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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Oral manifestations and hereditary transmission.

The location and names of genes in the duplicated regions are shown. Hereditary benign intraepithelial dyskeratosis, NLRP1segment duplication. Affected patients may have ocular involvement, oral involvement, or both. The corneal epithelium was slightly abnormal in some cases and almost totally involved in other instances, covering the visual axis of 1 eye in 4 patients. Examination by light microscopy of surgically excised tissue from 5 of the patients showed similar features in all specimens, with markedly thickened mucosal epithelium that exhibited hyperkeratosis and acanthosis.

Patients with HBID have reported a stigma of eye redness which is commonly confused for drug or alcohol abuse [3].

Hereditary benign intraepithelial dyskeratosis – Wikipedia

Teeth pulpdentinenamel. The corneal abnormalities had 2 distinct features: Yanoff described the condition in mother and daughter.

Orofacial soft tissues — Soft tissues around the mouth Actinomycosis Angioedema Basal cell carcinoma Cutaneous sinus heredigary dental origin Cystic hygroma Gnathophyma Ludwig’s angina Macrostomia Melkersson—Rosenthal syndrome Microstomia Noma Oral Crohn’s disease Orofacial granulomatosis Perioral dermatitis Pyostomatitis vegetans.


The oral involvement was also more severe and extended to the larynx. Sequencing of NLRP1 in the proband revealed only a single synonymous coding variant c. A bonus to all Intraepityelial users is the option to sign up for updates on new gene-phenotype relationships.

Hereditary benign intraepithelial dyskeratosis: an evaluation of diagnostic cytology.

Few reports have suggested that plaques spontaneously shed, however there has never been photographic documentation of this phenomenon. The plaques persist throughout life and sometimes progress, but may wax and wane summary by Witkop et al. Other Eagle syndrome Hemifacial hypertrophy Facial hemiatrophy Oral manifestations of systemic disease.

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Medical management with ATs, topical corticosteroids, and systemic immunosuppression only minimally improves the symptoms. Periods of acute intensification of symptoms are common, especially in the dydkeratosis.

Hereditary Benign Intraepithelial Dyskeratosis | JAMA Ophthalmology | JAMA Network

Clinicopathological features of a suspected case of hereditary benign intraepithelial dyskeratosis with bilateral corneas involved: The clinical picture shows considerable diversity, but the histopathology has characteristics common to both lesions and thus supports the clinical impression of a single disease process. Sign in to download free article PDFs Sign in to access your subscriptions Sign in to your personal account. They hreditary that a duplication is involved in the causation of the disorder.

Arch Pathol Lab Med. Hereditary benign intraepithelial dyskeratosis is a rare [1] autosomal dominant disease of the conjunctiva and the oral mucosa caused by a duplication of chromosome 4q Our website uses cookies to enhance your experience.

Create a personal account to register for email alerts with links to free full-text articles. Copy number variant analysis Copy number variation analysis in the proband revealed seven regions of CNV across the genome, none of which involved chromosome 17 but 3 of which involved chromosome 4: Some cells in the upper-middle region of the Malpighian layer exhibited marked eosinophilia and early keratinization with a waxy appearance, and some of those cells also displayed a cell-within-cell appearance.


Gray-white, inflamed, horseshoe shaped elevated lesions of conjunctiva and oral mucosa; bilateral corneal involvement Cornea ; Numerous vesicular bodies in immature dyskeratotic cells Densely packed tonofilaments fill mature dyskeratotic cells which lack cellular interdigitations and desmosomes Oral Surg Oral Med Oral Pathol ; Acanthosis and underlying chronic lymphocytic infiltrate in HBID [3].

Patients tend to have exacerbations of symptoms in the spring and summer months but alleviation in cooler weather [1] [12].

The presence of Candida albicans in hereditary benign intraepithelial dyskeratosis. Individual epithelial cells show margination and fragmentation of nuclear material with eosinophilic cytoplasm and apoptotic changes hematoxylin and eosin stain. 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.