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Four Hereditary Mucosal Syndromes:  Comparative Histology and Exfoliative Cytology of Darier-White's Disease, Hereditary Benign Intraepithelial Dyskeratosis, White Sponge Nevus, and Pachyonychia Congenita

CARL J. WITKOP JR., D.D.S.; ROBERT J. GORLIN, D.D.S.
Arch Dermatol. 1961;84(5):762-771. doi:10.1001/archderm.1961.01580170056008.
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Introduction  White lesions of the oral mucosa, clinically resembling leukoplakia, have been encountered in a variety of conditions. Among these diseases are 4 rare hereditary dyskeratoses: Darier-White's disease,1,2 hereditary benign intraepithelial dyskeratosis,3 white sponge nevus of Cannon,4 and pachyonychia congenita of Jadassohn and Lewandowsky.5 In contrast to leukoplakia, which is characterized by premalignant dyskeratosis, these latter conditions run a chronic but benign course. Leukoplakia is usually localized to one site, while all 4 of the hereditary diseases may show involvement of other structures. A comparative study of tissue sections and exfoliative cytology of the oral lesions of these conditions was undertaken to investigate the cellular abnormalities revealed by this technique. To our knowledge only the exfoliative cytology pattern of hereditary benign intraepithelial dyskeratosis has been reported previously.3

Methods and Materials  Patient material was obtained from families studied by the Genetics Section of the National Institute

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