Dermoscopic Features of Melanocytic Nevi in Cardiofaciocutaneous and Costello Syndromes.

IF 11.5 1区医学 Q1 DERMATOLOGY JAMA dermatology Pub Date : 2024-08-01 DOI:10.1001/jamadermatol.2024.1697

Alexandra R Vaughn, Summer N Meyer, Zaeem H Nazir, Jennifer Tavernetti, Elanee Simmons, Hong Li, Irina Rybak, Katherine A Rauen, Ashfaq A Marghoob, Maija Kiuru

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引用次数: 0

Abstract

Importance: Somatic variants in the RAS/MAPK pathway genes are commonly associated with melanocytic nevi and melanoma, whereas germline variants in these genes are associated with RASopathies, syndromes involving multiple organs, including the skin. Nevi counts may be higher in some RASopathies, but studies on features observed through dermoscopy are limited.

Objective: To determine the distinguishing dermoscopic features of melanocytic nevi and how the RAS pathway influences them by comparing nevi in patients with cardiofaciocutaneous syndrome (CFC) and Costello syndrome (CS).

Design, setting, and participants: In this prospective cohort study, patients with CFC and CS, 2 RASopathies caused by variants in the downstream and upstream components of the RAS/MAPK pathway, were recruited from the international CFC and CS family conferences. Some patients with CFC also elected to participate in a longitudinal follow-up study.

Main outcomes and measures: The main outcomes were dermoscopic features and, in the longitudinal follow-up study, nevi counts, which were recorded over time.

Results: A total of 39 patients, 16 with CFC and 23 with CS, were enrolled (overall cohort: 26 [66.7%] female; median [IQR] age, 13.0 [7.6-22.0] years). The 112 nevi overall frequently displayed an organized dermoscopic pattern (CFC, 61 [84.7%]; CS, 34 [85.0%]) rather than a disorganized pattern (CFC, 6 [8.3%]; CS, 1 [2.5%]). Of the organized nevi, homogenous brown was the most common pattern (CFC, 41 [67.2%]; CS, 22 [64.7%]), followed by reticular (CFC, 11 [18.0%]; CS, 7 [20.6%]) and globular (CFC, 9 [14.8%]; CS, 5 [14.7%]). Pigmented networks occurred in 12 nevi in CFC (16.7%) and 6 nevi in CS (15%; P > .99). Of these, 6 CFC-associated nevi (50%) and no CS-associated nevi had atypical networks (P = .05). Six patients with CFC in the follow-up study developed significantly more nevi within 5 years (median [IQR] increase, 24.5 [10-120] nevi; P = .04).

Conclusions and relevance: In this cohort study, the findings suggest that nevi in patients with CFC and CS commonly display organized homogenous brown dermoscopic patterns, and the number of nevi may significantly increase over time in those with CFC. A disorganized pattern and atypical networks may be more frequent in patients with CFC. Future studies are needed to determine the risk of melanoma in individuals with CFC or CS.

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心脏皮肤综合征和科斯特洛综合征中黑色素细胞痣的皮肤镜特征。

重要性：RAS/MAPK通路基因的体细胞变异通常与黑素细胞痣和黑素瘤有关，而这些基因的种系变异则与RAS病有关，RAS病是一种涉及包括皮肤在内的多个器官的综合征。某些 RAS 病的黑素细胞痣数量可能较多，但通过皮肤镜观察到的特征研究却很有限：目的：通过比较贲门失弛缓综合征（CFC）和科斯特罗综合征（CS）患者的痣，确定黑素细胞痣的皮肤镜鉴别特征以及 RAS 通路如何影响这些特征：在这项前瞻性队列研究中，从国际 CFC 和 CS 家族会议上招募了 CFC 和 CS 患者，这两种 RAS 病是由 RAS/MAPK 通路下游和上游成分的变异引起的。部分CFC患者还选择参加一项纵向随访研究：主要结果是皮肤镜特征，在纵向随访研究中，痣的数量随时间而记录：共有 39 名患者参加了研究，其中 16 人患有 CFC，23 人患有 CS（总人数：26 人[66.7%]为女性；年龄中位数[IQR]为 13.0 [7.6-22.0] 岁）。112个痣总体上经常表现为有组织的皮肤镜模式（CFC，61 [84.7%]；CS，34 [85.0%]），而不是无组织的模式（CFC，6 [8.3%]；CS，1 [2.5%]）。在有组织的痣中，同质棕色是最常见的形态（CFC，41 [67.2%]；CS，22 [64.7%]），其次是网状（CFC，11 [18.0%]；CS，7 [20.6%]）和球状（CFC，9 [14.8%]；CS，5 [14.7%]）。CFC 中有 12 个痣（16.7%）出现色素网，CS 中有 6 个痣（15%；P > .99）。其中，6 个 CFC 相关痣（50%）和没有 CS 相关痣有非典型网络（P = .05）。在随访研究中，6 名患有 CFC 的患者在 5 年内出现的痣明显增多（中位数 [IQR] 增加，24.5 [10-120] 个痣；P = .04）：在这项队列研究中，研究结果表明，CFC 和 CS 患者的痣通常表现为有组织的同质棕色皮损，而且随着时间的推移，CFC 患者的痣数量可能会明显增加。在CFC患者中，杂乱无章的图案和非典型网络可能更为常见。今后还需要进行研究，以确定CFC或CS患者罹患黑色素瘤的风险。

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来源期刊

JAMA dermatology DERMATOLOGY-

CiteScore

14.10

自引率

5.50%

发文量

300

期刊介绍： JAMA Dermatology is an international peer-reviewed journal that has been in continuous publication since 1882. It began publication by the American Medical Association in 1920 as Archives of Dermatology and Syphilology. The journal publishes material that helps in the development and testing of the effectiveness of diagnosis and treatment in medical and surgical dermatology, pediatric and geriatric dermatology, and oncologic and aesthetic dermatologic surgery. JAMA Dermatology is a member of the JAMA Network, a consortium of peer-reviewed, general medical and specialty publications. It is published online weekly, every Wednesday, and in 12 print/online issues a year. The mission of the journal is to elevate the art and science of health and diseases of skin, hair, nails, and mucous membranes, and their treatment, with the aim of enabling dermatologists to deliver evidence-based, high-value medical and surgical dermatologic care. The journal publishes a broad range of innovative studies and trials that shift research and clinical practice paradigms, expand the understanding of the burden of dermatologic diseases and key outcomes, improve the practice of dermatology, and ensure equitable care to all patients. It also features research and opinion examining ethical, moral, socioeconomic, educational, and political issues relevant to dermatologists, aiming to enable ongoing improvement to the workforce, scope of practice, and the training of future dermatologists. JAMA Dermatology aims to be a leader in developing initiatives to improve diversity, equity, and inclusion within the specialty and within dermatology medical publishing.

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