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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Special thanks to Cummings TJ et al and the College of American Pathologists for permission to use figures from the journal article “Hereditary Benign Intraepithelial Dyskeratosis, an evaluation of diagnostic cytology”.

Heredtary incisional biopsy revealed increased epithelial thickness, hyperplasia, and acanthosis, with numerous large vacuolated cells throughout the epithelium. Hereditary benign intraepithelial dyskeratosis HBID is a rare inherited disease characterized by elevated plaques on the ocular and oral mucous membranes. Get free access to newly published articles. Copy number variant CNV analysis revealed a de novo 4q35 duplication that overlapped the duplication previously associated with HBID, although no genes were identified in the common interval.

Hereditary benign intraepithelial dyskeratosis (Concept Id: C)

A report of two cases from Texas. Their mother and a sister were unaffected; their father was deceased. Lena Dixit, MD All contributors: Hereditary benign intraepithelial dyskeratosis.

Show all Hide all. The ocular lesions involved significant conjunctival hyperemia and gelatinous plaques, similar to pingueculae, located on the nasal and temporal bulbar conjunctiva. The publisher’s final edited version of this article is available at Ophthalmic Genet. Ocular ultrasonography revealed a normal axial length and unremarkable posterior segment of each eye.

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. Cells with homogenously dense orange cytoplasm and sometimes pyknotic nuclei.

The patient also had a history of congenital bilateral sensorineural hearing loss, for which he began wearing hearing aids at 1 year of age. Open in a separate window.


Salivary glands Benign lymphoepithelial lesion Ectopic salivary gland tissue Frey’s syndrome HIV salivary gland disease Necrotizing sialometaplasia Mucocele Ranula Pneumoparotitis Salivary duct stricture Salivary gland aplasia Salivary gland atresia Salivary gland diverticulum Salivary gland fistula Salivary gland hyperplasia Salivary gland hypoplasia Salivary gland neoplasms Benign: 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.

Hereditary benign intraepithelial dyskeratosis HBID is a disorder of the bulbar conjunctiva and oral mucosa associated with epithelial hyperplasia and hyperkeratosis.

Palmoplantar hyperkeratosis was also reported. Epub Jan 16 doi: In cases in which the conjunctival epithelial abnormalities extend onto the cornea, vision may be affected and intrraepithelial transplantation may be required. Adenosquamous carcinoma Basaloid squamous carcinoma Mucosal intraepiithelial 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.

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Hereditary benign intraepithelial dyskeratosis

Create a free personal account to download free article PDFs, sign up for alerts, customize your interests, and more. The presence of Candida albicans in hereditary benign intraepithelial dyskeratosis. The Academy uses cookies to analyze performance and provide relevant personalized content to users of our website. Hereditary Benign Intraepithelial Dyskeratosis: Ser38Sera known SNP rspresent in the heterozygous state.

Create a free personal account to make a intreapithelial, download free article PDFs, sign up for alerts and more. 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 intraepihelial of coverage.

External photographs of 6-year old boy with clinical and histopathologic changes consistent with HBID. Palate Bednar’s aphthae Cleft palate High-arched palate Palatal cysts of the newborn Inflammatory papillary hyperplasia Stomatitis nicotina Torus palatinus. They observed that cells in affected Bejign patients had a shift in differentiation toward keratinization. Hereditary benign intra-epithelial dyskeratosis. Orofacial soft tissues — Soft tissues around the mouth. 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.



Corneal manifestations of hereditary benign intraepithelial dyskeratosis. The FAT gene is a tumor suppressor gene that may promote abnormal epithelial cell proliferation when not functioning properly [8]. Support Center Support Center. Periods of acute intensification of intraepitheliwl are common, especially in the spring.

Hereditary benign intraepithelial dyskeratosis, NLRP1segment duplication.

Hereditary Benign Intraepithelial Dyskeratosis

Patients with HBID have reported a stigma of eye redness which is commonly confused for drug or alcohol abuse [3]. This website is intended for pathologists and laboratory personnel, who understand that medical information is imperfect and must be interpreted using reasonable medical judgment.

The oral involvement was also more severe and extended to the larynx. Hereditary benign intraepithelial dyskeratosis is a rare [1] autosomal dominant disease of the conjunctiva and the oral mucosa caused intarepithelial a duplication of chromosome 4q Four hereditary mucosal syndromes: There is no sex predominance and as far as is known the disease is inherited as a simple Mendelian dominant.

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 dyskeratoeis dystrophy. Original article contributed by: