Hereditary benign intraepithelial dyskeratosis

Hereditary benign intraepithelial dyskeratosis is a rare[1] autosomal dominant disease of the conjunctiva and the oral mucosa caused by a duplication of chromosome 4q35.[2] In the mouth it appears similar to white sponge nevus, with painless, diffuse, folded and spongy white plaques.[2] In the eye it appears as gelatinous plaques on bulbar perilimbal conjunctiva.[2]

References

  1. ^ Bui, T; Young, JW; Frausto, RF; Markello, TC; Glasgow, BJ; Aldave, AJ (20 February 2014). "Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity". Ophthalmic Genetics. 37 (1): 76–80. doi:10.3109/13816810.2014.889169. PMC 4139474. PMID 24555743.
  2. ^ a b c Woo SB (2012). Oral Pathology: A Comprehensive Atlas and Text. Elsevier Health Sciences. p. 9. ISBN 978-1-4377-2226-0.
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