Description of clinical aspects and microscopy of the hair shaft of a carrier of
            familial monilethrix

Ferreira, Maria Angélica Tosi; Gonzales, João Francisco O.; Diniz, Bruna Lixinski; Floriani, Maiara Anschau; Bau, Ana Elisa K.; Rosa, Rosana C. M.; Rosa, Rafael Fabiano Machado; Zen, Paulo Ricardo Gazzola

doi:10.5935/1676-2444.20180055

Cited by 1 publication

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“…Monilethrix is a pervasive innate disorder. It occurs due to mutation in the human keratin gene KRT86 and KRT81 [99][100]. Clinically, Monilethrix is distinguished by dystrophic hair reduced region or with complete alopecia.…”

Section: Introductionmentioning

confidence: 99%

Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins

Sharma¹,

Kumawat²,

Sharma³

et al. 2021

Cytogenetics - Classical and Molecular Strategies for Analysing Heredity Material

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Cytokeratins are keratinous protein and assist cells to reduce mechanical stress on the intracytoplasmic layer of epithelial tissue. There are several unspecified mutations in the epithelial layer that may induces by environmental mutagens and pathogens. The unspecified mutations in the epithelium surface also disrupt biology of skin at multiple different levels and cause innate keratinizing disorders. These serve as a root generator of neurohormones and neuropeptides which mainly partake in the disruption. Generally, all 54 unique genes of human keratin partake in mutations and cause cutaneous tissue fragility, skin hypertrophic, and malignant transformation. In this chapter, unspecific factors that involved in the pathogenesis of skin diseases and the ways by which such keratin changes might harness to alleviate different skin conditions are also included. Consequently, the contribution of environmental changes in the frontier of mutations or misregulations of the cytokeratin genes, is also cited here.

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Section: Introductionmentioning

confidence: 99%