Cargando…
Darier Disease – A Multi-organ Condition?
Darier disease is a severe, rare autosomal dominant inherited skin condition caused by mutations in the ATP2A2 gene encoding sarcoendoplasmic reticulum Ca(2+)-ATPase isoform 2 in the endoplasmic reticulum. Since sarcoendoplasmic reticulum Ca(2+)-ATPase isoform 2 is expressed in most tissues, and int...
Autores principales: | , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Society for Publication of Acta Dermato-Venereologica
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9364244/ https://www.ncbi.nlm.nih.gov/pubmed/33606037 http://dx.doi.org/10.2340/00015555-3770 |
Sumario: | Darier disease is a severe, rare autosomal dominant inherited skin condition caused by mutations in the ATP2A2 gene encoding sarcoendoplasmic reticulum Ca(2+)-ATPase isoform 2 in the endoplasmic reticulum. Since sarcoendoplasmic reticulum Ca(2+)-ATPase isoform 2 is expressed in most tissues, and intracellular calcium homeostasis is of fundamental importance, it is conceivable that other organs besides the skin may be involved in Darier disease. This review focusses on the association of Darier disease with other organ dysfunctions and diseases, emphasizing their common molecular pathology. In conclusion, Darier disease should be considered a systemic condition that requires systemic and disease mechanism targeted treatments. |
---|