Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multicenter cohort study - 20/06/23
, Charis Eng, MD, PhD a, b, i, j, k, l, ⁎ for the
Developmental Synaptopathies Consortium
Abstract |
Background |
Dermatologic phenotypes in PTEN hamartoma tumor syndrome (PHTS) are heterogeneous and poorly documented.
Objective |
To characterize dermatologic findings among PHTS and conduct an analysis of genotype-dermatologic phenotype associations.
Methods |
Mucocutaneous findings were reviewed in a multicenter cohort study of PHTS. Genotype-dermatologic phenotype associations were tested using multivariable regression.
Results |
A total of 201 patients were included. Children were significantly less likely than adults to have oral papillomas, vascular malformations, benign follicular neoplasms, and acral keratoses. There were no cases of skin cancer among children. Basal cell carcinoma, cutaneous squamous cell carcinoma, and melanoma developed in 5%, 2%, and 1% of White adults, respectively. After adjusting for age, missense mutations were associated with 60% lower odds of developing cutaneous papillomatous papules (odds ratio: 0.4; 95% confidence interval [0.2, 0.7]), oral papillomas (0.4; 95% confidence interval [0.2, 0.9]), and vascular malformations (0.4; 95% confidence interval [0.2, 0.8]).
Limitations |
Partly retrospective data.
Conclusion |
Children are less likely than adults to have certain dermatologic findings, likely due to age-related penetrance. The risk of pediatric melanoma and the lifetime risk of nonmelanoma skin cancer in PHTS may not be elevated. Missense variants may be associated with the development of fewer dermatologic findings but future validation is required.
Le texte complet de cet article est disponible en PDF.Key words : genotype, melanoma, nonmelanoma, PTEN, PTEN hamartoma tumor syndrome
Abbreviations used : ASD, DSC, PHTS
Plan
| Funding sources: Supported, in part, by the National Institutes of Health Developmental Synaptopathies Consortium (U54NS092090; PI/Network Director: Sahin; Project 2 PI: Eng). The Developmental Synaptopathies Consortium (U54NS092090) is part of the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS). Research reported in this publication was also supported by the National Institute of Neurological Disorders and Stroke of the National Institutes of Health (NINDS), Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institute of Mental Health (NIMH), and National Center for Advancing Translational Sciences (NCATS). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health (NIH). Dr Eng is the Sondra J. and Stephen R. Hardis Endowed Chair of Cancer Genomic Medicine at the Cleveland Clinic and an ACS Clinical Research Professor. Dr Sahin is the Rosamund Stone Zander Chair at Boston Children’s Hospital. |
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| IRB approval status: The IRB at each involved institution approved this study. |
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| Reprints not available from the authors. |
Vol 89 - N° 1
P. 90-98 - juillet 2023 Retour au numéro
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