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Chediak-Higashi syndrome - Skin
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Chediak-Higashi syndrome - Skin

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Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH, Nancy Esterly MD
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Synopsis

Chediak-Higashi syndrome is a multisystem immunodeficiency disorder characterized by recurrent infections, oculocutaneous albinism, and many neurologic problems (nystagmus, photophobia, peripheral neuropathy, seizures, problems in the spine and cerebellum). The defective gene, LYST, has been identified and is inherited in an autosomal recessive fashion. Chediak-Higashi presents in early childhood. Neutrophils have impaired chemotaxis, intracellular killing, and natural killer cell function. Death in childhood may occur due to infections or an accelerated lymphoma-like phase that occurs in 80% of patients.

For more information, see OMIM.

Codes

ICD10CM:
E70.330 – Chediak-Higashi syndrome

SNOMEDCT:
111396008 – Chediak-Higashi syndrome

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Last Updated: 03/29/2017
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Chediak-Higashi syndrome - Skin
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Chediak-Higashi syndrome : Seizures, Photophobia, Neuropathy peripheral, Nystagmus, Pancytopenia, Silver hair, PLT decreased
Clinical image of Chediak-Higashi syndrome
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