This website provides information on patients with mutations in the KLHL24 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the KLHL24 gene is a multisystem disorder characterized by congenital skin defects, skin blistering, skin atrophy and scarring, skin pigmentation anomalies, follicular atrophoderma, alopecia, nail dystrophy, cardiomyopathy. Not all individuals with a mutation in the KLHL24 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the KLHL24 gene.

Cristina Has, MD, Department of Dermatology, Faculty of Medicine, University of Freiburg, Germany, Cristina.has@uniklinik-freiburg.de