Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Apr;22(2):167-175.
doi: 10.1007/s10689-022-00319-8. Epub 2022 Nov 23.

Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review

Shahram Aziz  1   2 , Hazel O'Sullivan  3 , Kara Heelan  3 , Afrina Alam  4 , Terri P McVeigh  3
Affiliations

Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review

Shahram Aziz et al. Fam Cancer. 2023 Apr.

Abstract

A subset of patients with Lynch Syndrome demonstrates cutaneous manifestations of the disorder. Characterization of these Lynch-related skin lesions could help in early recognition of patients with Lynch Syndrome. A broad search of the literature on OVID Medline and Embase was carried out to capture papers reporting cutaneous manifestations in Lynch Syndrome patients. The results were uploaded into Mendeley reference management software. The PRISMA workflow was used in the literature selection process. In this systematic review, data were collected from 961 cases from 413 studies, including 380 molecularly confirmed Lynch Syndrome cases. The main skin lesions were: Sebaceous adenomas (43%), sebaceous carcinomas (27%), keratoacanthomas (16%), sebaceomas (13%), squamous cell carcinomas (23%), and basal cell carcinomas (10%). MSH2 variants were the most common underlying genotype (72%). Assessment of mismatch repair by immunohistochemistry, microsatellite instability analysis, or both were performed on 328 skin lesions from 220 (58%) molecularly confirmed cases. In those skin lesions, 95% of Immunohistochemistry and 90% of the microsatellite instability test results were concordant with the underlying genotype. Sebaceous skin lesions are well-recognised phenotypic features of Lynch Syndrome. Our results show that squamous and basal cell carcinomas are relatively common in patients with Lynch syndrome; however, available evidence cannot confirm that Lynch syndrome is causal. Immunohistochemistry and/or microsatellite instability testing of skin tumours in patients with a family history of Lynch Syndrome-associated cancers may be a useful approach in identifying patients requiring referral to Clinical Genetics and/or consideration of germline genetic testing for Lynch Syndrome.

Keywords: Lynch syndrome; Mismatch repair; Muir-Torre syndrome; Sebaceous tumour; squamous cell cancer; basal cell cancer.

PubMed Disclaimer

Conflict of interest statement

The authors declare no competing interests.

The authors have no relevant financial or non-financial interests to disclose.

Figures

Fig. 1
Fig. 1
Flowchart showing the literature selection process following PRISMA guidelines
Fig. 2
Fig. 2
Flowchart showing the number of cases included in this review, their genotypes, and results of immunohistochemistry and microsatellite instability testing of skin lesions
See this image and copyright information in PMC

References

    1. National Institute for Health and Clinical Excellence (2017) Molecular testing strategies for Lynch syndrome in people with colorectal cancer. NICE Diagnostics Guidance. https://www.nice.org.uk/guidance/dg27
    1. Biller LH, Syngal S, Yurgelun MB. Recent advances in Lynch syndrome. Fam Cancer. Springer. 2019;18(2):211–219. doi: 10.1007/s10689-018-00117-1. - DOI - PMC - PubMed
    1. Da Silva FC, De Oliveira LP, Santos EM, Nakagawa WT, Junior SA, Valentin MD, et al. Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry. Fam Cancer. Springer. 2010;9(4):563–570. doi: 10.1007/s10689-010-9373-2. - DOI - PubMed
    1. Barrow E, Robinson L, Alduaij W, Shenton A, Clancy T, Lalloo F, et al. Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clin Genet. 2009;75(2):141–149. doi: 10.1111/j.1399-0004.2008.01125.x. - DOI - PubMed
    1. Hitchins MP, Ward RL. Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet. 2009;46(12):793–802. doi: 10.1136/jmg.2009.068122. - DOI - PubMed

Publication types

Substances

LinkOut - more resources