Abstract Advances in molecular technology have led to elucidation of the genetic bases of many single-gene inherited and mosaic skin disorders, greatly improving our understanding of these conditions. Genotype–phenotype correlations…
Abstract Darier disease and Hailey–Hailey disease are autosomal dominant genodermatoses caused by mutations in genes encoding Ca 2+ ATPase pumps in the endoplasmic reticulum (SERCA2) and Golgi apparatus (hSPCA1), respectively….
Abstract Morphea and lichen sclerosus are inflammatory skin diseases that lead to cutaneous sclerosis, and in a number of patients, significant morbidity. The underlying pathogenesis is a combination of vascular…
Abstract Allogeneic hematopoietic stem cell transplantation (HSCT) is a potentially curative therapy for a variety of malignant and nonmalignant conditions. However, its use is limited by the risk of graft-versus-host…
Abstract The main function of the epidermis is to provide a barrier between the organism and the environment, thereby protecting against harmful substances and water loss. This barrier is the…
Abstract Proper nutrition is fundamental to human life. From fetal development to adulthood, proper nutrition is essential for survival, physical growth, mental development, productivity, and overall health. The skin, hair,…
Abstract Lupus erythematosus is a multisystem disorder that prominently affects the skin. The most common types of cutaneous lupus are acute cutaneous lupus (ACLE), subacute cutaneous lupus (SCLE), and discoid…
Abstract Cutaneous deposition of calcium has a range of manifestations, from mild to fatal, and a number of etiologies. It is categorized as dystrophic if calcium deposits in pre-existing damaged…
Abstract Human disease can arise from genetic changes ranging from mutations in single nucleotides to alterations affecting entire chromosomes. Genetic skin diseases include Mendelian (monogenic) disorders caused by defects in…
