Runne U, Chilf G N, Zentner J
Hautarzt. 1982 May;33(5):271-5.
A 42-year-old woman had multiple pilomatrixomas of the scalp and trunk. Generalized cutis marmorata and Raynaud's syndrome were also present. The skin consistency was noticeably abnormal, being soft and stretchable. Her facies was typically myopathic, there was muscular paresis and atrophy, her speech was slurred, and her intelligence low. A diagnosis of dystrophia myotonica was made, previously unrecognized in this patient. Dystrophia myotonica is a genetic condition involving several systems, including the skin, mainly in the form of pilomatrixomas and vasomotor changes. Dystrophia myotonica is therefore of interest to the dermatologist for other reasons than the well-known testicular atrophy.
一名42岁女性头皮和躯干有多发毛发上皮瘤。还存在全身性大理石样皮肤和雷诺综合征。皮肤质地明显异常，柔软且有弹性。她的面容具有典型的肌病特征，有肌肉轻瘫和萎缩，说话含糊不清，智力低下。诊断为强直性肌营养不良，此前该患者未被识别。强直性肌营养不良是一种涉及多个系统的遗传性疾病，包括皮肤，主要表现为毛发上皮瘤和血管舒缩改变。因此，除了众所周知的睾丸萎缩外，强直性肌营养不良在其他方面也引起皮肤科医生的关注。
