Kind R
Z Hautkr. 1976 Nov 1;51(21):927-32.
A 20-year old female patient with characteristic symptoms of acroosteolysis of the left foot (sensory neuropathy, ulcers and hyperkeratosis on the acra, acroosteolysis and peroneal muscleatrophy) is described. The syndrome manifested in early childhood, heridity could not be found. Correspondence to the familial type of acroosteolysis (of Thevenard) as a new mutation is discussed.
描述了一名20岁女性患者,其具有左脚肢端骨质溶解的典型症状(感觉神经病变、肢端溃疡和角化过度、肢端骨质溶解和腓骨肌萎缩)。该综合征在幼儿期出现,未发现遗传因素。讨论了与家族性肢端骨质溶解(特韦纳尔型)作为一种新突变的相关性。