Hermansky Pudlak Syndrome and Pulmonary Alveolar Proteinosis at the same patient: first case report in the world literature.

[oculocutaneous albinism]

Hermansky-Pudlak Syndrome (HPS ) is a rare autosomal recessive disorder presenting with oculocutaneous albinism , bleeding diathesis and lysosomal accumulation of ceroid lipofuscin which leads to interstitial fibrosis in lung . Pulmonary fibrosis which is usually associated with HPS -1 and HPS -4 subtypes usually manifests in the third /fourth decades of life representing with giant lamellar bodies of alveolar type -II -cells and their apparent degeneration causes restrictive lung disease . Pulmonary manifestation of this syndrome may lead to premature death . Pulmonary Alveolar Proteinosis (PAP ) is another rare disease characterized by alveolar deposition of surfactant phospholipids and proteins secondary to defective clearance by alveolar macrophages . PAP may occur as autoimmune diseases and /or secondary to toxic inhalation , systemic infections or hematological disorders . None of the cases were reported secondary to HPS according to the best our knowledge . As well , pulmonary involvement of HPS was never reported as PAP . We report the first case of PAP in a patient with HPS .