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1. 類脂質蛋白症lipoid proteinosis [show details]
… Lipoid proteinosis (LP; MIM #247100), also known as Urbach-Wiethe disease or hyalinosis cutis et mucosae, is a rare autosomal recessive genodermatosis characterized by persistent voice hoarseness in infancy … lymphangiogenesis may contribute to the pathogenesis of the mucocutaneous findings in LP .…
2. 慢性粘膜皮膚カンジダ症chronic mucocutaneous candidiasis [show details]
… Chronic mucocutaneous candidiasis (CMCC) is a heterogeneous group of syndromes with the common features of chronic noninvasive Candida infections of the skin, nails, and mucous membranes that are usually …
3. ポイツ・ジェガース症候群：臨床症状、診断、マネージメントpeutz jeghers syndrome clinical manifestations diagnosis and management [show details]
…with mucocutaneous pigmentation, which is associated with PJS. JPS is associated with germline mutations in SMAD4, BMPR1A, and ENG genes and not STK11 as seen in patients with PJS. Mucocutaneous pigmentation …
4. 新生児におけるカンジダ感染症の臨床症状および診断clinical manifestations and diagnosis of candida infection in neonates [show details]
…common manifestation of mucocutaneous candidiasis in the premature infant. In one review, 8 percent of very low birth weight infants (birth weight <1500 g) developed mucocutaneous candidiasis during their …
5. ベーチェット症候群の治療treatment of behcet syndrome [show details]
…clinical improvement was seen in 88 percent of patients with mucocutaneous disease. A randomized trial in which 40 patients with mucocutaneous disease and/or arthritis were assigned to etanercept (25 mg …

Japanese Journal

ECM1遺伝子変異を伴う皮膚粘膜ヒアリノーシス例

早水佳子,黒野祐一
耳鼻咽喉科臨床 104(8), 575-580, 2011-08-01
Hyalinosis cuits et mucosae is a rare autosomal recessive disorder characterized by a hoarse voice and skin and mucosal changes. Beaded papules along the eyelid margins and infiltration of the oral mu …
NAID 10029260387

皮膚粘膜ヒアリノーシスの1症例

水田啓介,鈴木智雄,宮田英雄,佐久間伸二,柳原誠
喉頭 4(1), 58-63, 1992
Otorhinolaryngologists in Japan appear to be unfamiliar with hyalinosis cutis et mucosae, because this disease has not been reported in the otorhinolaryngological literature of Japan. This paper prese …
NAID 130004709909

皮膚結合織の病変-11-皮膚粘膜ヒアリノ-シス-6,7-(皮膚病理の電顕)

橋本健
臨床皮膚科 33(11), p1028-1030, 1979-11
NAID 40003793074

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皮膚粘膜ヒアリノーシスの1症例 - J-STAGE Home

皮膚粘膜ヒアリノーシスの1症例. Otorhinolaryngologists in Japan appear to be unfamiliar with hyalinosis cutis et mucosae, because this disease has not been reported in the otorhinolaryngological literature of Japan. This paper presents a case of hyalinosis cutis et mucosae with laryngeal involvements. A 59-year-old man was referred ...

皮膚粘膜ヒアリノーシス (Urbach-Wiethe) - Atlas of Ophthalmology

Diagnosis: 皮膚粘膜ヒアリノーシス (Urbach-Wiethe) Comment to photo: 眼瞼縁のろう状の丘疹。粘膜と皮膚の丘疹を伴うリソソーム蓄積症。常染色体劣性。診断上の特徴。Author(s): Ruprecht, Klaus, Prof. Dr. med., Universitäts