Familial cold urticaria
Familial cold urticaria (also properly known as familial cold autoinflammatory syndrome, FCAS) is an autosomal dominant condition characterized by rash, conjunctivitis, fever/chills and arthralgias elicited by exposure to cold - sometimes temperatures below 22 °C (72 °F).It has been mapped to CIAS1 and is a slightly milder member of the disease family including Muckle–Wells syndrome and NOMID. It is rare and is estimated as having a prevalence of 1 per million people and mainly affects Americans and Europeans.FCAS is one of the cryopyrin-associated periodic syndromes (CAPS) caused by mutations in the CIAS1/NALP3 (aka NLRP3) gene at location 1q44.The effect of FCAS on the quality of life of patients is far reaching. A survey of patients in the United States in 2008 found that "[t]o cope with their underlying disease and to try to avoid symptomatic, painful, flares patients reported limiting their work, school, family, and social activities. Seventy-eight percent of survey participants described an impact of the disease on their work, including absenteeism and impaired job advancement; frequently, they quit their job as a consequence of their disease".Treatment using anakinra (Kineret) has been shown effective for FCAS, although this does mean daily injections of the immunosuppressant into an area such as the lower abdomen. The monoclonal antibody canakinumab (Ilaris) is also used. Signs and symptoms
When the body is exposed to the cold in individuals affected by the condition, hives appear and the skin in the affected area typically becomes itchy.
A cirsoid aneurysm, also referred to as an arteriovenous hemangioma is the dilation of a group of blood vessels due to congenital malformations with arterio venous (AV) shunting. "Cirsoid" means resembling a varix. They are most common on the head or neck.Cirsoid aneurysms appear as nodules or papules. Histologically, they are composed of both thick- and thin-walled blood vessels. == References ==