Also known as congenital telangiectatic erthema - is a rare autosomal recessive disorder. It is common in the Ashkenazi Jews.
Mutation and DNA damage due to UV rays and radiation may also lead to signs and symptoms.
- Growth retardation
- Recurrent URI and GI infections
- Telangiectatic erythema
- Predisposition to malignancies (lymphoma, leukemias, SCC etc)