SavedAdd your journal

Journals / Gülhane Tıp Dergisi / 2013 / Cilt: 55 - Sayı: 2

Clinical Features of a Case with Hermansky-Pudlak Syndrome

Hermansky-pudlak sendromlu bir olguya ait klinik özellikler

Adem TÜRK
SAMİ FİDAN
Yusuf UZUN
Şafak ERSÖZ
Pages
146–149
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this study, we presented the case and discussed the diagnosis and treatment of HPS with reference to previous studies.

📌 3 Key Takeaways

🎯
Objective & Hypothesis: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.
📊
Key Findings & Data:In this study, we report a 19 year old female HPS case who was admitted to our clinic due to her gastroenterological problems.
💡
Conclusion & Impact:In this study, we presented the case and discussed the diagnosis and treatment of HPS with reference to previous studies.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

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 HPS case who was admitted to our clinic due to her gastroenterological problems. Her colonoscopic and pathological investigations were consistent with granulomatous colitis. She had also clinical findings of oculocutaneous albinism and platelet dysfunction. Furthermore, optical coherence tomography investigation yielded bilateral foveal hypoplasia. In this study, we presented the case and discussed the diagnosis and treatment of HPS with reference to previous studies.

Özet

Hermansky-Pudlak sendromu (HPS) okülokutanöz albinizm, kanama diatezi, seroide benzer anormal lipofuskin pigmentinin dokularda birikimiyle ortaya çıkan sistemik komplikasyonları içine alan nadir görülen bir otozomal resesif hastalıktır. Bu çalışmada gastroenterolojik problemleri nedeniyle kliniğimize kabul edilen 19 yaşındaki HPS’li bir kadın olguyu sunmaktayız. Olgunun kolonoskopik ve patolojik incelemeleri granülomatöz kolit ile uyumluydu. Aynı zamanda olgunun okülokutanöz albinizm ve trombosit fonksiyon bozukluğuna ait klinik bulguları mevcuttu. Ayrıca optik koherens tomografi incelemesinde bilateral foveal hipoplazi saptandı. Biz bu çalışmada bahsedilen olguyu sunduk ve yapılan önceki çalışmalar ışığında HPS’nin teşhis ve tedavisini tartıştık.

🔖

Cite This Article

TÜRK, A., FİDAN, S., UZUN, Y., ERSÖZ, Ş. (2013). Clinical Features of a Case with Hermansky-Pudlak Syndrome. Gülhane Tıp Dergisi, Cilt: 55 - Sayı: 2, 146–149. https://ajindex.com/articles/225331

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (16)

  1. Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies. Blood 1959; 14: 162-169
  2. Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and related disorders of organelle formation. Traffic 2000; 1: 823-835
  3. Wei ML. Hermansky-Pudlak syndrome: A disease of protein trafficking and organelle function. Pigment Cell Res 2006; 19: 19-42
  4. Korswagen LA, Huizing M, Simsek S, Janssen JJ, Zweegman S. A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5. Eur J Haematol 2008; 80: 356-360
  5. Küçük N, Suher M, Koç E, Gülsoy R. Hermansky-Pudlak sendromlu bir olgu. Turkish Medical Journal 2007; 1: 168-170
  6. Tang J, Tsilou E, Caruso RC, Rubin B, Gahl WA. Bilateral staphylomas in a patient with Hermansky-Pudlak syndrome. Retina 2005; 25: 99-100
  7. Schinella RA, Greco MA, Cobert BL, Denmark LW, Cox RP. Hermansky–Pudlak syndrome with granulomatous colitis. Ann Intern Med 1980; 92: 20-23
  8. Shanahan F, Randolph L, King R, et al. Hermansky– Pudlak syndrome: an immunologic assessment of 15 cases. Am J Med 1988; 85: 823-828
  9. Gradstein L, FitzGibbon EJ, Tsilou ET, Rubin BI, Huizing M, Gahl WA. Eye movement abnormalities in hermansky-pudlak syndrome. J AAPOS 2005; 9: 369- 378
  10. Feng L, Novak EK, Hartnell LM, Bonifacino JS, Collinson LM, Swank RT. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. Blood 2002; 99: 1651- 1658
  11. Toro J, Turner M, Gahl WA. Dermatologic manifestations of Hermansky–Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. Arch Dermatol 1999; 135: 774-780
  12. Witkop CJ, Krumwiede M, Sedano H, White JG. Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky–Pudlak syndrome. Am J Hematol 1987; 26: 305-311
  13. Çelebi H, Çelebi S, Elkıran T, Kükner AŞ, Köhle Ü. Oküler albinizmi ve kanama diyatezi olan Hermansky- Pudlak sendromlu bir olgu. Ret-Vit 2006; 14: 63-66
  14. Simon JW, Adams RJ, Calhoun JH, Shapiro SS, Ingerman CM. Ophthalmic manifestations of the Hermansky– Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). Am J Ophthalmol 1982; 93: 71-77
  15. Summers CG, Knobloch WH, Witkop CJ Jr, King RA. Hermansky-Pudlak syndrome. Ophthalmic findings. Ophthalmology 1988; 95: 545-554
  16. Izquierdo NJ, Tow