A Case Report of Hermansky-Pudlak Syndrome

Abstract

Background & aim: Hermansky-Podlock Syndrome (HPS) is a rare autosomal recessive disease caused by major defects in protein trafficking. HPS is characterized by ocular cutaneous albinism, the absence of dense platelet granules, and the resulting bleeding diathesis. Therefore, due to the rarity of Hermansky-Podlock syndrome, the aim of the present study was to report a case of this disease. Case Report: Case was a term male neonate with Hermansky-Pudlak syndrome, born of a 28-year-old mother. On initial examination by a pediatrician, oculo-cutaneous albinism was observed with nystagmus and bruising of the cheek. Conclusion: The request for a thrombocytopenia count of the infant was confirmed to be due to thrombocytopenia. Further efforts were made to educate the infant's family to take action for skin care through consultation with dermatologists to prevent infection.

Keywords

• hermansky-pudlak
• albinism
• hps