epithelial plaques

Dyskeratosis, Hereditary Benign Intraepithelial

Clinical Characteristics
Ocular Features: 

The conjunctival surface has elevated, granular-appearing white epithelial plaques usually in the interpalpebral areas.  These may extend onto the cornea and cause interference with vision.  The plaques may also shed spontaneously.  The lesions may have prominent blood vessels with associated conjunctival hyperemia with considerable cosmetic implications.

The plaque-like growths remain localized and do not invade tissue.  The surface epithelium is hyperkeratotic with acanthosis and individual cell dyskeratoses.

Systemic Features: 

The oral and lingual mucosa may also be involved.


A segment of DNA localized at 4q35 is duplicated resulting in triple alleles for 2 linked markers suggesting that gene duplication is responsible for the disorder.  It occurs almost exclusively among members of a triracial isolate (Haliwa Indians) in North Carolina.

Families with autosomal dominant transmission have been reported.  In one French Canadian family in which mother and son were affected a nonsense mutation in NLRP1 (17p13.2) was found.  This may be a unique disorder.

Autosomal dominant
Treatment Options: 

Local excision as needed.

Article Title: 

Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis

Soler VJ, Tran-Viet KN, Galiacy SD, Limviphuvadh V, Klemm TP, St Germain E, Fourni?(c) PR, Guillaud C, Maurer-Stroh S, Hawthorne F, Suarez C, Kantelip B, Afshari NA, Creveaux I, Luo X, Meng W, Calvas P, Cassagne M, Arne JL, Rozen SG, Malecaze F, Young TL. Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. J Med Genet. 2013 Jan 24. [Epub ahead of print].

PubMed ID: 
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