Hereditary benign intraepithelial dyskeratosis

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Synonyms: HBID | Hereditary benign corneal intraepithelial dyskeratosis

A rare genetic superficial corneal dystrophy disease characterized by white elevated epithelial plaques located on the bulbar conjunctiva (sometimes with encroachment of the cornea) and oral mucosa (in any part of the oral cavity) associated with dilated hyperemic conjunctival blood vessels observed mainly in Haliwa-Saponi Native American descendents. Patients may be asymptomatic or present with ocular itching superficial corneal scarring excessive lacrimation photophobia and visual loss due to corneal opacity. Histologically both ocular and oral lesions display acanthosis with hyperkeratosis and prominent dyskeratosis.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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