Abstract：
RASopathies are rare genetic disorders caused by germline pathogenic variants in genes belonging to the RAS/MAPK pathway, which signals cell proliferation, differentiation, survival and death. The dysfunction of such signaling pathway causes syndromes with overlapping clinical manifestations. Skin and adnexal lesions are the cardinal clinical signs of RASopathies, such as cardiofaciocutaneous syndrome, Noonan syndrome with multiple lentigines, formerly known as LEOPARD syndrome, Costello syndrome, neurofibromatosis (NF1), Legius syndrome, Noonan-like syndrome with loose anagen hair (NSLH) and Noonan syndrome. As NF1, one of the most common RASopathies, described in 1882, has its clinical features well delineated, we will focus on the dermatological diagnosis, management and care of non-NF1 RASopathies, which are less known and more recently described. Dermatological manifestations are important clinical diagnostic elements that can aid differential diagnosis among RASopathies. They can affect dermis and epidermis, causing pigmented lesions (melanocytic nevi, café-au-lait spots, and lentigines), hyperkeratosis (keratosis pilaris, ulerythema ophryogenes, and palmoplantar keratosis) or hyperplasia. To date there are rare known links to malignancy, but oftentimes skin lesions require close attention because they can highly affect quality of life.
摘要：
放射病是由属于RAS/MAPK通路的基因中的种系致病变异引起的罕见遗传疾病，它发出细胞增殖信号，分化,生存和死亡。这种信号通路的功能障碍导致具有重叠临床表现的综合征。皮肤和附件病变是放射病的主要临床体征，比如心脏皮肤综合征，努南综合征伴多个腹水,以前被称为LEOPARD综合征，科斯特洛综合征,神经纤维瘤病（NF1），Legius综合征,Noonan样综合征伴毛发疏松（NSLH）和Noonan综合征。作为NF1，最常见的放射病之一，1882年描述，其临床特征很好地描述，我们将专注于皮肤病学诊断，非NF1神经病的管理和护理，这是鲜为人知和最近描述。皮肤病学表现是重要的临床诊断要素，可以帮助在放射病之间进行鉴别诊断。它们可以影响真皮和表皮，导致色素性病变（黑素细胞痣，咖啡厅-au-lait斑点，和lentigines)，角化过度（毛发角化病，光敏性红斑，和掌plant角化病）或增生。迄今为止，与恶性肿瘤有罕见的已知联系，但皮肤损伤往往需要密切关注，因为它们会严重影响生活质量。
