Cutaneous manifestations in Moyamoya angiopathy: A review

Abstract

Background and purpose: 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. Materials and methods: A literature research on PubMed was performed for articles mentioning the cutaneous association in MA and published between 1994 and October 2020. Conclusion: 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.

How can same-gene mutations promote both cancer and developmental disorders?

“…Recently, there has been a rapid hike in the number of reports relating to the linkage between neurodevelopmental disorders and cancer. These include many excellent reviews on the various aspects of neurodevelopmental disorders, such as RASopathy including, e.g., neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS) [e.g., (6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)], PIK3CA-related overgrowth spectrum (PROS) [e.g., (24)(25)(26)], ASD [e.g., (27)(28)(29)(30)(31)(32)(33)], cerebral palsy, and more [e.g., (34)(35)(36)(37)], and one uniquely also covering genetically engineered mouse models to study cancer or congenital disorders (38). The linkage between developmental signaling cascades and aggressive central nervous system (CNS) tumors has also been reviewed [e.g., (37,39)].…”

Concurrent Presentation of Euryblepharon and Moyamoya Syndrome in Costello Syndrome: A Rare Clinical Case

“…Interestingly, there has been an emerging body of literature highlighting a potential association between RASopathies and moyamoya syndrome. Certain RASopathies, particularly neurofibromatosis type 1, have been frequently observed in individuals diagnosed with moyamoya syndrome [ 14 ].…”

Neurodevelopmental disorders, immunity, and cancer are connected

“…For further discussion and data see ( Shieh, 2019 ). The connection between neurodevelopmental disorders and cancer has also been reviewed for pathologies such as RASopathies, including NF1, Noonan syndrome (NS), Costello syndrome (CS), [e.g., ( Baltanas et al., 2020 , 2021 ; Bergqvist and Wolkenstein, 2021 ; Castel et al., 2020 ; Christou et al., 2022 ; Gripp et al., 2020 ; Gross et al., 2020 ; Inoue et al., 2021 ; Kessler et al., 2021 ; Klomp et al., 2021 ; Leclerc et al., 2021 ; Lee et al., 2021 ; Malaquias and Jorge, 2021 ; Mitri et al., 2021 ; Prior, 2021 ; Rauen et al., 2021 ; Riller and Rieux-Laucat, 2021 ; Van et al., 2020 ; Weber and Carroll, 2021 ),], PROS ( Madsen et al., 2018 ; Martinez-Lopez et al., 2017 ; Venot et al., 2018 ; Venot and Canaud, 2017 ), ASD ( Hanly et al., 2021 ; Liu et al., 2021 ; Spina Nagy et al., 2021 ; Tiwari et al., 2021 ; Valentine et al., 2020 ; Yehia et al., 2019 , 2020 ), cerebral palsy, and more ( Bartels et al., 2020 ; Curry and Glasgow, 2021 ; Fahey et al., 2017 ; Gabriele et al., 2018 ). All have been linked to the Ras small GTPases superfamily and their signaling components.…”