Hermansky-Pudlak syndrome

This is a rare autosomal recessive disorder characterised by:

• albinism
• platelets defects and a bleeding diathesis
• pulmonary fibrosis

There is a defect in subcellular membranes, similar to that seen in the Chediak-Higashi syndrome. The differentiating factor is that this syndrome lacks the presence of abnormal granules in the neutrophils which is the hallmark for Chediak-Higashi.

Death occurs in the third to sixth decades, usually from pulmonary fibrosis.

Reference:

1. Anitha Ajitkumar et al. Chediak-Higashi Syndrome. StatPearls [Internet]. StatPearls Publishing; Treasure Island (FL): January 2025.