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01 October 2003

Scanning electron microscopic examination of the hair in Chédiak-Higashi syndrome

H. Hamdi Celik, Hüseyin G. Töre, Serdar Balcı, Göksen Bagcicek, Bülent Özdemir

Case Rep Clin Pract Rev 2003; 4(3):252-255 :: ID: 451376

Abstract

Background: Chédiak-Higashi syndrome (CHS) is a very rare autosomal recessive lethal disorder. It is characterized by hypomelanosis of skin and hair, immunodeficiency and hepatosplenomegaly. The color defect seen in CHS affects the skin, hair and eyes. Structural changes in the hairs of patients with CHS were not demonstrated before using scanning electron microscopy (SEM) techniques. This article presents the results of SEM examimation of hair with CHS.
Case report: The biopsy specimens were obtained from 2 girls of ages 5 and eleven months with CHS. 12 hair
specimens were taken from 2 patients. Routine SEM procedure was performed to the tissue specimen. And
then, they were examined by SEM. It was found that the keratinized structure of the hair was damaged. The
fiber groups in the follicles were scattered. Hair follicles contained degenerative areas; which were more prominent especially in some parts of the hair follicles. The cuticular pattern of the hair was destroyed. Thus, an irregular pattern was observed in these patients. several pores were observed. In addition to all these findings, there were deposits over the cuticles. These deposits were especially grouped together in some focal areas.
Conclusions: Literature survey revealed that, structural changes in the hairs of patients with CHS were not demonstrated before using SEM techniques. Thus, having detected the pathology in 12 hair specimens taken from 2 patients with CHS, a notable contribution is made to the literature by completing the gap about this syndrome.

Keywords: Chédiak-Higashi syndrome, ultrastructure, SEM

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923