Cutaneous Manifestations of Ataxia -Telangiectasia

William B. Reed, MD; William L. Epstein, MD; Elena Boder, MD; Robert Sedgwick, MD
JAMA. 1966;195(9):746-753. doi:10.1001/jama.1966.03100090080018.
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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 Sedgwick12,14 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


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