Presentation
Entire Body System
Gastrointestinal
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Polydipsia
苔癬様皮膚症】【苔癬様皮膚病】*lichenoid dermatosis (退)* 【退行形成】【退形成】*retroplasia *anaplasia 【退縮眼振】*retractory nystagmus *nystagmus of retraction (太) 【太鼓バチ状指】【太鼓バチ指】*clubbed finger バチ状指、バチ指 (代) 【代謝疾患】*metabolic disease (体) 【体静脈狭窄】*systemic vein stenosis (多) 【多飲多食症】*polydipsia [medo.jp]
Jaw & Teeth
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Macroglossia
[…] salivary stone *sialolith 【唾石症】*sialolithiasis (大) 【大顎症】*macrognathia 【大虚脱】*massive collapse 【大孔ヘルニア】*foraminal hernia 【大細胞癌】*large cell carcinoma 【大指症】*macrodactyly/*megalodactylia/*megalodactylism *dactylomegaly *chiromegaly ( 巨指症) 【大食症】*polyphagia 【大舌症】*macroglossia [medo.jp]
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Cheilitis
[…] uvula *uvula bifida[L] 【口蓋乳頭嚢胞】*cyst of papilla palatina 【口蓋裂】*cleft palate *palatoschisis 【口腔乾燥症】*xerostomia 【口腔真菌症】*oral mycosis *stomatomycosis 【口腔病巣性粘液沈着症】*oral focal mucinosis 【口臭】*bad breath *foul breath *halitosis *ozostomia *fetor oris[L] 【口唇炎】*cheilitis [medo.jp]
Eyes
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Blepharitis
】*hemophthalmia 【眼球突出】*exophthalmia/*exophthalmos/*exophthalmus *protopsis 【眼球粗動】*ocular flutter 【眼球軟化症】*ophthalmomalacia 【眼球ミオクローヌス】*ocular myoclonus 【眼筋麻痺】*ocular paralysis *ophthalmoplegia 外眼筋麻痺 【眼瞼アテローム】【眼瞼粉瘤】*blepharoatheroma 【眼瞼炎】*palpebritis *blepharitis [medo.jp]
Neurologic
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Quadriplegia
[…] melagra ( 四肢筋痛) 【肢端紅痛症】*erythermalgia 【肢端肥大症】*acromegaly/*acromegalia ( 先端肥大症) 【肢痛】*melalgia (刺) 【刺激性線維腫】*irritation fibroma (死) 【死産】*stillbirth *dead birth (四) 【四肢奇形】*peromelia/*peromely 〈peromelismはない〉 【四肢強直症】*acromyotonia 【四肢筋痛】*melagra ( 肢筋痛) 【四肢麻痺】*quadriplegia [medo.jp]
Workup
Serum
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Thrombocytosis
【血管平滑筋肉腫】*angioleiomyosarcoma 【血管閉塞】*vascular obstruction 【血管破裂】*angiorrhexis 【血汗症】*hematohidrosis 【血球減少症】*hypocytosis 【血胸症】*hemothorax 【血行性膿瘍】*hematogenous abscess 【血色素症】*hemochromatosis 【血腫】*hematoma 【血小板鬱滞症】*thrombostasis 【血小板血症】*thrombocythemia *thrombocytosis [medo.jp]
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Erythrocytosis
[…] asbestosis (赤) 【赤芽球症】*erythroblastosis 【赤色異感覚症候群】*erythrodysesthesia syndrome 【赤色歯】*erythrodontia ( 紅変歯) 【赤色舌炎】*magenta tongue 【赤白血病】*erythroleukemia 【赤痢】*dysentery 【赤血球減少症】*erythrocytopenia/*erythropenia 【赤血球産生異常】*erythropoietic abnormality 【赤血球増加症】*erythrocytosis [medo.jp]
Treatment
Treatments for bladder cancer include surgery, radiation therapy, chemotherapy, and biologic therapy. Biologic therapy boosts your body's own ability to fight cancer. [mendelian.co]
Etiology
Etiology Hypertrophy and dysmotility of the esophageal smooth muscles is suggested to have causative role for dysphagia. Genetic counseling In several cases, autosomal dominant inheritance has been suspected. [rarediseases.info.nih.gov]
Gupta A, Hollander D: Duplication of the pylorus found concomitantly with achalasia: congenital or peptic etiology. Dig Dis 22 :829–830, 1977 Google Scholar 8. Rozycki DL, Ruben RJ, Rapins I, Spiro AJ: Autosomal recessive deafness. [link.springer.com]
Epidemiology
Epidemiology Less than ten cases have been reported so far. Clinical description Three of the reported patients manifested multiple odontomas. [rarediseases.info.nih.gov]