MedGen

Psoriasis (psoriasis vulgaris; PV) is a chronic inflammatory dermatosis that affects approximately 2% of the population. It is characterized by red, scaly skin patches that are usually found on the scalp, elbows, and knees, and may be associated with severe arthritis. The lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. The usual age of onset of psoriasis is between 15 and 30 years, although it can present at any age (summary by Matthews et al., 1996). Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein (123260) (summary by Marrakchi et al., 2011). GPP often presents in patients with existing or prior psoriasis vulgaris; however, GPP can develop without a history of PV (Sugiura et al., 2013). Palmoplantar pustulosis and acrodermatitis continua of Hallopeau represent acral forms of pustular psoriasis that have historically been grouped with GPP (summary by Setta-Kaffetzi et al., 2013). Nestle et al. (2009) provided a detailed review of the pathogenesis and genetics of psoriasis. Genetic Heterogeneity of Psoriasis and Psoriasis Susceptibility PSORS2 (602723) is caused by mutation in the CARD14 gene (607211) on chromosome 17q25, and PSORS14 (614204) is caused by mutation in the IL36RN gene (605507) on chromosome 2q14. Psoriasis susceptibility loci include PSORS1 on 6p21.3; PSORS3 (601454) on 4q; PSORS4 on 1q21; PSORS5 (604316) on 3q21; PSORS6 (605364) on 19p; PSORS7 (605606) on 1p; PSORS8 (610707) on 16q; PSORS9 (607857) on 4q31; PSORS10 (612410) on 18p11; PSORS11 (612599) on 5q31-q33; PSORS12 (612950) on 20q13; PSORS13 (614070), conferred by variation in the TRAF3IP2 gene (607043) on 6q21; and PSORS15 (616106), conferred by variation in the AP1S3 gene (615781) on 2q36. An additional putative psoriasis candidate locus has been reported on 20p (Nair et al., 1997). [from OMIM]

Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene. [from MONDO]

A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). [from HPO]

An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. [from NCI]

An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp. [from NCI]

Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders. [from NCI]