Tufted angioma


Type of disease: Rare conditions

Tufted angioma is a rare disease that develops in individuals during infancy or young childhood. It is very similar to kaposiform hemangioendothelioma (KHE). It is characterized by purplish-red or red-brown patches that usually appear on the upper back, neck, or shoulders. The size can range from smaller than one centimeter to a few centimeters in size. They may feel rubbery and may be painful to touch. There also may be small growths, called nodules, on the patches. Excess sweating in and around the patch itself is common. Surgery may be done to remove the patches. There are currently no other treatments or therapies for the patches. Sometimes they go away on their own.

Tufted angioma is an autosomal dominant genetic disease. This means the condition is inherited through genes (passed through families). We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. If one parent has the mutation for this gene, there is a 50% chance their child will also have the mutation. Hereditary tufted angiomas also have reduced penetrance meaning that although a person may have the gene mutation, they may not show symptoms. Speak with your doctor about the best personal plan of action.

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