Eye
Conjunctiva
Other nonneoplastic
Hereditary benign intraepithelial dyskeratosis
Author: Deepali Jain, M.D.
Last author update: 1 March 2013
Last staff update: 24 December 2020
Copyright: 2004-2024, PathologyOutlines.com, Inc.
PubMed Search: Hereditary benign intraepithelial dyskeratosis [title]
Table of Contents
Definition / general | Treatment | Gross description | Microscopic (histologic) description | Electron microscopy description | Molecular / cytogenetics description | Molecular / cytogenetics images | Differential diagnosisCite this page: Jain D. Hereditary benign intraepithelial dyskeratosis. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/eyehereditarybenign.html. Accessed April 19th, 2024.
Definition / general
- Also called Witkop von Sallman syndrome, red eye disease
- Acanthotic and dyskeratotic epithelium of conjunctiva and oral mucosa
- Rare, autosomal dominant disease with incomplete penetrance that usually appears in first decade of life
- Originally described in Haliwa Indians in North Carolina (USA), also elsewhere in US and Europe
- Bilateral lesions of conjunctiva; also oral lesions (J Am Acad Dermatol 2001;45:634)
Treatment
- Excision, but lesions commonly recur; no malignant transformation
Gross description
- Gray-white, inflamed, horseshoe shaped elevated lesions of conjunctiva and oral mucosa; bilateral corneal involvement (Cornea 2011;30:1481)
Microscopic (histologic) description
- Acanthotic and dyskeratotic epithelium of conjunctiva and oral mucosa
- Overlying multilayered parakeratotic mantle with pyknotic nuclei and epithelial ghosts, middle and superficial layers have large squamous cells and dyskeratotic cells but no atypia
- Subepithelial lymphoid infiltrate (Arch Pathol Lab Med 2008;132:1325)
Electron microscopy description
- Numerous vesicular bodies in immature dyskeratotic cells
- Densely packed tonofilaments fill mature dyskeratotic cells which lack cellular interdigitations and desmosomes (Oral Surg Oral Med Oral Pathol 1977;44:567)
Molecular / cytogenetics description
- Associated with 4q35 telomeric region (Am J Hum Genet 2001;68:491)
Molecular / cytogenetics images
Images hosted on other servers:
Segregation of HBID duplication
Differential diagnosis
- Conjunctival dysplasia: atypia, no family history, not bilateral, no oral mucosal involvement
