Article
Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.
Pediatric dermatology - 1 Nov 2017
Loredana Asztalos Manuela, Schafernak Kristian T, Gray Jayla, Berry Adam, Paller Amy S, Mancini Anthony J
Abstract excerpt
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...
Topics
- Blood Platelets
- Diagnosis, Differential
- Hermanski-Pudlak Syndrome
- Humans
- Infant
- Male
- Membrane Proteins
- Mutation