Light microscopy and polarized microscopy: A dermatological tool to diagnose gray hair syndromes

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.

Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome

“…Nevertheless, the clinical history, physical examination, and hair shaft examination could provide a rapid clinical suspicion of this severe disease. Moreover, GS and CHS can be differentiated by hair microscopy [ 10 ]. Large irregular melanin granules are observed in all types of GS, while small melanin granules homogeneously distributed are shown in CHS [ 11 ].…”

Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach

“…This method can distinguish between CHS and other hypopigmentation or silvery hair syndromes such as GS2. 47,48 The same distribution of melanin granules in skin biopsy can also lead to the diagnosis of CHS. 49 Genetic analysis of the LYST gene further confirms the diagnosis; next-generation sequencing is the most result in mild late-onset atypical CHS without hemophagocytic lymphohistiocytosis (HLH) manifestations.…”

Hair Shaft Examination in a Child With Global Developmental Delay

“…RAB27A encodes for protein for the anchorage of melanosomes in melanocytes and exocytosis of cytotoxic granules in natural killer cells and T lymphocytes, leading to hypopigmentation and immunodeficiency. 1 Hair shaft examination is a cost-effective and noninvasive tool to diagnosis where genetic testing is not quickly available.…”