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1.
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
2.
JPAD-Journal of Pakistan Association of Dermatologists. 2013; 23 (3): 338-340
en Inglés | IMEMR | ID: emr-142949

RESUMEN

Blue rubber bleb nevus syndrome [BRBNS] is a rare condition with lesions in skin and/or other visceral organs, predominantly gastrointestinal tract. The condition is not fatal, unless associated with systemic involvement. BRBNS can also present as cutaneous lesions only. We report a classical case of BRBNS in zosteriform distribution, involving C6 and C7 dermatomes, in an adult Kashmiri male, a rare presentation.


Asunto(s)
Humanos , Masculino , Nevo Pigmentado/genética , Neoplasias Primarias Múltiples , Neoplasias del Sistema Digestivo , Neoplasias Cutáneas , Diagnóstico Diferencial
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