Chediak-Higashi syndrome

(redirected from Silvery hair syndrome)

Chédiak-Higashi syndrome

 
a lethal, progressive, autosomal recessive, systemic disorder associated with oculocutaneous albinism, massive leukocyte inclusions (giant lysosomes), histiocytic infiltration of multiple body organs, development of pancytopenia, hepatosplenomegaly, recurrent or persistent bacterial infections, and a possible predisposition to development of malignant lymphoma.

Ché·di·ak-Hi·ga·shi syndrome

(chē'dē-ak hē-gah'shē), [MIM*214500 and MIM*214450]
a genetic disorder associated with abnormalities of granulation and nuclear structure of all types of leukocytes and with the presence of peroxidase-positive granules, cytoplasmic inclusions, and Dohle bodies; characterized by hepatosplenomegaly, lymphadenopathy, anemia, neutropenia, partial albinism, nystagmus, photophobia, and susceptibilities to infection and lymphoma; death usually occurs in young animals or during childhood; occurs in mink, cattle, mice, killer whales, and humans; autosomal recessive inheritance, caused by mutation in the Chediak-Higashi gene (CHS) on chromosome 1q.

Chédiak-Higashi syndrome

(shād′yäk-hĭ-gä′shē)
n.
A rare autosomal recessive condition caused by dysfunction of cellular lysosomes and characterized by susceptibility to infection, partial albinism, hepatosplenomegaly, pancytopenia, and often lymphoma.

Chediak-Higashi syndrome

Chediak-Higashi-Steinbrink syndrome, hereditary leukomelanopathy Molecular medicine A rare AR condition characterized by giant lysosomes and ↑ susceptibility to infections Clinical Partial albinism, lymphadenopathy, hepatosplenomegaly, debilitating neuropathy, photophobia, purulent infections; without BMT most Pts die by age 3 Lab Giant granules in WBCs and platelets, ↓ chemotaxis, bactericidal activity Management BMT, steroids Prognosis Death by age 10

Ché·d·i·ak-Hi·ga·shi syn·drome

(chā'dē-ahk-hē-gah'shē sin'drōm)
A genetic disorder associated with abnormalities of granulation and nuclear structure of all types of leukocytes and with the presence of peroxidase-positive granules, cytoplasmic inclusions, and Dohle bodies; characterized by hepatosplenomegaly, lymphadenopathy, anemia, neutropenia, partial albinism, nystagmus, photophobia, and susceptibilities to infection and lymphoma; death usually occurs in childhood; occurs in mink, cattle, mice, killer whales, and humans; autosomal recessive inheritance, caused by mutation in the Chediak-Higashi gene (CHS) on chromosome 1q.
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References in periodicals archive ?
Impaired melanosome transport giving rise to failure of transfer of melanin to keratinocytes results in the pigmentary abnormalities in patients with silvery hair syndrome and the affected genes are believed to be involved in lysosomal transport of melanosomes.5
Children with silvery hair syndromes have skin that is so hypopigmented at birth they may resemble children with albinism, though after exposure to sunlight, their skin becomes deeply, bronzed, said Dr.
Gene mutations that express two critical proteins involved in this process, myosin 5A and Rab27, are key to abnormalities in two silvery hair syndromes, Elejalde and Griscelli, respectively.