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Chédiak-Higashi syndrome (CHS) is an autosomal recessive disorder among the spectrum of partial oculocutaneous albinism, in which hypopigmentation of the skin and eyes is associated with immunodeficiency. Clinical findings include increased susceptibility to infection, especially bacterial, coagulation defects, and progressive peripheral neuropathy. Ultimately, a severe disease stage occurs in which massive lymphohistiocytic infiltration of organs termed “accelerated phase” results in death in the first decade of life. CHS is a rare disorder, with less than 500 reported cases in the past two decades, caused by a fundamental defect in granule genesis, leading to abnormally large granules in multiple tissues. Mutations in the CHS1/LYST gene, encoding a family of proteins thought to regulate lysosomal trafficking and degranulation, have been identified in CHS patients.
The pigmentary dilution involving the hair, skin, iris, and ocular...
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© 2014 Springer-Verlag Berlin Heidelberg
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Zayit-Soudry, S., Mimouni, M. (2014). Chédiak-Higashi Syndrome. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35951-4_1012-1
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DOI: https://doi.org/10.1007/978-3-642-35951-4_1012-1
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Publisher Name: Springer, Berlin, Heidelberg
Online ISBN: 978-3-642-35951-4
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