Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

ABSTRACT: Systemic lupus erythematosus is a prototypic autoimmune disease. Apart from rare monogenic deficiencies of complement factors, where lupuslike disease may occur in association with other autoimmune diseases or high susceptibility to bacterial infections, its etiology is multifactorial in nature. Cutaneous findings are a hallmark of the disease and manifest either alone or in association with internal-organ disease. We describe a novel genodermatosis characterized by painful bluish-red inflammatory papular or nodular lesions in acral locations such as fingers, toes, nose, cheeks, and ears. The lesions sometimes appear plaquelike and tend to ulcerate. Manifestation usually begins in early childhood and is precipitated by cold and wet exposure. Apart from arthralgias, there is no evidence for

SUBMITTER: Lee-Kirsch MA 

PROVIDER: S-EPMC1592563 | biostudies-literature | 2006 Oct

REPOSITORIES: biostudies-literature