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This review discusses the unique characteristics and possible pathophysiology of spiny keratoderma, reporting no new clinical results, but suggests that some therapies might alleviate symptoms.

This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.

This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.

This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

This case report discusses a 15-year-old boy with pachyonychia congenita, identifying a keratin 17 gene mutation, and highlights the need for a national registry and more accessible genetic testing in India.