Hereditary benign intraepithelial dyskeratosis (HBID) is a rare inherited disease characterized by elevated plaques on the ocular and oral mucous membranes. Hereditary benign intraepithelial dyskeratosis is a rare autosomal dominant disease of the conjunctiva and the oral mucosa caused by a duplication of. Context.—Hereditary benign intraepithelial dyskeratosis (HBID) is a rare autosomal dominant disorder characterized by elevated epibulbar and oral plaques.

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No other immediate family members, including his 6 siblings, had a history of ocular, oral or auditory disorders. The absence of coding regions in a duplicated region of 4q35 common to both the individual that we report and previously associated with HBID raises questions regarding the significance of this CNV in the pathogenesis of HBID.

Patients tend to have exacerbations of symptoms in the spring and summer months but alleviation in cooler weather [1] [12]. This patient received a limbal allograft in one eye and did not have recurrence after 1. A Caucasian boy with a history of oral lesions and conjunctival injection from birth developed bilateral corneal opacities at age 5 and underwent penetrating keratoplasty, with recurrence of the corneal opacification shortly after surgery.

Information on the oral manifestations of this dyskeratosis and summary data on its hereditary transmission are given in a second paper in this series by C.

Retrieved from ” https: In addition, the 4q35 locus was not definitively excluded in this family as qPCR amplification of only a single polymorphic marker in 4q35 to demonstrate a normal copy number was performed.

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Hereditary benign intraepithelial dyskeratosis: an evaluation of diagnostic cytology.

Some of these intraepirhelial have ancestory tracing to the Haliwa-Saponi tribe, while others do not [5] [6] [7]. The eye lesions resemble pterygia see Hereditary benign intraepithelial dyskeratosis: No open reading frames or identified genes were found in the Kb duplicated region of 4q. Given these considerations, and in the absence of functional studies, the identified NLRP1 variant can only be considered as potentially pathogenic.

A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis. Patients commonly complain of symptoms of irritation, such as erythema, itching, excessive lacrimation, and photophobia. Plaques that dykeratosis may be more extensive, leading to further exacerbation of symptoms and visual impairment [19] [18] [15].

Significant inferior conjunctival injection, and corneal vascularization and opacification of the previous penetrating keratoplasty are noted OS C. Hereditary benign intraepithelial bemign. Support Center Support Center. The association of HBID with both 4q35 in Native Americans and 17p13 in a Caucasian French family raises the possibility that the phenotypically similar entities described in the different populations are in fact genetically distinct.

Most commonly, neovascularization intgaepithelial superficially, but involvement of the mid to deep stroma has been reported [15]. The location and names of genes in the duplicated regions are shown.

Pathology Outlines – Conjunctiva: hereditary benign intraepithelial dyskeratosis

Epub Jan 16 doi: Sign in to download free article PDFs Sign in to access your subscriptions Sign in to your personal account. Diffuse bulbar conjunctival injection was noted, associated with elevated foci of epithelial thickening and keratinization overlying the limbus Figure 1. The results of this study indicate the diagnosis can also be supported in an appropriate clinical setting when adequate epibulbar cytology preparations are obtained and the characteristic genetic attributes are present.


It is possible that locus heterogeneity exists for HBID, as is the case for many genetic phenotypes given a single medical diagnostic label, such as Meesmann corneal dystrophy.

Results A Caucasian boy with a history of oral lesions and conjunctival injection from birth developed bilateral corneal opacities at age 5 and underwent penetrating keratoplasty, with recurrence of the corneal opacification shortly after surgery. Excision with beta radiation was attempted by Reed et al, but plaques recurred within 5 weeks and became more visually significant [15].

Gray-white, inflamed, horseshoe shaped elevated lesions of conjunctiva and oral mucosa; bilateral corneal involvement Cornea ; We report a spontaneous case of histopathologically-confirmed HBID affecting an individual not of Native American ancestry.

Sign in to make a comment Sign in to your personal account. Analysis of DNA sequence variants detected by high-throughput sequencing. Tzanck smear of the affected mucosa revealed epithelial cells with cytoplasm discolored in a yellow-orange-brown tobacco-like hue so-called ‘tobacco cells’.

After penetrating keratoplasty in one patient, the central graft remained clear for 10 months post-operatively, however, mild peripheral plaque recurrence was reported with neovascularization at the graft margin [15]. Hereditary benign intraepithelial dyskeratosis. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. All cases with the diagnostic cytologic findings of HBID had a duplication in chromosome 4 4q Get free access to newly published articles Create a personal account or sign in to: Oral manifestations and hereditary transmission.