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This case report describes two patients with a likely new type of pachyonychia, characterized by nail thickening and severe generalized hypotrichosis, possibly linked to a mutation in a hard keratin.

In this study, researchers observed that mutant mice with a genetic hair loss condition exhibited significant differential expression of genes related to keratinization and hair follicle formation, providing insights into potential strategies for understanding and treating alopecia.

In this study, researchers observed that spontaneously mutated mice with a hair loss phenotype exhibited significant differential expression of genes related to keratinization and hair follicle formation, suggesting these mice could model human alopecia for future research and treatment development.

The researchers reported that stress-induced keratins in human skin are expressed at lower levels than those in healthy skin and are co-regulated with genes involved in differentiation, inflammation, and immunity, rather than replacing keratins of normal differentiation or indicating cell proliferation.

This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.