Dermatological manifestations, management, and care in RASopathies

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY
Maria Ines Kavamura, Chiara Leoni, Giovanni Neri
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引用次数: 2

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.

皮肤病的皮肤病学表现、管理和护理
ras病是由属于RAS/MAPK通路的基因的种系致病性变异引起的罕见遗传疾病,RAS/MAPK通路是细胞增殖、分化、生存和死亡的信号。这种信号通路的功能障碍导致临床表现重叠的证候。皮肤和附件病变是ras病变的主要临床体征,如心面部皮肤综合征、努南综合征合并多痣,以前称为LEOPARD综合征、Costello综合征、神经纤维瘤病(NF1)、Legius综合征、努南样综合征伴毛发疏松(NSLH)和努南综合征。由于NF1是1882年描述的最常见的rasopathy之一,其临床特征已被很好地描述,我们将重点关注非NF1 rasopathy的皮肤病学诊断、管理和护理,这是鲜为人知的,最近才被描述的。皮肤病学表现是重要的临床诊断要素,可以帮助皮肤病的鉴别诊断。它们可影响真皮和表皮,引起色素沉着病变(黑素细胞痣、卡黑素黑斑和扁豆斑)、角化过度(毛糙角化病、发性红斑和掌跖角化病)或增生。迄今为止,很少有已知的与恶性肿瘤的联系,但通常皮肤病变需要密切关注,因为它们会严重影响生活质量。
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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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