- 関
- フォン・サルマン-パトン-ウィットコップ症候群
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- 1. 特発性器質化肺炎 cryptogenic organizing pneumonia
- 2. シェーグレン症候群の臨床症状：腺外型疾患 clinical manifestations of sjogrens syndrome extraglandular disease
- 3. 急性呼吸窮迫症候群：成人における臨床的特徴および診断 acute respiratory distress syndrome clinical features and diagnosis in adults
- 4. 同種造血細胞移植後の肺合併症 pulmonary complications after allogeneic hematopoietic cell transplantation
- 5. 原発性免疫不全症の肺合併症 pulmonary complications of primary immunodeficiencies
Related Links
- 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 ... 乳酸リンゲル液, 83. 17, デルマトーム, 82. 18, 猫鳴き症候群, 73. 19, Mini-Mental State Exam, 71. 20, ハンセン病, 70 ...
★リンクテーブル★
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- 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.
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- 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
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- 英
- syndrome, symptom-complex
- 同
- 症状群
- 関
- [[]]
- 成因や病理学的所見からではなく、複数の症候の組み合わせによって診断される診断名あるいは疾患。
内分泌
先天的代謝異常
高プロラクチン血症
- 分娩後の視床下部障害によるプロラクチン分泌抑制因子の分泌抑制のため、高プロラクチン血症を呈する。
- 分娩に関係なくプロラクチン分泌抑制因子の分泌抑制をきたし、高プロラクチン血症を呈する。
性腺機能低下
- 嗅覚の低下・脱出、低ゴナドトロピン性性腺機能低下症
- 肥満、網膜色素変性症、知能低下、低ゴナドトロピン性性器発育不全、多指症、低身長
性早熟
- 思春期早発症、多発性線維性骨異形成症、皮膚色素沈着
- 女性型の肥満、性器の発育障害の2主徴を示し、視床下部に器質的障害をもつ疾患群。
脳神経外科・神経内科
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- 英
- group
- 関
- グループ、集団、分類、群れ、基、グループ化
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- 英
- monkey、simian
- 関
- 類人猿、真猿亜目、直鼻猿亜目
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水酸化マグネシウム、水酸化アルミニウム
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- 英
- symptom and sign
- 関
- 症状, 徴候 兆候