Muller Journal of Medical Sciences and Research

CASE REPORT
Year
: 2014  |  Volume : 5  |  Issue : 1  |  Page : 74--76

Hermansky-Pudlak syndrome


Prabodh Panchadhyayee, Arnab Saha, Kaushik Saha, Rupam Kumar Ta, Pratik Barma 
 Department of Pulmonary Medicine, Burdwan Medical College, Burdwan, West Bengal, India

Correspondence Address:
Kaushik Saha
Rabindra Pally, 1st Lane, P.O. Nimta, Kolkata - 700 049, West Bengal
India

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis and lysosomal deposition of ceroid lipofuscin pigment. Interstitial lung disease may also accompany with the disease. Cases are mainly found among individuals with Puerto Rican ancestry. It develops due to defects in the biogenesis and/or function of lysosome-related organelles essential to membrane and protein trafficking. A 30-year-old Hindu male patient with oculocutaneous albinism, strabismus, nystagmus and severe dimness of vision presented to us for severe shortness of breath. Subsequent investigations revealed he had HPS with an advanced stage of pulmonary fibrosis.


How to cite this article:
Panchadhyayee P, Saha A, Saha K, Ta RK, Barma P. Hermansky-Pudlak syndrome.Muller J Med Sci Res 2014;5:74-76


How to cite this URL:
Panchadhyayee P, Saha A, Saha K, Ta RK, Barma P. Hermansky-Pudlak syndrome. Muller J Med Sci Res [serial online] 2014 [cited 2021 Dec 2 ];5:74-76
Available from: https://www.mjmsr.net/article.asp?issn=0975-9727;year=2014;volume=5;issue=1;spage=74;epage=76;aulast=Panchadhyayee;type=0