We hope this review will serve as a helpful guide for patients and dermatologists to understand, diagnose, and manage the cutaneous manifestations of Birt-Hogg-Dubé (BHD) syndrome.

This represents a novel systemic therapeutic option for this subtype of metastatic MC and highlights the utility of bioinformatic HRDetect scoring for revealing non-canonical cutaneous malignancies driven by HRD.

In this study, we summarize the standard of care for malignant cylindroma and detail the use of WGS to uncover targetable somatic genetic drivers of malignant cylindroma, revealing non-canonical BRCA and homologous repair-deficient tumour amenable to targeting by PARP inhibition.

There are no licensed antineoplastic agents available for treatment, leaving patients with limited, empirical options in the event of metastasis.

Malignant cylindroma is a rare skin adnexal tumour which can occur in CYLD cutaneous syndrome. This cancer can metastasize with lethal outcomes and has limited genomic characterization due to its rare disease status.

CYLD cutaneous syndrome is a rare genodermatosis caused by pathogenic variants in CYLD which results in the development of cylindromas, spiradenomas, and tricoepitheliomas. www.ncbi.nlm.nih.gov/books/NBK555...

Credit to supervisors @derm-scientist.bsky.social and @serenanikzainal.bsky.social and co-authors Dr. Koh, Ms. Holt, Dr. Husain, Dr. Namini, Dr. Mathew, Dr. Memari, and Dr. Davies for their hard work on this project 👏🏼

academic.oup.com/ced/advance-...