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William B. Reed, MD; William L. Epstein, MD; Elena Boder, MD; Robert Sedgwick, MD

JAMA. 1966;195(9):746-753.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

Although the cutaneous aspects of ataxia-telangiectasia (AT) are emphasized in the name, there have been no extensive clinical and histopathological studies of the skin of these patients. The immunologic deficiencies and the minimal thymic activity was first noted by Peterson, Kelly, and Good⁵⁶ and confirmed by others.^27,30,65,77 We wish to report the dermatological findings in 22 patients with AT (Table 1). Four of these patients were previously reported in detail by Boder and Sedgwick^12,14 and one by Centerwall and Miller.²²

Cardinal Features

The cardinal features of AT are progressive cerebellar ataxia beginning in infancy, progressive telangiectasia beginning on the exposed bulbar conjunctiva, tendency to sinopulmonary infections leading to bronchiectasis, apraxia of eye movements simulating ophthalmoplegia, and high familial incidence.

Other less striking features are unusual facial and postural attitudes, variable choreoathetoid or ticlike movements, occasional myoclonic jerks, cerebellar speech, drooling, internal strabismus, and growth retardation. Although . . . [Full Text PDF of this Article]

Author Affiliations
From the Division of Dermatology, Department of Medicine, University of California Medical Center, San Francisco (Dr. Epstein), and the departments of pediatrics and neurology, University of Southern California School of Medicine, Los Angeles (Drs. Boder and Sedwick).

Footnotes
The Ataxia-Telangectasia Contributions are available as a single reprint. Address requests to JAMA Reprint Service, 535 N Dearborn St, Chicago 60610.

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