Eye
Conjunctiva
Hereditary benign intraepithelial dyskeratosis

Author: Deepali Jain, M.D. (see Authors page)

Revised: 18 April 2018, last major update March 2013

Copyright: (c) 2004-2018, PathologyOutlines.com, Inc.

PubMed Search: Hereditary benign intraepithelial dyskeratosis [title]

Cite this page: Jain, D. Conjunctiva: hereditary benign intraepithelial dyskeratosis. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/eyehereditarybenign.html. Accessed November 12th, 2018.
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
Clinical images

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Epibulbar leukoplakic
conjunctival lesion

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)
Microscopic (histologic) images

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Hyperplastic squamous epithelium
with multilayered parakeratotic
mantle of pyknotic nuclei within
eosinophilic ghosts of epithelial cells

Cytology images

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Cells with homogenously
dense orange cytoplasm and
sometimes pyknotic nuclei

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
Molecular / cytogenetics images

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Segregation of HBID duplication

Differential diagnosis