Immunohistologic Abnormalities of the Microfibrillar-Fiber System in the Marfan Syndrome

Abstract

Indirect-immunofluorescence studies of skin and cultured dermal fibroblasts from patients with the Marian syndrome demonstrate apparent deficiency of one element of connective tissue — the microfibrillar-fiber system — in assays using specific antibodies against fibrillin, a major microfibrillar protein. This study was designed to test whether these immunostaining abnormalities are consistent and diagnostic features of the disease.