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This report describes a rare side effect of finasteride in a previously healthy 40-year-old male patient.

This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.

This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.

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 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.

This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.

This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.

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 case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.

This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.

This article offers HTML content and a downloadable PDF but does not provide an abstract or new findings for summary.

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 report presents a case of a seven-year-old girl with porokeratotic adnexal ostial nevus manifesting as hyperkeratotic verrucous papules on her left foot.

This case study describes a 7-month-old boy diagnosed with keratitis-ichthyosis-deafness syndrome due to a de novo GJB2 gene mutation, highlighting the challenges in treatment and eventual fatal outcome due to severe complications.

Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.

This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.

In this study, a transgenic mouse model was used to demonstrate that targeted cell loss in different tissues led to varying degrees of regenerative outcomes, including reversible impaired glucose tolerance, irreversible hair loss, and permanent moderate deafness.

This study evaluated the real-world safety of Tepotinib for treating NSCLC with METex14 skipping mutations, confirming known adverse events and identifying new signals like deafness and taste disorder, especially highlighting early monitoring.

In this case study, the researchers reported that surgical debridement combined with targeted dermatological and antimicrobial therapy effectively managed chronic lower-limb wounds in a patient with keratitis-ichthyosis-deafness syndrome, underscoring the importance of a multidisciplinary approach in treating this rare condition.

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 study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.

This review discusses melanocyte biology and its genetic and molecular basis, highlighting its relevance in understanding diseases like vitiligo and albinism, and reports no new findings.

This study reviewed Woodhouse-Sakati syndrome and found it consistently associated with hypogonadism, decreased IGF1, and frontotemporal alopecia, with additional symptoms like intellectual disabilities and diabetes in some patients.

This review examines the genetic factors influencing coat color in horses and donkeys, highlighting key genes like MC1R, TYR, MITF, ASIP, and KIT, and discusses implications for selective breeding and the relationship between coat color and specific equine diseases.

In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.

This study analyzed post-marketing data from the U.S. FDA Adverse Event Reporting System and identified both known and new safety concerns for Avacopan, an anti-neutrophil cytoplasmic antibodies-associated vasculitis treatment, emphasizing the need for monitoring during early treatment stages.

This study reports that hedgehog pathway inhibitors, sonidegib and vismodegib, showed distinct adverse event patterns in real-world data, suggesting the need for further research to confirm these findings.

In this case report, a 27-year-old woman experienced severe multisystem toxicity, including toxic encephalopathy, vision, and hearing loss, after ingesting selenium at occupationally high doses, suggesting such exposure can lead to previously unreported effects of vision and hearing impairment.

This case report describes a patient with a rare combination of imperfect osteogenesis and Escobar syndrome, highlighting the genetic complexity and clinical manifestations of these conditions.

This case study presents a patient with male-pattern alopecia who received PRP treatment with calcium chloride after ruling out other potential causes.