Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone m...

Cutaneous necrotizing vasculitis (CNV) is characterized by inflammation and tissue damage (necrosis) of blood vessel walls (lumen) and associated skin (cutaneous) lesions. CNV may be a primary disease process or occur as a result of, or in associa...

The WAS-related disorders are a spectrum of conditions affecting the immune system that are caused by mutations in the WAS gene. These disorders include Wiskott-Aldrich syndrome, X-linked thrombocytopenia and X-linked congenital neutropenia. The W...