A Case of Hermansky-Pudlak Syndrome with Malignant Melanoma

Abstract

A 48-year-old man presented with marked hypopigmentation. He came to our hospital because of exertional dyspnea, and he was diagnosed with nonspecific interstitial pneumonia by biopsy. We thought that he was suffering from Hermansky-Pudlak syndrome due to his albinism and agnogenic interstitial pneumonia. His bleeding time was prolonged and his platelet aggregation activity was low. We confirmed the diagnosis by identifying a mutation in HPS1 through a genetic examination. Two years after the first medical examination, one brown nodule appeared on the lower part of his pinna. He was diagnosed with malignant melanoma from an excisional biopsy. However, we could only perform extended resection because of his poor respiratory state, and he died after 6 months. Albinism such as Hermansky-Pudlak syndrome is associated with a high risk of skin cancer caused by ultraviolet radiation, but there have been few reports of malignant melanoma with this syndrome.