Kanzaki disease (absence of the lysosomal enzyme alpha-N-acetylgalactosaminidase, mutation in the NAGA gene).