Telangiectasia

Telangiectasias are small dilated blood vessels near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. They can develop anywhere on the body but are commonly seen on the face around the nose, cheeks, and chin. They can also develop on the legs, specifically on the upper thigh, below the knee joint, and around the ankles. Some telangiectasia are due to developmental abnormalities that can closely mimic the behaviour of benign vascular neoplasms. They may be composed of abnormal aggregations of arterioles, capillaries, or venules. Because telangiectasias are vascular lesions, they blanch when tested with diascopy. There are telangiectasias of the eyes and skin.

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OMIM ID NAME PROTEINS TYPE ALIASES ABBREVIATIONS PATHWAY(S) RELATED
210900 Bloom syndrome RECQL3 (BLM) mental retardation (MR), skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, immunodeficiency, sexual immaturity, sensitivity to radiation, telangiectasia Bloom–Torre–Machacek syndrome BLM
BL
BLS
Fanconi anemia (FA) pathway, homologous recombination (HR)
268400 Rothmund-Thomson syndrome (RTS) RECQL4 (RTS) telangiectasia, premature aging, skeletal abnormalities, risk of malignant disease, skin problem POIKILODERMA ATROPHICANS AND CATARACT RTS

Last modification date: July 2, 2011