About this Research Topic
Over the last decades, significant discoveries have been made in the field of genodermatosis, including novel pathogenic genes, mutations, and genotype-phenotype correlations. Additionally, there have also been several reports of new pathomechanisms and mechanism-based treatments for human Mendelian skin disorders. This Research Topic will include studies that reflect the most recent clinical and molecular advances in Mendelian skin diseases. Hopefully, these recent results will help dermatologists gain a better understanding of these conditions and pave the way for more precise care for these difficult diseases.
We welcome submissions of original research papers, reviews, and methods, including (but not limited to) research on the following sub-themes:
• Diagnostic algorithm, differential diagnosis, management of human Mendelian skin diseases.
• Experimental models (in vivo or in vitro) that help to gain a better understanding of the clinical features, pathogenesis or treatment of diseases or genotype-phenotype correlations of human Mendelian skin diseases.
•Identification of novel genes of human Mendelian skin disease
Disclaimer: We welcome submissions of different types of related manuscripts, but the report of known variants in known genes or new pathogenic variants in known genes in which the patient has a phenotype overlapping with what is known about a disorder would be rejected without peer review, unless in either case there is an unexpected treatment or clinical presentation that goes far beyond what is already known.
Keywords: Mendelian Skin Disorders, Diagnostic algorithm, Mutation, Molecular mechanisms, Genotype–phenotype correlations, Therapy
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.