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

TL;DR

A 5-year-old boy with KID syndrome showed improvement in scalp lesions after using mefenamic acid, suggesting a new treatment possibility.

Contribution

This case report introduces topical mefenamic acid as a potential novel therapy for KID syndrome.

Findings

Topical mefenamic acid significantly improved persistent scalp lesions in a pediatric KID syndrome patient.

The treatment was well-tolerated and provided pain relief and visible clinical improvement.

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.

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