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 , AngiokeratomaABSTRACT
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.