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Hunter Steinitz (born October 17, 1994) as of June 2010 was 16 and one of only twelve Americans living with the disease, and was profiled on National Geographic's "Extraordinary Humans: Skin" special. [37] Mui Thomas (born in 1992 in Hong Kong) was 24 as of 2016 and qualified as the first rugby referee with harlequin ichthyosis. [38]
Ichthyosis (also named fish scale disease) [1] is a family of genetic skin disorders characterized by dry, thickened, scaly skin. [2] The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). [3]
Kindler syndrome is an autosomal recessive genodermatosis.The KIND1 gene mutated in Kindler syndrome codes for the protein kindlin-1, which is thought to be active in the interactions between actin and the extracellular matrix (focal adhesion plaques). [6]
Epidermolysis bullosa acquisita, also known as acquired epidermolysis bullosa, is a longterm autoimmune blistering skin disease. [1] It generally presents with fragile skin that blisters and becomes red with or without trauma. [2] Marked scarring is left with thin skin, milia and nail changes. [3] It typically begins around age 50. [2]
Any part of the skin surface can be involved. Oral lesions are present in a minority of cases. [2] The disease may be acute, but can last from months to years with periods of exacerbation and remission. [3] Several other skin diseases may have similar symptoms.
Dermatomyositis (DM) is a long-term inflammatory autoimmune disorder which affects the skin and the muscles. Its symptoms are generally a skin rash and worsening muscle weakness over time. These may occur suddenly or develop over months. Other symptoms may include weight loss, fever, lung inflammation, or light sensitivity.
Generalized Pustular Psoriasis (GPP) is a rare skin disease, in which pus-filled blisters often cover large areas of the body and typically cause fever, shivers, intense itching and joint pain.
Muir–Torre syndrome is a rare hereditary, autosomal dominant cancer syndrome [1]: 663 that is thought to be a subtype of HNPCC (Lynch syndrome). Individuals are prone to develop cancers of the colon, genitourinary tract, and skin lesions, such as keratoacanthomas and sebaceous tumors.