Hermansky-Pudlak Syndrome Type 2: A Case Report on an Ultra-Rare Disorder

Hermansky-Pudlak syndrome (HPS) is an infrequent entity, with a multisystem involvement and autosomal recessive inheritance involving genetic mutations that lead to defective organelles of lysosomes. HPS is characterized by oculocutaneous albinism, platelet storage deficiency associated with prolonged bleeding, pulmonary fibrosis, and granulomatous colitis. In our case report, we describe a two-year-old boy with the clinical presentation of oculocutaneous albinism, generalized skin lesions, and recurrent bilateral epistaxis since the age of one year. He was diagnosed with HPS type 2 based on the clinical findings and supported by a genetic study that confirmed the loss of exon 23-24 of the AP3B1 gene.