Hermansky-Pudlak Syndrome.

@article{ElChemaly2016HermanskyPudlakS,
  title={Hermansky-Pudlak Syndrome.},
  author={Souheil El-Chemaly and Lisa R. Young},
  journal={Clinics in chest medicine},
  year={2016},
  volume={37 3},
  pages={
          505-11
        }
}
Hermansky-Pudlak Syndrome.
TLDR
The epidemiology, genetics, clinical manifestations, and management of HPS are described, and treatment options for individuals with HPS-PF include pirfenidone and lung transplantation.
Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics
TLDR
This review aims to summarize current research on HPS along with its associated pulmonary fibrosis and its implications for the development of novel treatments, and discusses emerging new cellular and molecular approaches for studying HPS.
Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents—A case study
TLDR
This case study indicates the importance of periodontitis as a possible indicator of underlying systemic disease and expands the spectrum of AP3B1 mutations and further provides additional genetic testing information for other HPS-2 patients.
Hermansky-Pudlak syndrome-associated pneumothorax with rapid progression of respiratory failure: a case report
TLDR
A rare HPS patient who developed pneumothorax with progressive PF is reported, which may cause rapid progressive respiratory failure and may be associated with PF progression in HPS-PF.
Treatment of Hermansky-Pudlak syndrome Associated granulomatous colitis with anti-TNF agents: case series and review of literature.
TLDR
Four cases with Hermansky-Pudlak syndrome associated colitis with the longest follow-up period having various responses to different anti-TNF agents are presented.
Living donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome
TLDR
The case of a 55-year-old male patient with HPS that successfully underwent a living donor kidney transplant is described, emphasising the importance of multidisciplinary input during the preoperative, perioperative and postoperative phases in this high-risk clinical scenario.
Hermansky-Pudlak Syndrome: A Rare Cause of Post-polypectomy Bleeding
TLDR
The case of a 68-year-old man known to have Hermansky-Pudlak syndrome who presented with two days history of rectal bleeding one day after he had a screening colonoscopy with polypectomy illustrates the importance of considering platelet transfusion and/or administration during minor surgical procedures for patients with bleeding diathesis.
Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome
TLDR
Findings indicate that MMP activity is dysregulated in the HPS lung, suggesting a role for these proteases as biological markers or pathogenic players in H PS lung disease.
CB1R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky–Pudlak syndrome
TLDR
Simultaneous targeting of CB1R and iNOS by MRI‐1867 yielded greater antifibrotic efficacy than inhibiting either target alone by attenuating critical pathologic pathways.
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References

SHOWING 1-10 OF 136 REFERENCES
The Hermansky-Pudlak syndrome.
Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis.
TLDR
The patient was a mentally retarded albino with mild bleeding diathesis, and her course was complicated by granulomatous colitis refractory to medical treatment and progressive, fatal pulmonary fibrosis.
Hermansky-Pudlak Syndrome: Health Care Throughout Life
TLDR
Optimal health care requires a thorough knowledge of the unique health risks and functional limitations associated with this syndrome, and patients with HPS, specifically those with the genotypes HPS-1, H PS-2, or HPS4, are predisposed to interstitial lung disease.
Hermansky-Pudlak Syndrome Complicated by Pulmonary Fibrosis: Radiologic-Pathologic Correlation and Review of Pulmonary Complications
TLDR
The clinical course, imaging, and postmortem findings of a 38-year-old female with HPS-related progressive pulmonary fibrosis are reported, highlighting the role of imaging in assessment of disease severity and prognosis.
Hermansky-Pudlak syndrome with granulomatous colitis.
TLDR
Two families with documented Hermansky-Pudlak syndrome in which four members, two from each family, developed granulomatous colitis are described, adding another disease entity to those associated with this syndrome.
Complicated granulomatous colitis in a patient with Hermansky-Pudlak syndrome, successfully treated with infliximab.
TLDR
A patient with HPS which was complicated by granulomatous colitis with perineal and rectovaginal fistulas refractory to antibiotics and azathioprine but dramatically responded to repeated infusions of infliximab is reported.
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome
TLDR
Pfenidone, a novel compound with documented anti-inflammatory, antioxidant and antifibrotic effects, appears to hold promise in delaying or preventing fibrosis in HPS.
Hypopigmentation in Hermansky–Pudlak syndrome
  • A. WeiXin HeWei Li
  • Medicine, Biology
    The Journal of dermatology
  • 2013
TLDR
Current understanding of the cargo transporting mechanisms into the melanosomes expands the knowledge of the pathogenesis of hypopigmentation in HPS patients.
Crohn's‐like colitis, enterocolitis and perianal disease in Hermansky–Pudlak syndrome
  • D. HazzanS. Seward J. Bauer
  • Medicine
    Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland
  • 2006
TLDR
Observations suggest that the GI complications of HPS are due to the development of classical Crohn's disease, and the implications for disease pathogenesis and surgical management are discussed.
Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype.
  • N. HussainM. Quezado P. Mannon
  • Medicine
    Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
  • 2006
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