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JPAD-Journal of Pakistan Association of Dermatologists. 2013; 23 (3): 327-330
en Inglés | IMEMR | ID: emr-142946

RESUMEN

Angiokeratoma corporis diffusum [ACD] is a variety of angiokeratoma, characterized by diffuse cutaneous hyperkeratotic vascular lesions. ACD is usually associated with many lysosomal enzyme deficiencies, though it is not a rule. It is associated with systemic features along with skin lesions. It may also present as isolated cutaneous form. X-linked recessive form usually manifests in males and females act as carriers. We report a case of ACD without systemic features in a young Kashmiri female.


Asunto(s)
Humanos , Femenino , Enfermedad de Fabry/enzimología , Enfermedades por Almacenamiento Lisosomal , alfa-L-Fucosidasa/análisis , Angioqueratoma
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