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Hereditary Benign Intraepithelial Dyskeratosis: I. Ocular Manifestations

Hereditary Benign Intraepithelial Dyskeratosis: I. Ocular Manifestations Abstract The disease described here is considered to be a previously unreported entity affecting mucous membranes of the eye and mouth. The eye lesions occur bilaterally and involve the interpalpebral conjunctiva; in the mouth there are alterations of the buccal mucosa. Typical changes at these sites may be observed in early childhood and persist throughout life with variable intensity. The clinical picture shows considerable diversity, but the histopathology has characteristics common to both lesions and thus supports the clinical impression of a single disease process. There is no sex predominance and as far as is known the disease is inherited as a simple Mendelian dominant. The present report is concerned primarily with the ophthalmologic aspects of this disease. Information on the oral manifestations of this dyskeratosis and summary data on its hereditary transmission are given in a second paper in this series by C. J. Witkop Jr., C. H. Shankle, J. References 1. Examinations were carried out in the Laboratory for Clinical Investigations of the National Institute of Allergy and Infectious Diseases. 2. Witkop, C. J., Jr.; Shankle, C. H.; Graham, J. B.; Murray, M. R.; Rucknagel, D. L., and Byerly, B. H.: Hereditary Benign Intraepithelial Dyskeratosis: II. Oral Manifestations and Hereditary Transmission, to be published. 3. Pillat, A.: Über Präxerosis und Xerosis corneae als selbständige Krankheitsbilder der Mangelerkrankung des Auges beim Erwachsenen , von Graefes Arch. Ophth. 124:486-506, 1930.Crossref 4. Pillat, A.: Bakteriologische Befunde bei Präxerosis corneae , von Graefes Arch. Ophth. 125:173-206, 1930.Crossref 5. Darier, J.: La dermatose précancéreuse de Bowen dyskératose lenticulaire et en disques , Ann. dermat. et syph. 5:449-471, 1914-1915. 6. Darier, J.: Sabourand; Gougerot; Melian; Pantrier; Ravant; Ségary, and Simon: Altérations des cellules malpighiennes , Nouv. prat. derm. 1:313-321, 1936. 7. Thibierge, G.: Cas extraordinaire d'ichthyose generalisée avec altérations des muqueuses buccale et nasale et des cornées , Ann. dermat. et syph. 3:717-728, 1892. 8. Komoto, J.: Über einen Fall von Keratosis der Kornea und der Bindehaut mit pathologisch anatomischem Befund , Klin. Monatsbl. Augenh. 47:259-268, 1909. 9. Brünauer, S. R.: Zur Symptomalogie und Histologie der kongenitalen Dyskeratosen , Dermat. Ztschr. 42:6-26, 1925.Crossref 10. Cannon, A. B.: White Sponge Nevus of the Mucosa (Naevus Spongiosus Albus Mucosae) , Arch. Dermat. & Syph. 31:365-370, 1935. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png A.M.A. Archives of Ophthalmology American Medical Association

Hereditary Benign Intraepithelial Dyskeratosis: I. Ocular Manifestations

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Publisher
American Medical Association
Copyright
Copyright © 1960 American Medical Association. All Rights Reserved.
ISSN
0096-6339
DOI
10.1001/archopht.1960.00950020423004
Publisher site
See Article on Publisher Site

Abstract

Abstract The disease described here is considered to be a previously unreported entity affecting mucous membranes of the eye and mouth. The eye lesions occur bilaterally and involve the interpalpebral conjunctiva; in the mouth there are alterations of the buccal mucosa. Typical changes at these sites may be observed in early childhood and persist throughout life with variable intensity. The clinical picture shows considerable diversity, but the histopathology has characteristics common to both lesions and thus supports the clinical impression of a single disease process. There is no sex predominance and as far as is known the disease is inherited as a simple Mendelian dominant. The present report is concerned primarily with the ophthalmologic aspects of this disease. Information on the oral manifestations of this dyskeratosis and summary data on its hereditary transmission are given in a second paper in this series by C. J. Witkop Jr., C. H. Shankle, J. References 1. Examinations were carried out in the Laboratory for Clinical Investigations of the National Institute of Allergy and Infectious Diseases. 2. Witkop, C. J., Jr.; Shankle, C. H.; Graham, J. B.; Murray, M. R.; Rucknagel, D. L., and Byerly, B. H.: Hereditary Benign Intraepithelial Dyskeratosis: II. Oral Manifestations and Hereditary Transmission, to be published. 3. Pillat, A.: Über Präxerosis und Xerosis corneae als selbständige Krankheitsbilder der Mangelerkrankung des Auges beim Erwachsenen , von Graefes Arch. Ophth. 124:486-506, 1930.Crossref 4. Pillat, A.: Bakteriologische Befunde bei Präxerosis corneae , von Graefes Arch. Ophth. 125:173-206, 1930.Crossref 5. Darier, J.: La dermatose précancéreuse de Bowen dyskératose lenticulaire et en disques , Ann. dermat. et syph. 5:449-471, 1914-1915. 6. Darier, J.: Sabourand; Gougerot; Melian; Pantrier; Ravant; Ségary, and Simon: Altérations des cellules malpighiennes , Nouv. prat. derm. 1:313-321, 1936. 7. Thibierge, G.: Cas extraordinaire d'ichthyose generalisée avec altérations des muqueuses buccale et nasale et des cornées , Ann. dermat. et syph. 3:717-728, 1892. 8. Komoto, J.: Über einen Fall von Keratosis der Kornea und der Bindehaut mit pathologisch anatomischem Befund , Klin. Monatsbl. Augenh. 47:259-268, 1909. 9. Brünauer, S. R.: Zur Symptomalogie und Histologie der kongenitalen Dyskeratosen , Dermat. Ztschr. 42:6-26, 1925.Crossref 10. Cannon, A. B.: White Sponge Nevus of the Mucosa (Naevus Spongiosus Albus Mucosae) , Arch. Dermat. & Syph. 31:365-370, 1935.

Journal

A.M.A. Archives of OphthalmologyAmerican Medical Association

Published: Mar 1, 1960

References

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