Novel Clinical Observations Indicative of Epidermolysis Bullosa Simplex Associated With KLHL24.

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is a genetic condition characterized by skin fragility and blistering due to minimal mechanical trauma. EBS-KLHL24, a rare subtype, arises from pathogenic variants in the KLHL24 gene and has unique clinical features, including systemic involvement. We present a case of a 16-year-old patient with EBS-KLHL24 exhibiting novel clinical findings, including significant oral...

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