A case of hermansky-pudlak syndrome with pulmonary sarcoidosis

Abstract

Hermansky-Pudlak syndrome is an autosomal recessive disorder of lysosomal storage characterized by the triad of occulocutaneous albinism, bleeding diathesis, and pulmonary fibrosis. Sarcoidosis is a disease characterized by the development of noncaseating granulomas, most commonly affecting the lungs. The pathophysiology, histological findings, clinical symptoms, and treatment of the pulmonary manifestations of Hermansky-Pudlak syndrome are distinct from those of sarcoidosis. As patients with occulocutaneous and bleeding manifestations of Hermansky-Pudlak syndrome may also develop pulmonary fibrosis, the authors present this case to illustrate that pulmonary symptoms must be carefully evaluated in those with this syndrome because in this case, the patient developed underlying pulmonary sarcoidosis. To the authors' knowledge, this is the first documented case of Hermansky-Pudlak syndrome with concomitant pulmonary sarcoidosis.

Figure 1

Diaphanous iris in the patient described in this case.

Figure 2

Lentigines in the tyrosinase-positive HPS patient.