Gorlin syndrome
The nevoid basal cell carcinoma syndrome, a genetic disorder inherited in an autosomal dominant manner and characterized by a broad face, rib malformations, and an extraordinary predisposition to basal cell carcinoma, a type of skin cancer.
The gene for Gorlin syndrome has been mapped to chromosome 9 and has been identified as PTCH, the human homolog of the Drosophila “patched” gene PTC.
The syndrome had been previously described but it was first delineated in its full extent in 1960 by Robert J Gorlin and Robert W Goltz. Although Dr. Gorlin described many syndromes, none is more closely connected with his name than this syndrome. It has also been called the basal cell nevus syndrome (BCNS), nevoid basal cell carcinoma syndrome (NBCCS), and the Gorlin-Goltz syndrome.
.
Read Also:
- Gottron sign
A scaly, patchy redness over the knuckles seen in patients with dermatomyositis, an inflammatory muscle disorder. (See polymyositis).
- Gout
Condition characterized by abnormally elevated levels of uric acid in the blood, recurring attacks of joint inflammation (arthritis), deposits of hard lumps of uric acid in and around the joints, and decreased kidney function and kidney stones. Uric acid is a breakdown product of purines, that are part of many foods we eat. The tendency […]
- Gout, tophaceous
A form of chronic gout whereby nodular masses of uric acid crystals (tophi) are deposited in different soft tissue areas of the body. Even though tophi are most commonly found as hard nodules around the fingers, at the tips of the elbows, and around the big toe, tophi nodules can appear anywhere in the body. […]
- Gouty arthritis
An attack that is usually extremely painful of joint inflammation due to deposits of uric acid crystals in the joint fluid (synovial fluid) and joint lining (synovial lining). Intense joint inflammation occurs as white blood cells engulf the uric acid crystals, causing pain, heat, and redness of the joint tissues. The term “gout” commonly is […]
- Gower syndrome (situational syncope)
The temporary loss of consciousness in particular kinds of situations. (Syncope is temporary loss of consciousness or, in plain English, fainting). The situations that trigger this reaction are diverse and include having blood drawn, straining while urinating or defecating or coughing. The reaction also can be due to the emotional stress of fear or pain. […]