Treatment of Epidermal Pathology in a Pediatric Patient With Keratitis–Ichthyosis–Deafness ( <scp>KID</scp> ) Syndrome With Topical Mefenamic Acid

Keratitis-ichthyosis-deafness (KID) syndrome is a rare genetic condition typically presenting at birth with ichthyosiform erythroderma and bilateral hearing loss and later progressing to diffuse keratodermatous plaques with scaling. The condition is associated with mutations in the GJB2 gene, which lead to aberrant activation of connexin hemichannels in keratinocytes. While no targeted treatment currently exists, a previously published in vivo study demonstrated that flufenamic acid (FFA), a nonspecific connexin inhibitor, reduces epidermal pathology in transgenic mouse models expressing the lethal GJB2 mutation. Herein, we report the case of a 5-year-old boy with KID syndrome presenting with painful, persistent scalp lesions, which responded remarkably well to topical mefenamic acid, offering a potential novel therapy for managing this challenging condition.

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Publication Details

Journal
Pediatric Dermatology
Published
2025-08-15
DOI
https://doi.org/10.1111/pde.70000
Primary Topic
Connexins and lens biology
Type
article
Field-Weighted Citation Impact
0.00
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article

Treatment of Epidermal Pathology in a Pediatric Patient With Keratitis–Ichthyosis–Deafness ( KID ) Syndrome With Topical Mefenamic Acid

Lars Brichta, Andrew Fu Wah Ho, Albert C. Yan, Radhika Gupta
Pediatric Dermatology
Connexins and lens biology
article

Treatment of Epidermal Pathology in a Pediatric Patient With Keratitis–Ichthyosis–Deafness ( KID ) Syndrome With Topical Mefenamic Acid

Lars Brichta, Andrew Fu Wah Ho, Albert C. Yan, Radhika Gupta
article en

Abstract

Keratitis-ichthyosis-deafness (KID) syndrome is a rare genetic condition typically presenting at birth with ichthyosiform erythroderma and bilateral hearing loss and later progressing to diffuse keratodermatous plaques with scaling. The condition is associated with mutations in the GJB2 gene, which lead to aberrant activation of connexin hemichannels in keratinocytes. While no targeted treatment currently exists, a previously published in vivo study demonstrated that flufenamic acid (FFA), a nonspecific connexin inhibitor, reduces epidermal pathology in transgenic mouse models expressing the lethal GJB2 mutation. Herein, we report the case of a 5-year-old boy with KID syndrome presenting with painful, persistent scalp lesions, which responded remarkably well to topical mefenamic acid, offering a potential novel therapy for managing this challenging condition.

Pediatric DermatologyVol. 43(1)
Children's Hospital of Philadelphia (US), Changi General Hospital (SG), University of Pennsylvania (US)
Good health and well-being
Openalex Percentile: Top 82%
Connexins and lens biology
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Treatment of Epidermal Pathology in a Pediatric Patient With Keratitis–Ichthyosis–Deafness ( <scp>KID</scp> ) Syndrome With Topical Mefenamic Acid — Lars Brichta, Andrew Fu Wah Ho, et al. · Pediatric Dermatology (2025) | TGRS Research Map | TGRS