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Hermansky-Pudlak syndrome

By JOM Staff


A 58 year-old man from Puerto Rico presented to our clinic in September 2018 for multiple nonhealing wounds on the face and scalp. Physical examination was remarkable for bright blue eyes, numerous lentigines, actinic damage, and decreased pigmentation of the skin, hair, eyebrows, and eyelashes (Figures 1 –3). The patient stated that his hair and skin have been lightly pigmented since birth and began developing brown pigmented lesions during childhood. His past medical history was also remarkable for multiple nonmelanoma skin cancers, easy bruising, nystagmus, and a diagnosis of pulmonary fibrosis in his late 40s that required lung transplantation. Given the patients physical examination findings, he was diagnosed with Hermansky-Pudlak syndrome (HPS). Chemoprevention with nicotinamide was initiated, and he was monitored with regular skin examinations every 3 months thereafter. He was advised to avoid aspirin and NSAIDs given the high risk of platelet dysfunction associated with his condition. The patient was closely followed by our clinic and treated for multiple cutaneous squamous cell carcinomas over the following 2 years, but he was then lost to follow-up.