ATAXIA-TELANGIECTASIA

Ataxia-telangiectasia is an autosomal recessive inherited multisystem disorder in which DNA repair mechanisms are defective resulting in chromosomal instability, radiosensitivity, and propensity to neoplasia. Ocular telangiectasias develop at 3-–5 years of age. Cutaneous telangiectasias develop later on the face, ears, and elsewhere. Ataxia appears when the child tries to walk. Recurrent sinopulmonary infections affect most and bronchiectasis may develop. There is an increased risk of leukemia or lymphoma. IgA deficiency and elevated alpha fetoprotein levels are seen. Inheritance is AR with variable penetrance. Patients are exquisitely sensitive to radiation therapy. In several series, there is a high incidence of diabetes or abnormal glucose tolerance. Some patients have developed erythematous, atrophic, and often ulcerated lesions which on biopsy show granulomas. Clinically and histologically, they may resemble necrobiosis lipoidica.

References

Telangiectasias of the eye and upper chest and hypopigmented lesion on the arm. JAAD 2013;68;932–936

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