Mosaic Muir Torre Syndrome: Keratoacanthoma as a Piece of the Puzzle

Author:

O'Brien Amber1,Macfarlane Sarah2,Sommerlad Matthew23,Schirwani Schaida245

Affiliation:

1. Faculty of Medicine, University of Southampton, Southampton, England;

2. Dermatology Department;

3. Pathology Department, University Hospital Southampton NHS Foundation Trust, Southampto, England;

4. Wessex Clinical Genetics Service, Southampton, England; and

5. Human Development & Health, Faculty of Medicine, University of Southampton, Institute of Developmental Sciences Building, Southampton, England.

Abstract

Abstract: Lynch syndrome is an inherited condition, which increases the risk of numerous visceral malignancies and cutaneous tumors such as keratoacanthomas and sebaceous tumors. It is typically identified by immunohistochemistry of tissue taken from tumors or through genetic testing with next-generation sequencing. Diagnosing Lynch syndrome becomes more complex when the individual is mosaic for the relevant pathogenic variant. There are very few cases of this reported in the medical literature. It is even more unusual for the diagnosis to be made based on testing of a keratoacanthoma lesion. We report a case where immunohistochemistry of a keratoacanthoma helped make a diagnosis of mosaic Lynch syndrome. We will explore how mosaicism should be considered when a phenotype is strong, even if next-generation sequencing reports no pathogenic or likely pathogenic variant and how lesions such as keratoacanthomas can have a role in the early detection and treatment of future malignancies.

Publisher

Ovid Technologies (Wolters Kluwer Health)

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