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.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.