Diffuse pulmonary fibrosis and the Hermansky-Pudlak syndrome: clinical course and postmortem findings

Reynolds, S P; Davies, B H; Gibbs, A R
June 1994
Thorax;Jun1994, Vol. 49 Issue 6, p617
Academic Journal
journal article
No abstract available.


Related Articles

  • Hermansky-Pudlak Syndrome with Granulomatous Colitis. Schinella, Roger A.; Greco, M. Alba; Cobert, Barton L.; Denmark, Larry W.; Cox, Rody P. // Annals of Internal Medicine;Jan80, Vol. 92 Issue 1, p20 

    Discusses the possible links between the Hermansky-Pudlak syndrome and granulomatous colitis. Pathologic findings in several cases of colitis with Hermansky-Pudlak syndrome; Results of the fluorescent and electron microscopies; Details on the genetics of the Hermansky-Pudlak syndrome.

  • The Gene for Lysosomal Protein CD63 Is Normal in Patients with hermansky-Pudlak Syndrome. Armstrong, L. W.; Rom, W. N.; Martiniuk, F. T. // Lung;1998, Vol. 176 Issue 4, p249 

    Characterizes the gene coding for CD63 protein in Hermansky-Pudlak syndrome cell lines using polymerase chain reaction. Genetic disorders associated with severe pulmonary fibrosis; Complications of the disease; Cause of ceroid deposition; Accumulation of ceroid-like materials in the central...

  • Hermansky-Pudlak syndrome complicated by pulmonary fibrosis. Carter, Brett W. // Baylor University Medical Center Proceedings;Jan2012, Vol. 25 Issue 1, p76 

    The article presents a case study of a 45 year old woman with Hermansky-Pudlak syndrome and pulmonary fibrosis who presented to a hospital emergency department with worsening dyspnea that had lasted for several days. A discussion of diagnostic testing and medical care which was provided to the...

  • Perirectal Abscess in the Hermansky-Pudlak Syndrome. Sherman, Alex; Genuth, Lewis; Hazzi, Charles G.; Balthazar, Emil J.; Schinella, Roger A. // American Journal of Gastroenterology;May1989, Vol. 84 Issue 5, p552 

    The Hermansky-Pudlak syndrome (HPS) is a triad of tyrosine-positive albinism, platelet dysfunction, and the deposition of an abnormal ceroid-like pigment in the tissues. Complications of the syndrome, such as pulmonary fibrosis, renal failure, and cardiomyopathy, have been described....

  • Characterization of Melanosomes in Murine Hermansky–Pudlak Syndrome: Mechanisms of Hypopigmentation. Nguyen, Thuyen; Wei, Maria L. // Journal of Investigative Dermatology;Feb2004, Vol. 122 Issue 2, p452 

    The Hermansky–Pudlak syndrome is a genetically heterogeneous autosomal recessive disorder affecting mice and humans, which causes oculocutaneous albinism, prolonged bleeding, and in some cases, pulmonary fibrosis or granulomatous colitis. We previously demonstrated that the gene defects...

  • Hermansky–Pudlak syndrome in pregnancy: A case report. Yusuf, Lydia; Dukka, Srivasavi; Ciantar, Etienne // Obstetric Medicine (1753-495X);Dec2016, Vol. 9 Issue 4, p171 

    Hermansky–Pudlak syndrome is a rare autosomal recessive disorder estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Clinically, it presents as oculocutaneous albinism combined with bleeding diathesis. This is due to the absence of dense bodies in platelets causing a...

  • Hermansky-Pudlak Syndrome: A Case Report. Berber, Ilhami; Erkurt, Mehmet Ali; Kuku, Irfan; Kaya, Emin; Koroglu, Mustafa; Nizam, Ilknur; Gul, Mehmet; Bentli, Recep // Case Reports in Hematology;2014, p1 

    Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be...

  • A rare cause of thrombocyte dysfunction: Hermansky-Pudlak syndrome. Özdemir, Nihal; Çelik, Emre; Başlar, Zafer; Celkan, Tiraje // Turkish Pediatrics Archive / Turk Pediatri Arsivi;6/1/2014, Vol. 49 Issue 2, p163 

    Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disease characterized with oculocutaneous albinism and platelet aggregation disorder. The clinical picture is highly variable and patients may present with different complaints., Ecchymoses usually develop in childhood; epistaxis,...

  • Hermansky-Pudlak Sendromlu Bir Olguya ait Klinik Özellikler. Türk, Adem; Fidan, Sami; Uzun, Yusuf; Ersöz, şafak // Gulhane Medical Journal;Jun2013, Vol. 55 Issue 2, p146 

    Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder consisting of oculocutaneous albinism, bleeding diathesis, and systemic complications associated with the deposition of an abnormal ceroid-like lipofuscin pigment in the tissues. In this study, we report a 19 year old female...

  • Clinical and cellular characterisation of Hermansky—Pudlak syndrome type 6.  // Journal of Medical Genetics;Dec2009, Vol. 46 Issue 12, p2 

    Background: In the last decade, Hermansky—Pudlak syndrome (HPS) has arisen as an instructive disorder for cell biologists to study the biogenesis of lysosome related organelles (LROs). Of the eight human HPS subtypes, only subtypes 1 through 5 are well described. Aim: To characterise...


Read the Article


Sign out of this library

Other Topics