OUP user menu

Familial Pulmonary Fibrosis Associated with Oculocutaneous Albinism and Platelet Function Defect A New Syndrome

DOI: http://dx.doi.org/ 219-232 First published online: 1 April 1976


A family was studied in which four siblings had oculocutaneous albinism. In three of these a platelet function defect characterized by poor response to collagen was found. The fourth had previously died from cryptogenic fibrosing alveolitis. Two of the survivors had cryptogenic fibrosing alveolitis and the third had physiological lung function disturbance. Bone marrow examination of one showed pigment laden macrophages (Hermansky-Pudlak Syndrome). Three other normally pigmented family members were found to have normal platelets and no evidence of cryptogenic fibrosing alveolitis, although one had pulmonary disease attributable to occupational dust exposure. To elucidate the aetiological factors involved, three unrelated normally pigmented patients with known platelet function defect were studied. One proved to have cryptogenic fibrosing alveolitis. Four unrelated albinos were also studied and had normal lungs and platelets. It is suggested that, in addition to the known association between platelet function defect and albinism, there is an association between a platelet function defect and cryptogenic fibrosing alveolitis.

    Sign in

    Log in through your institution

    Sign in as a personal subscriber

    Log in through your institution

    Purchase a personal subscription