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Paraneoplastic pemphigus (PNP) is an autoimmune disorder stemming from an underlying tumor. It is hypothesized that antigens associated with the tumor trigger an immune response resulting in blistering of the skin and mucous membranes .
Callous-unemotional traits (CU) are distinguished by a persistent pattern of behavior that reflects a disregard for others, and also a lack of empathy and generally deficient affect. The interplay between genetic and environmental risk factors may play a role in the expression of these traits as a conduct disorder (CD). While originally ...
Central serous chorioretinopathy (CSC or CSCR), also known as central serous retinopathy (CSR), is an eye disease that causes visual impairment, often temporary, usually in one eye. [ 1 ] [ 2 ] When the disorder is active it is characterized by leakage of fluid under the retina that has a propensity to accumulate under the central macula.
Ataxia telangiectasia (Louis–Bar syndrome) Encephalotrigeminal angiomatosis (Sturge–Weber syndrome) (encephalofacial cavernous hemangiomatosis) Neurofibromatosis (von Recklinghausen's disease) Tuberous sclerosis (Bourneville's syndrome) Wyburn–Mason syndrome (racemose hemangiomatosis)
The cause of the disease is a haploinsufficiency of the enzyme ATP2C1; [7] the ATP2C1 gene is located on chromosome 3, which encodes the protein hSPCA1.A mutation on one copy of the gene causes only half of this necessary protein to be made and the cells of the skin do not adhere together properly due to malformation of intercellular desmosomes, causing acantholysis, blisters and rashes.
Pemphigus erythematosus (Senear-Usher Syndrome) is a rare form of pemphigus with features of pemphigus foliaceus and lupus erythematosus. [ 1 ] [ 2 ] It was first described by Francis Senear and Barney Usher at the University of Illinois College of Medicine in 1926. [ 3 ]
Pseudoexfoliation syndrome, often abbreviated as PEX [1] and sometimes as PES or PXS, is an aging-related systemic disease manifesting itself primarily in the eyes which is characterized by the accumulation of microscopic granular amyloid-like protein fibers. [2] Its cause is unknown, although there is speculation that there may be a genetic ...
The tissue is skin from a patient with Pemphigus vulgaris. Note the intercellular IgG deposits in the epidermis and the early intraepidermal vesicle caused by acantholysis. Pemphigus (/ ˈ p ɛ m f ɪ ɡ ə s / or / p ɛ m ˈ f aɪ ɡ ə s /) is a rare group of blistering autoimmune diseases that affect the skin and mucous membranes. [1]