Stevens-Johnson syndrome
A serious systemic (bodywide) allergic reaction with a characteristic rash involving the skin and mucous membranes, including the buccal mucosa (inside of the mouth), conjunctiva, and genital areas. Abbreviated SJS. The disease is due to a hypersensitive (allergic) reaction to one of a number of immunologic stimuli including drugs and infectious agents. Complications can include hepatitis, nephritis, gastrointestinal bleeding, pneumonia, arthritis, arthralgia, fever, and myalgia. The diagnosis of SJS is usually made when the characteristic rash appears 1 to 3 weeks after exposure to a known stimulus and it cannot be explained by another diagnosis. The treatment depends, in part, on the suspected precipitating cause. Also known as erythema multiforme.
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One form of Stickler syndrome is due to mutation in the COL2A1 gene on chromosome 12 in region 12q13.11-q13.2. It is termed Stickler syndrome, type I and symbolized STL1. (It is alternatively known as Vitreous type Stickler syndrome; Membranous vitreous type Stickler syndrome; and Hereditary progressive arthroophthalmopathy or AOM.) A second form of Stickler syndrome […]
- Stickler, Gunnar B.
German-American pediatrician Gunnar B. Stickler (1925-) who first described the genetic disorder of collagen known today as Stickler syndrome. After graduating in medicine in Munich, Dr. Stickler emigrated in 1951 to the USA. He worked for many years at the Mayo Clinic in Rochester, Minnesota where he saw a 12-year-old boy with bony enlargement of […]