Angiokeratoma Corporis Diffusum in a Patient With No Recognizable Enzyme Abnormalities

Abstract

Background: Angiokeratoma corporis diffusum is a clinical variant of angiokeratoma that is typically associated with an enzyme deficiency in the metabolism of glycoprotein, most notably Fabry disease, resulting in many other systemic manifestations.Observations: We report a case of angiokeratoma corporis diffusum that did not have an identifiable enzyme deficiency. A review of the literature revealed few similar cases. Conclusion:Angiokeratoma corporis diffusum without recognizable enzyme deficiencies appears to be a distinct clinical entity with a benign course.

A girl of Klippel-Trenaunay Weber syndrome coexistence of recurrent bloody vaginal discharge

“…Angiokeratoma is known to occur in several other diseases related to deficiencies of enzymes that are involved in the metabolism of glycoproteins, including fucosidosis, sialidosis, mannosidosis, GM1 gangliosidosis and Kanzaki disease [11]. Other clinical findings of these diseases were not in our case.…”

Familial angiokeratoma corporis diffusum without identified enzyme defect

“…Electron microscope studies show that, unlike the electron-dense, lamellar (zebra-like) inclusions in endothelial and other cell types characteristic of Fabry disease, electron-lucent lysosomal dilation occurs in other lysosomal storage diseases. [1,6] A literature review showed 20 case reports of angiokeratoma corporis diffusum in the absence of metabolic disorder, and only one other familial case has been reported. [7] Reports are almost evenly split between male and female patients, and most patients are younger than 40 years.…”

“…We hypothesize that angiokeratoma corporis diffusum is always related to a known or unknown enzymatic defect such as an enzymatic polymorphism though the enzyme activity may be in the normal range. [1] …”

Maladie de Fabry : une maladie du métabolisme par déficit d’une enzyme lysosomale (alpha-galactosidase), de transmission héréditaire liée au chromosome X accessible au traitement enzymatique de substitution

“…Ils se rencontrent dans d'autres lipidoses, et ont été décrits chez un patient sans déficit enzymatique identifié [12]. L'absence des angiokératomes n'exclut pas le diagnostic de la maladie de Fabry.…”