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Griscelli syndrome
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Griscelli syndrome

Contributors: Benjamin L. Mazer MD, MBA
Other Resources UpToDate PubMed

Synopsis

Griscelli syndrome is a rare, autosomal recessive syndrome that presents with varying degrees of albinism, immune deficiency, and neurologic abnormalities. Silver-gray hair is the most distinctive physical feature. Severe infections, hemophagocytic syndrome, and developmental delay begin to develop in infancy. It is most common in people of Middle Eastern and Mediterranean descent. There are 3 subtypes of Griscelli syndrome that differ in the underlying genetic mutation and extent of neurologic and immune dysfunction. The immunodeficiency associated with Griscelli syndrome can be treated with bone marrow transplantation. Without transplantation, Griscelli syndrome is predominantly fatal.

Codes

ICD10CM:
E70.39 – Other specified albinism

SNOMEDCT:
37548006 – Hypopigmentation-immunodeficiency disease

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Last Updated:01/16/2022
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Griscelli syndrome
A medical illustration showing key findings of Griscelli syndrome (Type 2) : Hepatomegaly, Hypotonia, Silver hair, Splenomegaly, WBC decreased
Copyright © 2022 VisualDx®. All rights reserved.