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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Pathology Outlines – Conjunctiva: hereditary benign intraepithelial dyskeratosis

However, the authors proposed that a candidate gene in this region of duplication could be the human homolog of the FAT gene found in the Drosophilla fly. Sign up for our Email Newsletters. However, the etiology of these cellular changes has not been explicated. Privacy policy About EyeWiki Disclaimers. Oral mucosa — Lining of mouth. Characteristic histologic changes in the prickle cell layer of the mucosa include numerous round, waxy-looking, eosinophilic cells that appear to be engulfed by normal cells, giving a cell-within-cell appearance; these changes are seen in both oral and eye specimens.

Sadeghi and Witkop used transmission electron microscopy to examine biopsy specimens from the molar region of the buccal mucosa of a year-old boy and a year-old woman with hereditary benign intraepithelial dyskeratosis.

A Comprehensive Atlas and Text. Ocular and intrawpithelial plaques are distinctively characterized by acanthosis, dyskeratosis, and parakeratosis within the stratified squamous epithelium. Basal cell adenoma Canalicular adenoma Ductal papilloma Monomorphic adenoma Myoepithelioma Oncocytoma Papillary cystadenoma lymphomatosum Pleomorphic adenoma Sebaceous adenoma Malignant: We need long-term secure funding to provide you the information that you need at your fingertips.

In addition to clinical diagnosis, HBID can also be diagnosed histopathologically. Materials and Methods Report of a case with histopathologic examination of an excised conjunctival specimen as well as molecular and cytogenetic analysis.

The oral lesions, which dyskrratosis typically asymptomatic and may go unrecognized, usually appear as thick, soft, white papules and plaques of various sizes, involving any part of the oral cavity. External photographs of 6-year old boy with clinical and histopathologic changes consistent with HBID. Dyskeratotic cells were observed in the suprabasal and superficial epithelium, with some cells appearing to be engulfed by the surrounding cells in a cell-within-cell pattern, findings that were compatible with HBID.


Cytologic preparations from conjunctival brushings in patients afflicted with HBID and from unaffected blood relatives with normal conjunctivas were compared in a masked fashion. Epub Feb 20 doi: The authors report no conflicts of interest. Other Eagle syndrome Hemifacial hypertrophy Facial hemiatrophy Oral manifestations of systemic disease. Nasopalatine duct Median mandibular Median palatal Traumatic bone Osteoma Osteomyelitis Osteonecrosis Bisphosphonate-associated Neuralgia-inducing cavitational osteonecrosis Osteoradionecrosis Osteoporotic bone marrow defect Paget’s disease of bone Periapical abscess Phoenix abscess Periapical periodontitis Stafne defect Torus mandibularis.

The nutritional status of this patient population was closely analyzed in order to rule out vitamin A deficiency as a cause for mucus membrane lesions.

Bilateral, marked, red eyes is the most common symptom due to bulbar conjunctival hyperemia.

Hereditary benign intraepithelial dyskeratosis – Wikipedia

Adjacent to the abnormal epithelium were portions of normal thickness and morphology. HBID is an entity with distinct clinical, histopathologic, and genetic features. Bilateral Limbal Keratin-Associated Amyloidosis. Page views in to date: Diffuse conjunctival injection, an elevated lesion overlying the limbus and diffuse superficial corneal vascularization and opacification are noted OD B.

We are determined to keep this website freely accessible. Discheratosi intraepiteliale benigna ereditaria: Tzanck smear of the affected mucosa intraepitheliall epithelial cells with cytoplasm discolored in a yellow-orange-brown tobacco-like hue so-called ‘tobacco cells’.

Von Sallmann and Patonstudied members of a large, triracial, consanguineous North Carolinian isolate population, so-called ‘Halowar Indians,’ who had dyskeratosis of the conjunctival epithelium. Significant inferior conjunctival injection, and corneal vascularization and opacification of the previous penetrating keratoplasty are noted OS C. Clinicopathological features of a suspected case of hereditary benign intraepithelial dyskeratosis with herexitary corneas involved: This website is intended for pathologists and laboratory beign, who understand that medical information is imperfect and must be interpreted using reasonable medical judgment.

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Hereditary benign intraepithelial dyskeratosis

Ultrastructural findings revealed a striking change in cellular differentiation toward keratinization in some but not all epithelial cells. Shields, MD ; Ralph C. The presence of Candida albicans in hereditary benign intraepithelial dyskeratosis. Together, they examined over patients in the Haliwa geneology, 74 of which had clinical signs and symptoms of the ocular surface or oral mucosa [1] [2].

A few patients had intrzepithelial corneal membrane or vascularized corneal opacity.

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.

Cytologic observations were correlated with molecular genetic analyses. Hereditary benign intraepithelial dyskeratosis, NLRP1segment duplication. Sign in to make a comment Sign in to your personal account. Whole exome sequencing No open reading frames or identified genes were found in the Kb duplicated region of 4q.

The patient’s brother had eye changes consistent with HBID, but had no oral lesions. Purchase access Subscribe to JN Learning for one year. Additionally, an exonic sequence variant that resulted in a change in the encoded protein sequence was not identified in the NLRP1 coding region when aligned to hg18 all exonic seqments had adequate depth of coverage.

No open reading frames or identified genes were found in the Kb duplicated region of 4q. This study included one Haliwa-Saponi family and another family from North Carolina [3]. He also had asymptomatic reddened gelatinous plaques and dilated vessels on the conjunctiva of both eyes. A biopsy of the elevated limbal lesion in the right eye revealed marked thickening of the epithelium associated with dyskeratosis, hyperkeratosis and apparent apoptosis Figure 2.