Department of Dermatology, University Hospital Heidelberg, Heidelberg, Germany.
Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
Eur J Neurol. 2021 May;28(5):1784-1793. doi: 10.1111/ene.14754. Epub 2021 Mar 1.
Moyamoya angiopathy (MA) is a progressive cerebrovascular disease with a poorly understood pathophysiology. It is mainly characterized by progressive bilateral stenosis of the terminal intracranial part of the supraclinoid internal carotid arteries and the proximal parts of the middle and anterior cerebral arteries. This results in early-onset ischemic or hemorrhagic strokes. The disease may be idiopathic (known as Moyamoya disease) or associated with other heritable or acquired conditions, including type 1 neurofibromatosis or other RASopathies, sickle cell disease, Down syndrome, or autoimmune disorders (known as Moyamoya syndrome). Apart from the brain, other organ manifestations including cutaneous ones have also been described in MA patients.
A literature research on PubMed was performed for articles mentioning the cutaneous association in MA and published between 1994 and October 2020.
The present review summarizes the cutaneous associations as well as the coincidental dermatological findings seen in MA patients. Those include changes in the epidermis, dermis, or skin appendages for example café-au-lait spots, hypomelanosis of Ito, livedo racemosa, hemangiomas, premature graying of hair, chilblains etc.
烟雾病（MA）是一种病因未明的脑血管疾病，其病理生理学尚不清楚。它主要表现为颈内动脉虹吸段及大脑前、中动脉起始部严重狭窄或闭塞，颅底异常血管网形成，由此导致早期发生缺血性或出血性脑卒中。该疾病可能为特发性（称为烟雾病）或与其他遗传性或获得性疾病相关，包括 1 型神经纤维瘤病或其他 RAS 病、镰状细胞病、唐氏综合征或自身免疫性疾病（称为烟雾综合征）。除了大脑，MA 患者还可能有其他器官表现，包括皮肤表现。
在 PubMed 上进行了关于 1994 年至 2020 年 10 月期间发表的提到 MA 皮肤相关性的文章的文献检索。
本综述总结了 MA 患者的皮肤相关性和偶然发现的皮肤病学表现，包括表皮、真皮或皮肤附属器的改变，如咖啡牛奶斑、伊藤色素减退、网状青斑、血管瘤、早发性白发、冻疮等。
