Open AccessAn Interesting Case of Hermansky Pudlak Syndrome- A Rare Case Report
Author(s) -
K. Ezhilvendhan,
Harshitha S,
Kamalabala Krishnan,
Aprajita Gautam
Publication year - 2021
Publication title -
scholars journal of medical case reports
Language(s) - English
Resource type - Journals
eISSN - 2347-9507
pISSN - 2347-6559
DOI - 10.36347/sjmcr.2021.v09i11.017
Subject(s) - oculocutaneous albinism , hermansky–pudlak syndrome , albinism , strabismus , dermatology , medicine , nystagmus , hypopigmentation , pathology , ophthalmology , genetics , biology , audiology , pulmonary fibrosis , fibrosis
Oculo cutaneous albinism [OCA] is a autosomal recessive disorder associated with reduction in the pigment of skin, hair and eyes with strabismus and nystagmus leading to misrouting of optic nerve fibers from eye to brain during development. Reduction in skin pigmentation leads to the increased risk of skin cancer due to photosensitivity. They can occur in isolated forms or associated with syndromes. Syndromic OCA includes oculocutaneous albinism with hermansky pudlak syndrome. Seven types of OCA [1-6] with mutation in different genes have been identified.