Hermansky-Pudlak syndrome: report of a case with histological, immunohistochemical and ultrastructural findings.

We report a 38-year-old female of Puerto Rican descent with Hermansky-Pudlak syndrome and decreased levels of von Willebrand factor. Histologic and ultrastructural findings of non-sunexposed skin showed melanocytes with short dendritic processes and decreased numbers of melanosomes. Ultrastructural examination of platelets revealed greatly reduced numbers of delta granules. Recognition of this syndrome is important because skin neoplasms, ceroid deposition and hemorrhagic manifestations can be causes of morbidity and of potential death in patients affected with this syndrome.