HEREDITARY BENIGN INTRAEPITHELIAL DYSKERATOSIS PDF

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HEREDITARY BENIGN INTRAEPITHELIAL DYSKERATOSIS PDF

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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C ] – Thick soft white papules and plaques of variable size may be in any part of oral cavity [UMLS: The bulbar conjunctiva is involved, especially in the nasal and temporal perilimbal region. Dilated superficial vessels in association with the conjunctival plaques give the eye an overall red appearance, which accounts for the disease’s nickname of ‘red eye.

The oral lesions, which are 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. The ocular manifestations in this condition vary in severity from asymptomatic plaques on the bulbar conjunctiva to complete involvement of the cornea with severe vision loss.

Patients commonly complain of symptoms of irritation, such as erythema, itching, excessive lacrimation, and photophobia.

Periods of acute intensification of symptoms are common, especially in the spring. The lesions may become apparent in early infancy and may date from birth. The plaques persist throughout life and sometimes progress, but may wax and wane summary by Witkop et al. 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.

Of approximately individuals who were examined, 74 were affected and 4 were equivocal. Patients displayed bilateral gelatinous plaques of the perilimbal bulbar conjunctiva of variable severity that were present at birth or shortly thereafter and persisted throughout life. A few patients had a corneal membrane or vascularized corneal opacity. Biopsies of the involved perilimbal conjunctiva from 5 patients all showed dyskeratosis and acanthosis of the conjunctival epithelium.

The eye lesions were invariably associated with a comparable epithelial lesion of the oral mucosa. 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. The oral lesion, which grossly resembles leukoplakia, is not precancerous. The eye lesions resemble pterygia see The only symptoms are produced by involvement of the cornea, resulting in impairment of vision.

Hereditary benign intraepithelial dyskeratosis – Wikipedia

Histologically, characteristic findings are obtained in oral and eye scraping. Yanoff described the condition in mother and daughter. This was the only report of the condition in persons apparently unrelated to the North Carolinian triracial isolate, the ‘Haliwa Indians,’ studied by Witkop and Gorlin However, Gorlin stated that Yanoff’s patients were in fact related to Witkop’s.

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Sadeghi and Witkop used transmission dyskfratosis 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.

Ultrastructural findings revealed a striking change in cellular differentiation toward keratinization in some but not all epithelial cells. HBID is differentiated from other dyskeratotic conditions of the mucous membranes by the presence of numerous vesicular bodies in immature dyskeratotic cells; a marked heteditary in the production of tonofilaments in dyskeratotic cells, densely filling the entire cytoplasm; disappearance of cellular interdigitation and desmosomes vyskeratosis mature dyskeratotic cells; and prominent nuclear degeneration.

The corneal abnormalities had 2 distinct features: 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 dhskeratosis. Adjacent to the abnormal epithelium were portions of normal thickness and morphology.

A mild to moderate infiltrate of lymphocytes and plasma cells was usually present beneath the hyperplastic and dyskeratotic epithelium.

The proband was a year-old man, whose 3 sons and 1 daughter all exhibited similar symptoms in infancy; 2 of intraepithepial grandchildren were also affected. The ocular lesions involved significant conjunctival hyperemia and gelatinous plaques, similar to pingueculae, located on the nasal and temporal bulbar conjunctiva.

The oral manifestations consisted of soft and spongy white patches, round or linear, that were present on the corners and floor of the mouth, gingival mucosa, and ventral surface of the tongue.

Histologic examination of a fragment of gingival mucosa showed a dyskeratotic, thickened epithelium, with loss of cell-cell adhesion towards the upper layers. 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.

He also had asymptomatic reddened gelatinous plaques and dilated vessels on the conjunctiva of both eyes. Intraoral incisional biopsy revealed increased epithelial thickness, hyperplasia, and acanthosis, with numerous large vacuolated cells throughout the epithelium.

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. The patient’s brother had eye changes consistent with HBID, but had no oral lesions.

Hereditary Benign Intraepithelial Dyskeratosis – EyeWiki

Their mother and a sister were unaffected; their father was deceased. No ocular or associated skin or nail lesions were observed. A mucosal biopsy showed thickening of the epithelium, prominent dyskeratosis with decreased cell-cell adhesion in the superficial layers, and a cell-within-cell pattern of epithelial cells engulfed by other normal cells.

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Tzanck smear of the affected mucosa revealed epithelial cells with cytoplasm discolored in a yellow-orange-brown tobacco-like hue so-called ‘tobacco cells’. Examination of her mother revealed dilated vessels and a superficial gelatinous plaque on the bulbar conjunctiva; a maternal uncle and the maternal grandmother also had dilated vessels and superficial gelatinous plaque on the bulbar conjunctiva, as well as white papules on the buccal mucosa.

All affected family members were asymptomatic.

Definition

By linkage analysis in 2 North Carolina families, one of which was originally described by Witkop et al. Molecular analysis revealed that intraepithwlial affected individuals in the 2 large families studied had 3 alleles for 2 tightly linked markers, D4S and D4S, which map to the telomeric region of 4q They suggested that a duplication is involved in the causation dyskertaosis the disorder.

A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis. Hereditary benign intraepithelial dyskeratosis: Discheratosi intraepiteliale benigna ereditaria: Corneal manifestations of hereditary benign intraepithelial dyskeratosis.

Hereditary Benign Intraepithelial Dyskeratosis

Ultrastructural study of hereditary benign intraepithelial dyskeratosis. Hereditary herwditary intraepithelial dyskeratosis. Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.

Hereditary dyskeratosis of the perilimbal conjunctiva. Four hereditary mucosal syndromes. Hereditary benign intra-epithelial dyskeratosis. Oral manifestations and hereditary transmission. Hereditary benign intraepithelial dyskeratosis HBID is a rare inherited disease characterized by elevated plaques on the ocular and oral mucous membranes.

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