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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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The investigators performed whole genome sequencing on this 7-member family using negative controls from random post-PRK samples. The oral involvement was also more severe and extended to the larynx.

Oral manifestations and hereditary transmission. Hyperplastic squamous epithelium with multilayered parakeratotic intraepitbelial of pyknotic nuclei within eosinophilic ghosts of epithelial cells. Hereditary benign intraepithelial dyskeratosis [3].

A variety of surgical options have been explored, although most are complicated by exuberant recurrence after plaque excision. Basal cell adenoma Canalicular adenoma Ductal papilloma Monomorphic adenoma Myoepithelioma Oncocytoma Papillary cystadenoma lymphomatosum Pleomorphic adenoma Sebaceous adenoma Malignant: All affected family members were asymptomatic.

There is no sex predominance hereditart as far as is known the disease is inherited as a simple Mendelian dominant. Diagnosis can be made by slit lamp biomicroscopy alone.

Hereditary Benign Intraepithelial Dyskeratosis

Other Eagle syndrome Hemifacial hypertrophy Facial hemiatrophy Oral manifestations of systemic disease. 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.


Periapical, mandibular and maxillary hard intraspithelial — Bones of jaws Agnathia Alveolar osteitis Buccal exostosis Cherubism Idiopathic osteosclerosis Mandibular fracture Microgenia Micrognathia Intraosseous cysts Odontogenic: Looking For More References? Periodontium gingivaperiodontal ligamentcementumalveolus — Gums and tooth-supporting structures Cementicle Cementoblastoma Gigantiform Cementoma Eruption cyst Epulis Pyogenic granuloma Congenital epulis Gingival enlargement Gingival cyst of the adult Gingival cyst of the newborn Gingivitis Desquamative Granulomatous Plasma cell Hereditary gingival fibromatosis Hypercementosis Hypocementosis Linear gingival dyskdratosis Necrotizing periodontal diseases Acute hereditart ulcerative gingivitis Pericoronitis Peri-implantitis Periodontal abscess Periodontal trauma Periodontitis Aggressive As a manifestation of systemic disease Chronic Perio-endo lesion Teething.

Yanoff described the condition in mother and daughter.

The hallmark dyskeratotic cells in hereditary benign intraepithelial dyskeratosis have a dense cytoplasm and pyknotic nuclei. J Oral Pathol Med.

Hereditary Benign Intraepithelial Dyskeratosis | JAMA Ophthalmology | JAMA Network

Sign in to access your subscriptions Sign in to your personal account. The eye lesions were invariably associated with a comparable epithelial lesion of the oral mucosa.

Patients commonly complain of symptoms of irritation, such as dyskratosis, itching, excessive lacrimation, and photophobia. Oral manifestations [2] [10] [11]: Patients commonly complain of symptoms of irritation, such as erythema, itching, excessive lacrimation, and photophobia.

Hereditary benign intraepithelial dyskeratosis: We report a spontaneous case of histopathologically-confirmed HBID affecting an individual not of Native American ancestry.

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 Report of a case with histopathologic examination of an excised conjunctival specimen as well as molecular and cytogenetic analysis.

Corneal manifestations of hereditary benign intraepithelial dyskeratosis. Eagle syndrome Hemifacial hypertrophy Facial hemiatrophy Oral manifestations of systemic disease.


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.


Create a free personal account to download free article PDFs, sign up for alerts, customize your interests, and more. Retrieved from ” https: Cytologic preparations from conjunctival brushings in patients afflicted with HBID and from unaffected blood relatives with normal conjunctivas were compared in a masked fashion.

Acanthotic and dyskeratotic epithelium of conjunctiva and oral mucosa Overlying multilayered parakeratotic mantle with pyknotic nuclei and epithelial ghosts, middle and superficial layers have large squamous cells and dyskeratotic cells but no atypia Subepithelial lymphoid infiltrate Arch Pathol Lab Med ; Footnotes Declaration of interest: This patient received a limbal allograft in one eye and did not have recurrence after 1. Hereditary benign intraepithelial dyskeratosis [title]. 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.

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. 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].