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- W2896538391 abstract "Abstract Background/Objectives Silvery hair syndrome is a rare, autosomal‐recessive entity characterized by silvery gray hair, eyebrows, and eyelashes and may be associated or not with immunologic or neurologic alterations. Two main types have been recognized: Chediak‐Higashi syndrome and Griscelli syndrome. Hair shaft examination under light microscopy has been a useful tool to differentiate Chediak‐Higashi syndrome from Griscelli syndrome, although distribution of melanin varies according to hair color related to ethnicity. The objective was to compare the pattern of melanin in the skin and with the pattern of melanin distribution in the hair shaft. Methods Sixteen patients with silvery hair syndrome were selected (Chediak‐Higashi syndrome 5, Griscelli syndrome 11). The distribution of melanin granules in skin and hair shafts was compared and correlated with clinical diagnoses. Results Chediak‐Higashi syndrome was characterized by small granules of melanin uniformly distributed throughout the thickness of the epidermis. Griscelli syndrome was characterized by an irregular pigment distribution in the epidermal basal layer with large and dense granules alternating with areas lacking melanin pigment. In two cases, study of the hair was not conclusive, but the skin showed the characteristic pattern of Griscelli syndrome. Conclusion Skin biopsy is a useful tool in differentiating Chediak‐Higashi syndrome from Griscelli syndrome and as a complementary study in cases in which hair shaft pigment distribution does not support the diagnosis, especially in patients with fair hair. The distribution of melanin granules in the skin correlates with that observed in the hair shaft, allowing Chediak‐Higashi syndrome to be differentiated from Griscelli syndrome, at any age." @default.
- W2896538391 created "2018-10-26" @default.
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- W2896538391 date "2018-10-18" @default.
- W2896538391 modified "2023-10-18" @default.
- W2896538391 title "Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome" @default.
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- W2896538391 doi "https://doi.org/10.1111/pde.13624" @default.
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