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This report highlights a case of adrenoleukodystrophy, a rare disease, diagnosed in a young boy with neuropsychiatric symptoms and Addison's disease, stressing the importance of early diagnosis and genetic counseling.

This study found that mesenchymal stem cell-derived exosomes reduced hearing and hair cell loss caused by neomycin in experimental models by modulating autophagy, which promoted cell survival and lowered oxidative stress and apoptosis, indicating potential for deafness treatment.

This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.

This paper reports a case of sebaceous carcinoma developing at the site of chronic candidiasis in a patient with keratitis–ichthyosis–deafness syndrome, without presenting new generalizable findings.

This report describes a case of widespread Porokeratotic eccrine and hair follicle nevus in a 15-year-old woman with keratitis-ichthyosis-deafness syndrome, involving both eccrine ostia and hair follicle infundibula.