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