Ataxia-telangiectasia. Review of the literature and a case report

Cutaneous vascular abnormalities are frequently detected on initial examination of newborns. Many of these lesions are common variations of normal lesions such as nevus simplex and strawberry hemangiomas. Some of the vascular abnormalities, however, are a feature of a number of syndromes with multisystemic involvement. These syndromes have been described under the heading of neurocutaneous diseases. Ataxia-telangiectasia is a neurocutaneous syndrome that appears with progressive cerebellar ataxia, oculocutaneous telangiectasias, and abnormalities of many other organs. Oral mucosa is also affected. Current concepts on the pathogenesis of ataxia-telangiectasia and one case of the disease are presented in this article.