Back to Search
Start Over
Dermoscopic Features of Melanocytic Nevi in Cardiofaciocutaneous and Costello Syndromes.
- Source :
-
JAMA dermatology [JAMA Dermatol] 2024 Aug 01; Vol. 160 (8), pp. 869-873. - Publication Year :
- 2024
-
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.<br />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).<br />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.<br />Main Outcomes and Measures: The main outcomes were dermoscopic features and, in the longitudinal follow-up study, nevi counts, which were recorded over time.<br />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).<br />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.
- Subjects :
- Humans
Male
Female
Prospective Studies
Child
Adolescent
Young Adult
Follow-Up Studies
Adult
Heart Defects, Congenital complications
Heart Defects, Congenital genetics
Heart Defects, Congenital pathology
Child, Preschool
Facies
Neurocutaneous Syndromes diagnosis
Neurocutaneous Syndromes pathology
Neurocutaneous Syndromes genetics
Cohort Studies
Longitudinal Studies
Ectodermal Dysplasia
Nevus, Pigmented pathology
Nevus, Pigmented genetics
Nevus, Pigmented diagnosis
Dermoscopy
Costello Syndrome genetics
Costello Syndrome pathology
Skin Neoplasms pathology
Skin Neoplasms genetics
Skin Neoplasms diagnosis
Failure to Thrive etiology
Subjects
Details
- Language :
- English
- ISSN :
- 2168-6084
- Volume :
- 160
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- JAMA dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 38888893
- Full Text :
- https://doi.org/10.1001/jamadermatol.2024.1697