Villa Chet R, Ryan Thomas D, Collins James J, Taylor Michael D, Lucky Anne W, Jefferies John L
Cincinnati Children's Hospital Medical Center Heart Institute, Cincinnati, OH, USA.
Cincinnati Children's Hospital Medical Center Heart Institute, Cincinnati, OH, USA.
Neuromuscul Disord. 2015 Feb;25(2):165-8. doi: 10.1016/j.nmd.2014.09.011. Epub 2014 Oct 2.
Plectin mutations have been reported in epidermolysis bullosa simplex with muscular dystrophy. We report the first case of left ventricular non-compaction in an 18-year-old male with epidermolysis bullosa simplex with muscular dystrophy. The patient was diagnosed with epidermolysis bullosa simplex after blistering was noted at birth. Motor function difficulties were first recognized at age 11, however the patient was lost to follow up. He was re-evaluated at age 17 and demonstrated significant ptosis, ophthalmoparesis, and pharyngeal muscle weakness. He had predominant proximal muscle weakness with the inability to raise arms against gravity. He was ambulatory for short distances but lost the ability to rise from the floor at 14 years. He was subsequently diagnosed with epidermyolysis bullosa simplex with muscular dystrophy and a PLEC1 mutation. Screening cardiovascular imaging revealed a diagnosis of isolated left ventricular non-compaction. This case highlights the potential for delayed onset muscular dystrophy in patients with epidermolysis bullosa simplex. Furthermore, this case also underscores the importance of long term, routine cardiac evaluation, including imaging and electrophysiologic evaluation, in patients with epidermolysis bullosa simplex with muscular dystrophy as the cardiac phenotype appears to parallel the variable severity and age of onset that characterize the neuromuscular phenotype.
在单纯性大疱性表皮松解症合并肌营养不良症中已报道有网蛋白突变。我们报告了首例18岁男性单纯性大疱性表皮松解症合并肌营养不良症患者出现左心室心肌致密化不全的病例。该患者出生时发现水疱后被诊断为单纯性大疱性表皮松解症。运动功能障碍于11岁时首次被发现，但患者失访。17岁时对其进行重新评估，发现有明显上睑下垂、眼球运动障碍及咽部肌肉无力。他以近端肌肉无力为主，无法抗重力抬臂。他能短距离行走，但14岁时丧失了从地面起身的能力。随后他被诊断为单纯性大疱性表皮松解症合并肌营养不良症及PLEC1突变。心血管影像学筛查显示诊断为孤立性左心室心肌致密化不全。该病例凸显了单纯性大疱性表皮松解症患者发生迟发性肌营养不良症的可能性。此外，该病例还强调了对单纯性大疱性表皮松解症合并肌营养不良症患者进行长期常规心脏评估（包括影像学和电生理评估）的重要性，因为心脏表型似乎与神经肌肉表型的严重程度和发病年龄的变化情况相似。
