Diagnostic usefulness of bronchoalveolar lavage in Hermansky-Pudlak syndrome: a case with double lung cancers.

A 65-year-old man was admitted to our hospital because of dyspnea on exertion. He had oculocutaneous albinism innately and his parents were consanguineous. His chest roentgenogram on admission showed reticulo-nodular infiltrates and cystic changes throughout both lung fields, and 7 cm mass in the left middle field. Cytology of bronchoalveolar lavage fluid (BALF) revealed macrophages containing ceroid. The diagnosis of HPS was made clinically and the tumor was diagnosed as poorly differentiated adenocarcinoma of the lung. He died of respiratory failure. By autopsy, additional well-differentiated adenocarcinoma was detected. Cytology of BALF was useful to confirm ceroid accumulation in the lung.