Hermansky-Pudlak syndrome
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 Puer...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2014-01-01
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| Series: | Muller Journal of Medical Sciences and Research |
| Subjects: | |
| Online Access: | http://www.mjmsr.net/article.asp?issn=0975-9727;year=2014;volume=5;issue=1;spage=74;epage=76;aulast=Panchadhyayee |
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| author | Prabodh Panchadhyayee Arnab Saha Kaushik Saha Rupam Kumar Ta Pratik Barma |
| author_facet | Prabodh Panchadhyayee Arnab Saha Kaushik Saha Rupam Kumar Ta Pratik Barma |
| author_sort | Prabodh Panchadhyayee |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-11T23:56:55Z |
| format | Article |
| id | doaj.art-7a0a7a4929c84fa78e63fa2083325090 |
| institution | Directory Open Access Journal |
| issn | 0975-9727 |
| language | English |
| last_indexed | 2024-12-11T23:56:55Z |
| publishDate | 2014-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Muller Journal of Medical Sciences and Research |
| spelling | doaj.art-7a0a7a4929c84fa78e63fa20833250902022-12-22T00:45:20ZengWolters Kluwer Medknow PublicationsMuller Journal of Medical Sciences and Research0975-97272014-01-0151747610.4103/0975-9727.128956Hermansky-Pudlak syndromePrabodh PanchadhyayeeArnab SahaKaushik SahaRupam Kumar TaPratik BarmaHermansky-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.http://www.mjmsr.net/article.asp?issn=0975-9727;year=2014;volume=5;issue=1;spage=74;epage=76;aulast=PanchadhyayeeAlbinismHermansky-Pudlak syndromeinterstitial lung disease |
| spellingShingle | Prabodh Panchadhyayee Arnab Saha Kaushik Saha Rupam Kumar Ta Pratik Barma Hermansky-Pudlak syndrome Muller Journal of Medical Sciences and Research Albinism Hermansky-Pudlak syndrome interstitial lung disease |
| title | Hermansky-Pudlak syndrome |
| title_full | Hermansky-Pudlak syndrome |
| title_fullStr | Hermansky-Pudlak syndrome |
| title_full_unstemmed | Hermansky-Pudlak syndrome |
| title_short | Hermansky-Pudlak syndrome |
| title_sort | hermansky pudlak syndrome |
| topic | Albinism Hermansky-Pudlak syndrome interstitial lung disease |
| url | http://www.mjmsr.net/article.asp?issn=0975-9727;year=2014;volume=5;issue=1;spage=74;epage=76;aulast=Panchadhyayee |
| work_keys_str_mv | AT prabodhpanchadhyayee hermanskypudlaksyndrome AT arnabsaha hermanskypudlaksyndrome AT kaushiksaha hermanskypudlaksyndrome AT rupamkumarta hermanskypudlaksyndrome AT pratikbarma hermanskypudlaksyndrome |