Human skin's structural integrity is protected by a variety of cells. Mutations in one of these cells can fully destroy the function of these vital networks, resulting in cell separation, blistering, and other phenotypes seen in skin disease. Mendelian human skin disorders include pigmentary disorders, keratosis, blistering disorders, ectodermal dysplasia, and other congenital hereditary skin conditions that follow the Mendelian inheritance pattern. Some Mendelian skin disorders are genetically and prototypically heterogeneous. Thus, a precise genetic diagnosis of a Mendelian skin condition is crucial for providing patients with information about the disease's course, prognosis, and management.
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.
Human skin's structural integrity is protected by a variety of cells. Mutations in one of these cells can fully destroy the function of these vital networks, resulting in cell separation, blistering, and other phenotypes seen in skin disease. Mendelian human skin disorders include pigmentary disorders, keratosis, blistering disorders, ectodermal dysplasia, and other congenital hereditary skin conditions that follow the Mendelian inheritance pattern. Some Mendelian skin disorders are genetically and prototypically heterogeneous. Thus, a precise genetic diagnosis of a Mendelian skin condition is crucial for providing patients with information about the disease's course, prognosis, and management.
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.
