Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.
- Manuela Loredana Asztalos,
- Kristian T Schafernak,
- Jayla Gray,
- Adam Berry,
- Amy S Paller,
- Anthony J Mancini
Pediatr Dermatol 2017 Nov 16;34(6):638-646. Epub 2017 Oct 16.
Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by mutations in one of nine genes involved in the packaging and formation of specialized lysosomes, including melanosomes and platelet-dense granules. The cardinal features are pigmentary dilution, bleeding diathesis, and accumulation of ceroid-like material in reticuloendothelial cells. Pulmonary fibrosis induced by tissue damage is seen in the most severe forms, and one subtype is characterized by immunodeficiency. Read More