☆ 4.6 Letter

KLK11 ichthyosis: large truncal hyperkeratotic pigmented plaques underscore a distinct autosomal dominant disorder of cornification

BRITISH JOURNAL OF DERMATOLOGY (2023)

Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder

Zhuoqing Gong et al.

Summary: Two missense variants in KLK11 affecting Gly50 were identified in three unrelated cases with an autosomal-dominant cornification disorder characterized by abnormal skin desquamation. Experimental analyses confirmed the pathogenicity of these variants and emphasized the important role of KLK11 in the regulation of skin desquamation. This study provides insights into the development of therapeutic options for disorders with skin barrier dysfunction.

BRITISH JOURNAL OF DERMATOLOGY (2023)

添加到收藏夹

Article Multidisciplinary Sciences