Dysregulated alveolar epithelial cell progenitor function and identity in Hermansky-Pudlak syndrome.

Hermansky-Pudlak syndrome (HPS) is a genetic disorder of endosomal protein trafficking associated with pulmonary fibrosis in specific subtypes, including HPS-1 and HPS-2. Single mutant HPS1 and HPS2 mice display increased fibrotic sensitivity while double mutant HPS1/2 mice exhibit spontaneous fibrosis with aging, which has been attributed to HPS mutations in alveolar epithelial type II (AT2) cells. We utilized HPS mouse models and human lung tissue to investigate mechanisms of AT2 cell dysfunction driving fibrotic remodeling in HPS.

Molecular basis of platelet granule defects.

Platelets are small, discoid, anucleate blood cells that play key roles in clotting and other functions involved in health and disease. Platelets are derived from bone marrow-resident megakaryocytes, which undergo a complex developmental process where they increase dramatically in size and produce an abundance of organelles destined for platelets. These organelles include mitochondria, lysosomes, peroxisomes and two unique types of secretory organelle: α and dense (δ) granules.

Granulomatous Colitis Due to Hermansky-Pudlak Syndrome.

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder characterized by oculocutaneous albinism, bleeding diathesis, and multiorgan involvement. Granulomatous enterocolitis may occur in a subset of patients. Distinguishing HPS from other diseases such as Crohn's disease can be challenging, and managing HPS-associated colitis is complex.

Pathogenesis and Therapy of Hermansky-Pudlak Syndrome (HPS)-Associated Pulmonary Fibrosis.

Hermansky-Pudlak syndrome (HPS)-associated pulmonary fibrosis (HPS-PF) is a progressive lung disease that is a major cause of morbidity and mortality in HPS patients. Previous studies have demonstrated that the HPS proteins play an essential role in the biogenesis and function of lysosome-related organelles (LROs) in alveolar epithelial type II (AT2) cells and found that HPS-PF is associated with dysfunction of AT2 cells and abnormal immune reactions. Despite recent advances in research on HPS and the pathology of HPS-PF, the pathological mechanisms underlying HPS-PF remain poorly understood, and no effective treatment has been established.

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.

Hermansky-Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis of Lysosome-related Organelles Complexes), and the subunits of the AP-3 complex (adaptor protein complex). Each has its own clinical features, but they are all characterized by albinism, bleeding disorder, and visual abnormalities.

Histological Findings of ETosis in Hermansky-Pudlak Syndrome with Pulmonary Fibrosis: A Follow-Up Case Report.

Hermansky-Pudlak syndrome (HPS), both alone and in conjunction with pulmonary fibrosis (HPS-PF), is a rare, genetically heterogeneous, autosomal recessive disorder that affects multiple organs, including the lungs. In cases of HPS-PF, pulmonary fibrosis is preceded by local inflammation. We present a case of HPS-PF that exhibited histological evidence of extracellular traps (ETs) ensnaring macrophages, leading to cell death in a process known as ETosis.

Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis.

Hermansky-Pudlak Syndrome is a rare genetic cause of pulmonary fibrosis, associated with albinism, nystagmus, and a bleeding diathesis. Histologically, Hermansky-Pudlak Syndrome Pulmonary Fibrosis (HPS-PF) typically resembles usual interstitial pneumonia (UIP), however radiologically this is not always the case with a range of features described in the current literature. HPS-PF typically occurs earlier in life than idiopathic pulmonary fibrosis (IPF) and there is limited evidence to support the use of antifibrotic therapy.

Hermansky-Pudlak Syndrome: A Rare Congenital Disorder With Interstitial Lung Disease.

Hermansky-Pudlak syndrome (HPS) is a genetic multisystemic disorder with oculocutaneous albinism, granulomatous colitis, bleeding diathesis, and pulmonary fibrosis. Multiple subtypes of HPS exist, with certain types having higher predilection for pulmonary fibrosis. This case report focuses on the demonstration of pulmonary imaging findings seen in a patient.