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

Year: 2025

Type: article

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.

Source: Pediatric Dermatology

DOI: 10.1111/pde.70000

Authors: Radhika Gupta, Alisa Ho, Lars Brichta, Albert C. Yan

Institutions: University of Pennsylvania, Changi General Hospital, Children's Hospital of Philadelphia

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,920