Department of Dermatology, St George's Healthcare NHS Trust, London, UK.
Department of Cellular Pathology, St George's Healthcare NHS Trust, London, UK.
Clin Exp Dermatol. 2018 Apr;43(3):315-318. doi: 10.1111/ced.13369. Epub 2018 Jan 15.
Methylmalonic acidaemia (MMA) is an inborn error of amino acid metabolism that may be associated with cutaneous manifestations mimicking other diagnoses, including staphylococcal scalded skin syndrome (SSSS), psoriasis and acrodermatitis enteropathica. Whether this is due to the underlying metabolic disorder itself or occurs as a consequence of dietary restriction has yet to be elucidated. Skin biopsies typically show histological features shared by a number of other metabolic disorders and nutritional deficiency-associated diseases. Some presentations, especially SSSS-like eruptions, may be associated with acute metabolic decompensation. An underlying metabolic disorder, such as MMA, should be considered in a diagnosed adult or undiagnosed child presenting with skin eruptions that resemble those listed above, so that specialist management may be initiated early.
甲基丙二酸血症(MMA)是一种氨基酸代谢的先天性错误,可能与模仿其他诊断的皮肤表现有关,包括葡萄球菌性烫伤样皮肤综合征(SSSS)、银屑病和肠病性肢端皮炎。这是由于潜在的代谢紊乱本身引起的,还是由于饮食限制引起的,目前尚不清楚。皮肤活检通常显示出与许多其他代谢紊乱和营养缺乏相关疾病共享的组织学特征。一些表现,特别是 SSSS 样皮疹,可能与急性代谢失代偿有关。对于出现类似于上述皮疹的已确诊成人或未确诊儿童,应考虑存在潜在的代谢紊乱,如 MMA,以便尽早开始专科治疗。