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1.
JPAD-Journal of Pakistan Association of Dermatologists. 2013; 23 (3): 327-330
in English | IMEMR | ID: emr-142946

ABSTRACT

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.


Subject(s)
Humans , Female , Fabry Disease/enzymology , Lysosomal Storage Diseases , alpha-L-Fucosidase/analysis , Angiokeratoma
2.
JPAD-Journal of Pakistan Association of Dermatologists. 2013; 23 (3): 338-340
in English | IMEMR | ID: emr-142949

ABSTRACT

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.


Subject(s)
Humans , Male , Nevus, Pigmented/genetics , Neoplasms, Multiple Primary , Digestive System Neoplasms , Skin Neoplasms , Diagnosis, Differential
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