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Chedíak-Higashi Syndrome: Hair-to-toe spectrum.
Semin Pediatr Neurol
December 2024
Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:
Chedíak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder caused by mutations in the Lysosomal Trafficking Regulator (LYST) gene, leading to defective lysosomal function in immune cells, melanocytes, and neurons. Clinically, CHS is characterized by a spectrum of symptoms, including immunodeficiency, partial oculocutaneous albinism, bleeding tendencies, neurodevelopmental deficits and progressive neurodegenerative symptoms. The severity of CHS correlates with the type of LYST mutation: the classic form, linked to nonsense or frameshift mutations, presents early in childhood with severe immune dysfunction, recurrent infections, and a high risk of hemophagocytic lymphohistiocytosis (HLH), a life-threatening hyperinflammatory state.
View Article and Find Full Text PDFGranulomatous Colitis Due to Hermansky-Pudlak Syndrome.
ACG Case Rep J
November 2024
Department of Hepato-Gastroenterology, Mohammed VI University Hospital, Oujda, Morocco.
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.
View Article and Find Full Text PDFMasks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.
Int J Mol Sci
October 2024
Research Centre for Medical Genetics, Moskvorechie Street, 1, Moscow 115522, Russia.
Article Synopsis
- Hermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder with 11 genetic subtypes linked to dysfunction in specific protein complexes, leading to symptoms like albinism, bleeding disorders, and visual impairments.
- A study examined 11 patients from eight families with albinism, discovering both novel and previously identified genetic variants related to HPS1, HPS6, and HPS9.
- To devise effective treatment and follow-up strategies, a comprehensive understanding of the disease's clinical and genetic diversity is crucial, often requiring interdisciplinary methods and advanced diagnostic techniques like RNA analysis.
Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis.
Respir Med Case Rep
September 2024
Department of Respiratory Medicine, Alfred Health, Melbourne, Australia.
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.
View Article and Find Full Text PDFAcute Angle Closure Glaucoma Attack in a Patient With Hermansky-Pudlak Syndrome: A Case Report.
Cureus
September 2024
Department of Surgery, School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI.
Article Synopsis
- Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder that causes oculocutaneous albinism, bleeding issues, and can lead to serious complications like lung fibrosis and colitis.
- A case report discusses a 63-year-old woman with HPS type 1 who experienced acute angle closure glaucoma after cataract surgery, resulting in severe pain in her right eye.
- The preoperative care included aminocaproic acid to reduce bleeding risks, and a YAG laser iridotomy was performed to lower eye pressure and stabilize her condition.
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