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Ataxia-Telangiectasia: A Syndrome with Characteristic Cutaneous Manifestations

Ataxia-Telangiectasia: A Syndrome with Characteristic Cutaneous Manifestations Abstract Cerebellar ataxia with ocular and cutaneous telangiectasia was first described in a 9-year-old Caucasian boy by Madame Louis-Bar1 in 1941. The next report in which there were similar findings was made in 1957 by Wells and Shy.2 These authors described two sisters who at the ages of 5 and 7 years experienced the onset of progressive ataxia followed, approximately 3 years later, by oculocutaneous telangiectasia. In 1957, Biemond3 also reported 4 similar cases, including 2 necropsies. In 1958, Boder and Sedgwick4 described 8 cases under the title "Ataxia-Telangiectasia." At approximately the same time 2 additional cases were reported by Centerwall and Miller.5 Since 1958 there have been additional sporadic reports7,9 bringing the total number of known cases of this unusual syndrome to 24. The syndrome, as described by Boder and Sedgwick, has 4 main features— progressive cerebellar ataxia, progressive oculocutaneous telangiectasia, frequent sinopulmonary infections, References 1. Louis-Bar (Mme): Sur un syndrome pro gressif comprenant des télangiectasies capillaires cutanées et conjonctivales symétriques, à disposition naevoïde et des troubles cérébelleux , Confini. neurol. 4:32-42, 1941.Crossref 2. Wells, C. E., and Shy, G. M.: Progressive Familial Choreoathetosis with Cutaneous Telangiectasia , J. Neurol. Neurosurg. & Psychiat. 20: 98-104, 1957. 3. Biemond, A., cited by Boder and Sedgwick.4 4. Boder, E., and Sedgwick, R. P.: Ataxia-Telangiectasia , Pediatrics , 21:526-552, 1958. 5. Centerwall, W. R., and Miller, M. M.: Ataxia, Telangiectasia, and Sinopulmonary Infections , A.M.A. J. Dis. Child. 95:385-396, 1958. 6. Smith, J. L., and Cogan, D. G.: Ataxia-Telangiectasia , A.M.A. Arch. Ophth. 62:364-369, 1959. 7. Andrews, B. F.; Kopack, F. M., and Bruton, O. C.: A Syndrome of Ataxia, Oculocutaneous Telangiectasia, and Sinopulmonary Infections , U.S. Armed Forces M.J. 11:587-592, 1960. 8. Davis, M. J., and Lorincz, A. L.: An Improved Technic for Capillary Microscopy of the Skin , J. Invest. Dermat. 28:283-290, 1957. 9. Siekert, R. G.; Keith, H. M., and Dion, F. R.: Ataxia-Telangiectasia in Children , Proc. Staff Meet. Mayo Clin. 34:581-587, 1959. 10. Davis, M. J., and Lawler, J. C.: The Capillary Circulation of the Skin , A.M.A. Arch. Dermat. 77:690-703, 1958. 11. Bloom, D.: Congenital Telangiectatic Erythema Resembling Lupus Erythematosus in Dwarfs , A.M.A. J. Dis. Child. 88:754-758, 1954. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

Ataxia-Telangiectasia: A Syndrome with Characteristic Cutaneous Manifestations

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Publisher
American Medical Association
Copyright
Copyright © 1960 American Medical Association. All Rights Reserved.
ISSN
0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.1960.01580060091013
Publisher site
See Article on Publisher Site

Abstract

Abstract Cerebellar ataxia with ocular and cutaneous telangiectasia was first described in a 9-year-old Caucasian boy by Madame Louis-Bar1 in 1941. The next report in which there were similar findings was made in 1957 by Wells and Shy.2 These authors described two sisters who at the ages of 5 and 7 years experienced the onset of progressive ataxia followed, approximately 3 years later, by oculocutaneous telangiectasia. In 1957, Biemond3 also reported 4 similar cases, including 2 necropsies. In 1958, Boder and Sedgwick4 described 8 cases under the title "Ataxia-Telangiectasia." At approximately the same time 2 additional cases were reported by Centerwall and Miller.5 Since 1958 there have been additional sporadic reports7,9 bringing the total number of known cases of this unusual syndrome to 24. The syndrome, as described by Boder and Sedgwick, has 4 main features— progressive cerebellar ataxia, progressive oculocutaneous telangiectasia, frequent sinopulmonary infections, References 1. Louis-Bar (Mme): Sur un syndrome pro gressif comprenant des télangiectasies capillaires cutanées et conjonctivales symétriques, à disposition naevoïde et des troubles cérébelleux , Confini. neurol. 4:32-42, 1941.Crossref 2. Wells, C. E., and Shy, G. M.: Progressive Familial Choreoathetosis with Cutaneous Telangiectasia , J. Neurol. Neurosurg. & Psychiat. 20: 98-104, 1957. 3. Biemond, A., cited by Boder and Sedgwick.4 4. Boder, E., and Sedgwick, R. P.: Ataxia-Telangiectasia , Pediatrics , 21:526-552, 1958. 5. Centerwall, W. R., and Miller, M. M.: Ataxia, Telangiectasia, and Sinopulmonary Infections , A.M.A. J. Dis. Child. 95:385-396, 1958. 6. Smith, J. L., and Cogan, D. G.: Ataxia-Telangiectasia , A.M.A. Arch. Ophth. 62:364-369, 1959. 7. Andrews, B. F.; Kopack, F. M., and Bruton, O. C.: A Syndrome of Ataxia, Oculocutaneous Telangiectasia, and Sinopulmonary Infections , U.S. Armed Forces M.J. 11:587-592, 1960. 8. Davis, M. J., and Lorincz, A. L.: An Improved Technic for Capillary Microscopy of the Skin , J. Invest. Dermat. 28:283-290, 1957. 9. Siekert, R. G.; Keith, H. M., and Dion, F. R.: Ataxia-Telangiectasia in Children , Proc. Staff Meet. Mayo Clin. 34:581-587, 1959. 10. Davis, M. J., and Lawler, J. C.: The Capillary Circulation of the Skin , A.M.A. Arch. Dermat. 77:690-703, 1958. 11. Bloom, D.: Congenital Telangiectatic Erythema Resembling Lupus Erythematosus in Dwarfs , A.M.A. J. Dis. Child. 88:754-758, 1954.

Journal

Archives of DermatologyAmerican Medical Association

Published: Dec 1, 1960

References