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This study found that treating reconstructed human epidermis with beta-lipohydroxy salicylic acid increased tight junction remnants in the stratum corneum, potentially affecting skin cohesion and desquamation.

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.

Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.

This case report describes a rare instance of Olmsted syndrome with hypotrichosis in a 5-year-old boy, noting mild improvement in symptoms following treatment with oral acitretin and other interventions.