1 citations
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July 2025 in “Dermatology Reports” This case report highlights a rare instance of syphilitic alopecia and ocular syphilis in an immunocompetent, HIV-negative woman, showing that syphilis-directed treatment led to symptom reversal, emphasizing the need to consider syphilis in the differential diagnosis for atypical alopecia.
September 2021 in “Pediatrics in review” 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.
17 citations
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September 2010 in “Pediatric dermatology” 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.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” 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.
December 2025 in “Journal of Clinical Medicine” 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.