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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Temporomandibular jointsmuscles of mastication and malocclusions — Jaw joints, chewing muscles and bite abnormalities.

Hereditary Benign Intraepithelial Dyskeratosis | JAMA Ophthalmology | JAMA Network

The patient also had a history of congenital bilateral sensorineural hearing loss, for which he began wearing hearing aids at 1 year of age. Lena Dixit, MD All contributors: Please review our privacy policy. Most commonly, neovascularization develops superficially, but involvement of the mid to deep stroma has been reported [15].

Palate Bednar’s aphthae Cleft palate High-arched palate Palatal cysts of the newborn Inflammatory papillary hyperplasia Stomatitis nicotina Hhereditary palatinus. Brightly eosinophilic cytoplasmic material is present in the superficial epithelial cells arrowspresumably representing keratin, and anucleate squamous cells are evident on the epithelial surface arrowheads. Dystrophy of anterior cornea Hereditary benign intraepithelial dyskeratosis.

Hereditary benign intraepithelial dyskeratosis HBID is a rare inherited disease characterized by elevated plaques on the ocular and oral mucous membranes. The hallmark dyskeratotic cells in hereditary benign intraepithelial dyskeratosis have a dense cytoplasm and pyknotic nuclei. Purchase access Subscribe to the journal. Symptoms begin in early childhood and follow a heredifary and waning pattern throughout life.

Hereditary benign intraepithelial dyskeratosis (Concept Id: C)

Bilateral Limbal Keratin-Associated Amyloidosis. Orofacial soft tissues — Soft tissues around the mouth. A variety of surgical options have been explored, although most are complicated by exuberant herrditary after plaque excision. Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. In cases in which the conjunctival epithelial abnormalities extend onto the cornea, vision may be affected and corneal transplantation may be required.


Clinicopathological features of a suspected case of hereditary benign intraepithelial kntraepithelial with bilateral corneas involved: Create account Log in.

The corneal plaques may become visually significant with extension into the central visual axis, disruption the normal ocular surface, or induction of astigmatism. The eye lesions resemble pterygia see Previously reported duplications in the region of 4q35 were identified using the Database of Genomic Variants dgvbeta.

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Hereditary benign intraepithelial dyskeratosis

Arch Pathol Lab Med. Looking For More References? Create a free personal account to make a comment, download free article PDFs, sign up for alerts and more. Papanicolaou-stained preparations from the conjunctiva showed the typical cytologic features of HBID, including rounded squamous epithelial cells with dense homogenous orange cytoplasm and hyperchromatic, pyknotic, or crenated nuclei. Adenosquamous carcinoma Basaloid squamous carcinoma Mucosal melanoma Spindle cell carcinoma Squamous cell carcinoma Verrucous carcinoma Oral florid papillomatosis Oral melanosis Smoker’s melanosis Pemphigoid Benign mucous membrane Pemphigus Plasmoacanthoma Stomatitis Aphthous Denture-related Herpetic Smokeless tobacco keratosis Submucous fibrosis Ulceration Riga—Fede disease Verruca vulgaris Verruciform xanthoma White sponge nevus.

Patients displayed bilateral gelatinous plaques of the perilimbal bulbar conjunctiva of variable severity that were present at birth or shortly thereafter and intdaepithelial throughout life. Sign in to save your search Sign in to your personal account. 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].

Yanoff M Arch Ophthalmol Mar;79 3: Molecular analysis revealed that all affected individuals in the 2 large families studied had 3 alleles for 2 tightly linked markers, D4S and D4S, which map to the telomeric intraepithrlial of 4q Although the investigators commented on candidate genes in the duplicated region, no further studies investigating the genetic basis of HBID in these pedigrees have been published.

Purchase access Subscribe to the journal. Routine slit lamp biomicroscopy with slit lamp photography is warranted to monitor patients with HBID and assess for progression of plaque size or corneal neovascularization.


Using quantitative PCR, they also ruled out the heresitary 4q35 in the affected patients [9]. Follow this link to review classifications for Hereditary benign intraepithelial dyskeratosis in Orphanet. Hereditary benign intraepithelial dyskeratosis HBID is a rare autosomal dominant disorder characterized by elevated epibulbar and oral plaques and hyperemic conjunctival blood vessels.

J Am Acad Dermatol. No other immediate family members, including his 6 siblings, had a history of ocular, oral or auditory disorders. Get free access to newly published articles.

Basal cell adenoma Canalicular adenoma Ductal papilloma Monomorphic adenoma Myoepithelioma Oncocytoma Papillary cystadenoma lymphomatosum Pleomorphic adenoma Sebaceous adenoma Malignant: Examination of a conjuctival biopsy specimen revealed features consistent with HBID.

Hereditary benign intra-epithelial dyskeratosis. Our website uses cookies to enhance your experience.

New author database being installed, click here for details. 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. Of the six reported affected probands that do not have Native American ancestry, four demonstrated conjunctival and corneal changes that were diagnosed by an ophthalmologist as consistent with HBID, with the diagnosis confirmed by histopathologic examination of conjunctival and corneal biopsy specimens.

Hereditary benign intraepithelial dyskeratosis: Ocular manifestation of the disease is characterized by bilateral, conjunctival injection with whitish-gray, elevated, gelatinous corneal plaques located in the perilimbal area, most often nasally or temporally [1] [2] [14]. These conjunctival lesions, photographs of which appear in the reports, appear to have been misinterpreted by the dermatologists, oral surgeons and pathologists who reported these cases as ocular manifestations of HBID.

Clinical features include white plaques on the bulbar conjunctiva and oral mucosa that may present at birth and progress over time.