hereditary benign intraepithelial dyskeratosis

遺伝性良性上皮内異角化症

WordNet

1. not dangerous to health; not recurrent or progressive (especially of a tumor)
2. pleasant and beneficial in nature or influence; "a benign smile"; "the benign sky"; "the benign influence of pure air" (同)benignant
3. kindness of disposition or manner; "the benign ruler of millions"; "benign intentions"

PrepTutorEJDIC

1. (心・表情などが)親切な,優しい / (事情・環境・気候などが)好適な,好都合な / 悪性でない
2. 世襲の,親譲りの / 遺伝的な,遺伝性の

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/01/10 08:48:38」(JST)

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Hereditary benign intraepithelial dyskeratosis is a rare autosomal dominant disease of the conjunctiva and the oral mucosa caused by a duplication of chromosome 4q35. In the mouth it appears similar to white sponge nevus, with painless, diffuse, folded and spongy white plaques. In the eye it appears as gelatinous plaques on bulbar perilimbal conjunctiva.

References

UpToDate Contents

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• 2. 外陰部病変：形態に基づく鑑別診断 vulvar lesions differential diagnosis based on morphology
• 3. 外陰上皮内腫瘍 vulvar intraepithelial neoplasia
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English Journal

• Familial Case of White Sponge Nevus - Diagnosis and Therapeutical Challenges.

• Bumbăcea RS, Mihai MM, Orzan OA1, Popa LG, Tovaru ȘR, Giurcăneanu C.
• Acta dermatovenerologica Croatica : ADC.Acta Dermatovenerol Croat.2015 Sep;23(3):228-32.
• White sponge nevus (WSN) is a rare autosomal dominant disorder with variable penetrance (1). It was first described by Hyde in 1909 (2); in 1935 Cannon named it white sponge nevus (3). Several other names have been applied to this condition: Hyde-Cannon's disease, familial white folded dysplasia, co
• PMID 26476912

• Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity.

• Bui T1, Young JW, Frausto RF, Markello TC, Glasgow BJ, Aldave AJ.
• Ophthalmic genetics.Ophthalmic Genet.2015 Aug 21:1-5. [Epub ahead of print]
• BACKGROUND: Hereditary benign intraepithelial dyskeratosis (HBID) is a rare autosomal-dominant disorder of the conjunctiva and oral mucosa first described in and predominantly affecting descendents of Haliwa-Saponi Native Americans. We report a spontaneous case of histopathologically-confirmed HBID
• PMID 24555743

• Genodermatoses.

• Babu NA1, Rajesh E1, Krupaa J1, Gnananandar G1.
• Journal of pharmacy & bioallied sciences.J Pharm Bioallied Sci.2015 Apr;7(Suppl 1):S203-6. doi: 10.4103/0975-7406.155903.
• Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive inheritance. Genetic heterogeneity is very common, and molecular diagnosis requires a broad effort. Recurrent mutations in unrelated famili
• PMID 26015711

Related Links

• hereditary benign intraepithelial dyskeratosis - definition of ...

hereditary benign intraepithelial dyskeratosis (həred´iter´ē bənīn´ in´trəep´əthē´lēəl dis´kerətō´sis), n a hereditary disease seen in triracial isolates (whites, Native Americans, blacks). It involves the oral mucosa and may cause periodic ...

• Hereditary Benign Intraepithelial Dyskeratosis - EyeWiki

Hereditary Benign Intraepithelial Dyskeratosis (HBID) is a benign disease of the conjunctiva, cornea, and oral mucosa [1] [2]. HBID follows a Mendelian autosomal dominant inheritance pattern with high penetrance. Due to the classic ...

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★リンクテーブル★

リンク元	「フォン・サルマン-パトン-ウィットコップ症候群」「遺伝性良性上皮内異角化症」
関連記事	「hereditary」「benign」「dyskeratosis」

「フォン・サルマン-パトン-ウィットコップ症候群」

　　[★]

英

von Sallmann-Paton-Witkop syndrome

同

ウィットコップ-フォン・サルマン症候群、遺伝性良性上皮内異角化症 hereditary benign intraepithelial dyskeratosis

参考2より引用

Characteristic histologic changes of 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. In a triracial isolate in North Carolina, Witkop et al. (1960) found this disorder in at least 83 persons. The conjunctiva and oral mucous membranes are affected. The oral lesion, which grossly resembles leukoplakia, is not precancerous. The eye lesions resemble pterygia (see 178000). The only symptoms are produced by involvement of the cornea, resulting in impairment of vision. Histologically, characteristic findings are obtained in oral and eye scraping. Penetrance is about 97% and there is little effect on reproductive fitness. Yanoff (1968) 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 (1961). However, Gorlin (1971) stated that Yanoff's patients were in fact related to Witkop's. (Members of the triracial isolate are called Haliwa Indians because they live in Halifax and Warren Counties, North Carolina.) Shields et al. (1987) described an affected 37-year-old woman of Haliwa ancestry who was born in Philadelphia.

By linkage analysis, Allingham et al. (2001) localized the gene for benign intraepithelial dyskeratosis, which they abbreviated HBID, to 4q35 with a peak lod score of 8.97. Molecular analysis revealed that all individuals affected with HBID in the 2 large families studied had 3 alleles for 2 tightly linked markers, D4S1652 and D4S2390, which map to the telomeric region of 4q35. They suggested that a duplication was involved in the causation of the disorder.

参考

• 1. [原著論文]Hereditary benign intraepithelial dyskeratosis. II. Oral manifestations and hereditary transmission.

• WITKOP CJ Jr, SHANKLE CH, GRAHAM JB, MURRAY MR, RUCKNAGEL DL, BYERLY BH.
• Archives of pathology.Arch Pathol.1960 Dec;70:696-711.
• PMID 13786059

• 2. DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL - OMIM

http://www.ncbi.nlm.nih.gov/omim/127600

「遺伝性良性上皮内異角化症」

　　[★]

英

hereditary benign intraepithelial dyskeratosis

関

フォン・サルマン-パトン-ウィットコップ症候群

「hereditary」

　　[★]

• adj.

• 遺伝性の、遺伝の

関

heredity、heritable、inherit、inheritable、inheritable character、inheritance、inherited

　

「benign」

　　[★]

• adj.

• 良性の、穏和な

関

benignant、mild、mildly

　 　 　 　

「dyskeratosis」

　　[★]

• 異常角化、異常角化症