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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Hypotrichosis–lymphedema–telangiectasia syndrome ： ウィキペディア英語版 Hypotrichosis–lymphedema–telangiectasia syndrome Hypotrichosis–lymphedema–telangiectasia syndrome is a congenital syndrome characterized by lymphedema (swelling of tissue due to malformation or malfunction of lymphatics), the presence of telegiectasias (small dilated vessels near the surface of the skin), and hypotrichosis or alopecia (hair loss). Lymphedema usually develops in the lower extremities during puberty. Hair is normal at birth, but usually lost during infancy. Telangiectasias may present on the palms and soles more commonly than on the scalp, legs, and genitalia.〔Burkhart CN, Adigun C, Burton CS. Chapter 174. Cutaneous Changes in Peripheral Venous and Lymphatic Insufficiency. In: Wolff K, ed. Fitzpatrick's Dermatology in General Medicine. 8th ed. New York: McGraw-Hill; 2012. http://www.accessmedicine.com/content.aspx?aID=56081150. Accessed November 3, 2013.〕The syndrome has been reported in association with both autosomal dominant and autosomal recessive inheritance patterns.〔http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=766〕 It is associated with a rare mutation of the transcription factor gene ''SOX18''. == See also == * HOPP syndrome * List of cutaneous conditions 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Hypotrichosis–lymphedema–telangiectasia syndrome」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.