CHÉDIAK–HIGASHI SYNDROME

By Gary M. White, MD


Chédiak–Higashi syndrome (CHS) is a genetic disorder that results in gray or silvery hair, hypopigmented eyes and skin, and systemic abnormalities. It is in the differential of pediatric “silvery hair syndromes” consisting of Chediak-Higashi syndrome, Griscelli syndrome, and Elejalde disease.

Clinical

The child is born with skin and eyes that are lighter than siblings and/or their race. Later in childhood with sun exposure, the skin of the face and arms (and legs) may become significantly darker but it often has a speckled look with both hypo- and hyper-pigmented areas. The hair is metallic gray or silvery. Skin infections are not uncommon.

Treatment

Aggressive treatment of any infection is important. Long-term antibiotic therapy and ascorbic acid are often given. The only definitive treatment is bone marrow transplant from a human leukocyte antigen-matched donor and prognosis is good if done before the accelerated phase.

References

A 6-year-old girl with asymptomatic pigmentary lesions over face and upper extremities for 4 years. She had recurrent respiratory infections and variable hair color since early childhood. Her younger sisters aged 4 and 2 years had almost similar features. Both her parents were unaffected. Silvery hair with speckled dyspigmentation: Chediak-Higashi syndrome in three indian siblings. Int J Trichol 2015;7:133-5

A 13-year-old boy born to consanguineously married (first-degree relative) parents seen for a rash was noted to have strikingly silver hair over the entire body and scalp including eyelashes and eyebrows. A Silvery Hair Syndrome in Two Cousins: Chediak-Higashi Syndrome vs Griscelli Syndrome, with Rare Associations. Int J Trichology 2011 Jul-Dec; 3(2): 107–111

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