Angiokeratomas, not everything is fabry disease
No hay miniatura disponible
Fecha
Título de la revista
Publicado en
International Journal of Dermatology, 0011-9059, Vol 58, Num 6, pag 713-721
Publicado por
Wiley
URL de la fuente
Enlace a contenidos multimedia
ISSN de la revista
Título del volumen
Resumen
Descripción
Abstract
Introduction
Angiokeratoma corporis diffusum are benign capillary malformations typically associated with Fabry disease and other lysosomal storage disorders. Only in a few cases they appear in healthy individuals.
Methods and Case
We carried out an exhaustive review of the literature on angiokeratomas and their main clinical, dermoscopy and histological features. Additionally, we reviewed the cases of healthy subjects illustrating the limitations of each case and comparing these results with our case.
Discussion
Angiokeratoma corporis diffusum is mostly related to Fabry disease and other lysosomal storage disorders. However, some cases may occur in apparently healthy individuals. Therefore, there is a increasing interest in its etiology, pathogenesis and clinical evaluation.
Conclusion
This is an academic–clinical review on angiokeratomas and their main implications in daily dermatological practice. Additionally, we report the first case in the literature of angiokeratoma corporis diffusum in a healthy patient with up‐to‐date laboratory methods currently available. The clinician should remember that not all angiokeratoma corporis diffusum occurs with lysosomal storage disorders.
Palabras clave
Keywords
Temáticas
Enfermedad de Fabry
Enfermedades por almacenamiento lisosomal del sistema nervioso
Neoplasias de tejido vascular
Enfermedades por almacenamiento lisosomal del sistema nervioso
Neoplasias de tejido vascular