Medical Care

The life span of patients with ataxia-telangiectasia clearly has been prolonged by antibiotic treatment. Prevention of infections by regular injection of immunoglobulins is considered useful. Fetal thymus implants and stimulants of the immunologic system have given inconclusive results.

Treatment of neurologic manifestations is disappointing. Beta-adrenergic blockers may improve fine motor coordination in some cases.

The use and doses of radiation therapy and chemotherapy are controversial. Some reports indicate that standard-dose chemotherapy should be given to each patient with ataxia-telangiectasia with lymphoid malignancies,^{[45, 54]}whereas others advise reduced doses, especially for alkylating agents.^[55]According to some references, bleomycin, actinomycin D, and cyclophosphamide should be avoided.

Regular surveillance of heterozygotes for cancer should be part of family management. ATM heterozygosity was reported to be a risk factor for breast and lung cancers.^{[34, 48, 56]}ATM carriers are also suggested to be more vulnerable at X-radiation, as in many cases breast cancer occurrence was preceded by x-ray exposure.^[56]

Desferrioxamine has been shown to increase genomic stability of ataxia-telangiectasia cells and, therefore, may present a promising tool in ataxia-telangiectasia treatment.^[57]

Concerning the role of increased oxidative stress in ataxia-telangiectasia pathophysiology, several clinical trials based on antioxidants in ataxia-telangiectasia patients have been constructed and are currently underway.^[58]

Guidelines

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Media Gallery

Face of a boy with ataxia-telangiectasia. Apparent ocular telangiectasia.
Close-up view of advanced telangiectasia of the bulbar conjunctiva.
Chest MRI showing a hyperintense lesion in the right mediastinum corresponding to lymphoma.

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Author

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Coauthor(s)

Sergiusz Jozwiak, MD, PhD Professor and Head of Pediatric Neurology, Medical University of Warsaw, Poland

Sergiusz Jozwiak, MD, PhD is a member of the following medical societies: Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Tomasz Kmiec, MD Adjunct Senior Assistant, Department of Child Neurology, Children's Memorial Health Institute of Warsaw, Poland

Disclosure: Nothing to disclose.

Ewa Bernatowska, MD Head, Department of Immunology, The Children's Memorial Health Institute of Warsaw, Poland

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Former Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological Society

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Albert C Yan, MD Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine

Albert C Yan, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology, Society for Pediatric Dermatology, American Academy of Pediatrics

Disclosure: Nothing to disclose.

Ataxia-Telangiectasia Treatment & Management

Medical Care

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