Hermansky-Pudlak syndrome | Zendy

Kaushik Saha | Zendy; Prabodh Panchadhyayee | Zendy; Arnab Saha | Zendy; RupamKumar Ta | Zendy; Pratik Barma | Zendy

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Hermansky-Pudlak syndrome

Author(s) -

Kaushik Saha,

Prabodh Panchadhyayee,

Arnab Saha,

RupamKumar Ta,

Pratik Barma

Publication year - 2014

Publication title -

muller journal of medical sciences and research

Language(s) - English

Resource type - Journals

eISSN - 2321-3701

pISSN - 0975-9727

DOI - 10.4103/0975-9727.128956

Subject(s) - hermansky–pudlak syndrome , oculocutaneous albinism , lipofuscin , medicine , pulmonary fibrosis , albinism , pathology , melanosome , bleeding diathesis , lysosome , dermatology , fibrosis , immunology , genetics , biology , melanin , biochemistry , platelet , enzyme

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.

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