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Chediak‐Higashi Syndrome in a Black Child
Author(s) -
Anderson Lawrence L.,
Paller Amy S.,
Malpass David,
Schmidt Mary Lou,
Berger Timothy G.
Publication year - 1992
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1992.tb00322.x
Subject(s) - pathognomonic , chédiak–higashi syndrome , melanosome , medicine , albinism , pathology , genetic disorder , intracellular , dermatology , melanin , disease , genetics , biology
Chediak‐Higashi syndrome (CHS) is an uncommon genetic disorder with a constellation of clinical, pathologic, and immunologic manifestations. It is rarely reported in blacks. Pathognomonic intracellular inclusions in white blood cells are well recognized; however, characteristic abnormal melanin aggregation into giant melanosomes also occurs, as can be readily seen by histologic evaluation of hair. We present a case of CHS in a black child.