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1. 眼皮膚白皮症oculocutaneous albinism [show details]
… well documented in certain populations with albinism, likely related to cultural norms . Oculocutaneous albinism type 2 (OCA2) is the most common type of albinism worldwide, due to its high prevalence in …
2. 遺伝性皮膚疾患：概要the genodermatoses an overview [show details]
…detail separately. Ocular albinism is albinism in which the hypopigmentation is primarily limited to the eyes . It is less common than oculocutaneous albinism. Ocular albinism type 1 (OA1, MIM #300500) …
3. 皮膚扁平上皮癌：疫学、危険因子、分子学的発生機序cutaneous squamous cell carcinoma epidemiology risk factors and molecular pathogenesis [show details]
…with albinism, the point prevalence of nonmelanoma skin cancer was approximately 25 percent, with increasing risk of skin tumors with increased age . Without sun protection, persons with albinism have …
4. 小児における身体的診察：HEENTthe pediatric physical examination heent [show details]
…of Waardenburg syndrome are lateral displacement of medial canthi (dystopia canthorum), partial albinism, and deafness . Twisted, short, fragile hair can be associated with , a genetic disorder mediated … the fundi are visualized individually and simultaneously (Bruckner test).…
5. チェディアック・東症候群chediak higashi syndrome [show details]
…disorder characterized by recurrent bacterial infections including pyogenic infections, oculocutaneous albinism that is present to a variable extent, progressive neurologic abnormalities, mild coagulation defects …

Japanese Journal

白子眼底の網膜剥離

出田秀尚
眼科 28, 929-930, 1986
NAID 50002179080

びまん性間質性肺炎を伴ったＨｅｒｍａｎｓｋｙ‐Ｐｕｄｌａｋ症候群の１例

西村浩一,金地研二,大熊稔,山川良治,北市正則,泉孝英,長井苑子,茆原順一,松井祐佐公,門政男,木野稔也,大島駿作
日本内科学会雑誌 73(10), 1497-1505, 1984
… .小児の頃,白子症と診断され,小学生の頃,外斜視を指摘され,また羞明のため角膜入墨術を受けていた.鼻出血は1カ月に1回程度きたしていた.理学的所見では外斜視と水平性眼振,両側肺底部での吸気時crackleと白子眼底の所見が認められた.血液検査ではRA反応陽性, IgE高値がみられた.止血機構に関する検査では出血時間延長,凝固時間正常,血小板数正常で,血小板機能検査ではstorage pool病の所見であつた.胸部X線像では両側中 …
NAID 130000891542