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Case Reports
. 2017 Jan-Mar;9(1):38-41.
doi: 10.4103/ijt.ijt_21_16.

Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes

P L Chandravathi  1 , Hetal Deepak Karani  1 , Sirisha Rani Siddaiahgari  2 , Lokesh Lingappa  3
Affiliations
Case Reports

Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes

P L Chandravathi et al. Int J Trichology. 2017 Jan-Mar.

Abstract

Gray hair syndromes are rare syndromes which have an autosomal recessive inheritance and are characterized by pigmentary dilution of skin and hair, defects in immunological function, and nervous system defects. They comprise three disorders namely Chediak-Higashi syndrome (CHS), Griscelli syndrome (GPS), and Elejalde syndrome. Clinically, it is difficult to distinguish these disorders as their clinical features may overlap. Hence, to make a correct diagnosis and differentiate between CHS and GPS light microscopic examination of skin and hair shafts as well as peripheral blood smear evaluations should be done. In cases where the diagnosis is not possible chromosomal analysis for specific mutations can be done. In resource-poor settings where chromosomal analysis is not possible, and light microscopy findings are inconclusive, polarized microscopy can serve as a useful tool to distinguish between CHS and GPS. We report three cases with gray hair syndromes where the diagnosis on light microscopy and polarized microscopy of hair shaft correlated with the bone marrow examination findings and chromosomal analysis, thus emphasizing the importance of a noninvasive, cost-effective, and time-saving alternative in the diagnosis of these syndromes.

Keywords: Chediak–Higashi syndrome; Griscelli syndrome; gray hair syndromes; polarized microscopy.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
(a) Silvery gray hair on the scalp and mottled pigmentation present over the face. (b) Silvery gray hair on the scalp. (c) Mottled pigmentation present over both upper and lower limbs. (d) Mottled pigmentation closer view
Figure 2
Figure 2
Light microscopy at ×40 magnification showing large regular clumps of melanin in the hair shaft
Figure 3
Figure 3
Polarized microscopy showing bright shaft with different individual colors
Figure 4
Figure 4
Gray hair present on scalp
Figure 5
Figure 5
Light microscopy at ×40 magnification showing large irregular melanin granules
Figure 6
Figure 6
Grayish discoloration of scalp and eyebrow hair
Figure 7
Figure 7
(a) Light microscopy of the hair shaft showing inconclusive results. (b) Light microscopy of the hair shaft showing inconclusive results
Figure 8
Figure 8
Polarized microscopy showing bright hair shaft with monotonous white appearance
See this image and copyright information in PMC

References

    1. Mancini AJ, Chan LS, Paller AS. Partial albinism with immunodeficiency: Griscelli syndrome: Report of a case and review of the literature. J Am Acad Dermatol. 1998;38(2 Pt 2):295–300. - PubMed
    1. Valente NY, Machado MC, Boggio P, Alves AC, Bergonse FN, Casella E, et al. Polarized light microscopy of hair shafts aids in the differential diagnosis of Chédiak-Higashi and Griscelli-Prunieras syndromes. Clinics (Sao Paulo) 2006;61:327–32. - PubMed
    1. Al-Khenaizan S. Hyperpigmentation in Chediak-Higashi syndrome. J Am Acad Dermatol. 2003;49(5 Suppl):S244–6. - PubMed

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