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A Spontaneous Novel c. 679dupG Mutation in the LOR Gene Resulting in Loricrin Keratoderma with Ichthyosis
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ABSTRACT
Palmoplantar keratoderma (PPK) encompasses a heterogeneous group of keratinizing disorders with diverse clinical phenotypes. Loricrin keratoderma (LK) is a distinct form of hereditary PPK caused by pathogenic variants in the LOR gene, which encodes loricrin, a key protein in the epidermal cornified envelope (CE) [1]. We describe a patient with a classic LK presentation and a novel duplication mutation in LOR.
