Ectodermal Dysplasia–skin Fragility Syndrome

	Ectodermal Dysplasia–skin Fragility Syndrome Skin fragility syndrome (also known as "plakophilin 1 deficiency") is a cutaneous condition characterized by trauma-induced blisters and erosions. It is associated with ''PKP1''. See also * List of conditions caused by problems with junctional proteins Mutations of proteins that hold the cells of the skin together can cause disease. Autoantibodies against proteins that hold the cells of the skin together can also cause disease. See also * List of keratins expressed in the human integumen ... References External links Genodermatoses Syndromes {{Dermatology-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Cutaneous Condition A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. Conditions of the human integumentary system constitute a broad spectrum of diseases, also known as dermatoses, as well as many nonpathologic states (like, in certain circumstances, melanonychia and racquet nails). While only a small number of skin diseases account for most visits to the physician, thousands of skin conditions have been described. Classification of these conditions often presents many nosological challenges, since underlying causes and pathogenetics are often not known. Therefore, most current textbooks present a classification based on location (for example, conditions of the mucous membrane), morphology ( chronic blistering conditions), cause (skin conditions result ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Blister A blister is a small pocket of body fluid (lymph, serum, plasma, blood, or pus) within the upper layers of the skin, usually caused by forceful rubbing (friction), burning, freezing, chemical exposure or infection. Most blisters are filled with a clear fluid, either serum or plasma. However, blisters can be filled with blood (known as " blood blisters") or with pus (for instance, if they become infected). The word "blister" entered English in the 14th century. It came from the Middle Dutch and was a modification of the Old French , which meant a leprous nodule—a rise in the skin due to leprosy. In dermatology today, the words ''vesicle'' and ''bulla'' refer to blisters of smaller or greater size, respectively. To heal properly, a blister should not be popped unless medically necessary. If popped, the bacteria can spread. The excess skin should not be removed because the skin underneath needs the top layer to heal properly. Causes A blister may form when the skin has ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	PKP1 Plakophilin-1 is a protein that in humans is encoded by the ''PKP1'' gene. Function This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Interactions PKP1 has been shown to interact with Desmoplakin. See also * Skin fragility syndrome Skin fragility syndrome (also known as "plakophilin 1 deficiency") is a cutaneous condition characterized by trauma-induced blisters and erosions. It is associated with ''PKP1''. See also * List of conditions caused by problems with junctional ... References Further reading * * * * * * * * * * * * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	List Of Conditions Caused By Problems With Junctional Proteins Mutations of proteins that hold the cells of the skin together can cause disease. Autoantibodies against proteins that hold the cells of the skin together can also cause disease. See also * List of keratins expressed in the human integumentary system * List of target antigens in pemphigus * List of immunofluorescence findings for autoimmune bullous conditions * List of cutaneous conditions * List of genes mutated in cutaneous conditions * List of histologic stains that aid in diagnosis of cutaneous conditions * Keratoderma Keratoderma is a hornlike skin condition. Classification The keratodermas are classified into the following subgroups:Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . Congenital * Simple ker ... References * * {{DEFAULTSORT:Cutaneous conditions caused by problems with junctional proteins Junctional proteins Dermatology-related lists ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Genodermatoses Genodermatosis is a hereditary skin disease with three inherited modes including single gene inheritance, multiple gene inheritance and chromosome inheritance. There are many different types of genodermatosis, the prevalence of genodermatosis ranges from 1 per 6000 people to 1 per 500,000 people.Fields, D. (2019, June). Types of Genodermatoses. Retrieved September 08, 2020, from https://www.news-medical.net/health/Types-of-Genodermatoses.aspx Genodermatosis has influence on the texture, color and structure of skin cuticle and connective tissue, specific lesion site and clinical manifestations on the body vary depending on the type. In the spite of the variety and complexity of genodermatosis, there are still some common methods that can help people diagnose. After diagnosis, different types of genodermatosis require different levels of therapy including interventions, nursing interventions and treatments.Fondation René Touraine. (n.d.). Genodermatoses & Rare Skin Disorders - a publ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]