A man in his early 60s with myotonic dystrophy type 1 (DM1) and an extensive history of non-melanoma skin cancer presented with multiple pearly, erythematous papules on his face, head, trunk and extremities, clinically consistent with basal cell carcinoma (BCC). Due to the numerous BCC and history of multiple and early-onset BCC, examination was concerning for a hereditary BCC syndrome. Subsequent histopathology confirmed BCC. Genetic testing was negative for basal cell nevus syndrome and clinical findings were inconsistent with other known hereditary BCC syndromes. There have been reports of an association between DM1 and BCC, however, it is not well known among clinicians. We hope to raise awareness among clinicians about this association.
- muscle disease
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Contributors JF and MA were responsible for the conceptualisation of the project. JF, AL and MA collected the data, analysed and interpreted the data. JF was the primary author of the manuscript. All authors (JF, AL, DAS and MA) were involved in the drafting and critical revision of the article. All authors approved the final version of the article.
Funding The study was funded by National Institute of Arthritis and Musculoskeletal and Skin Diseases (grant number: K24 AR069760).
Competing interests MA receives grant funding from Pfizer Inc. and Valeant Pharmaceuticals for unrelated studies on health outcomes in psoriasis and eczema. D.A.S. was supported by the Glenn Foundation for Medical Research and grants from the NIH (R37 AG028730, R01 AG019719 and R01 DK100263). D.A.S. is a founder, equity owner, board member, advisor to, director of, consultant to, investor in and/or inventor on patents licensed to Vium, Jupiter Orphan Therapeutics, Cohbar, Galilei Biosciences, GlaxoSmithKline, OvaScience, EMD Millipore, Wellomics, Inside Tracker, Caudalie, Bayer Crop Science, Longwood Fund, Zymo Research, EdenRoc Sciences (and affiliates Arc-Bio, Dovetail Genomics, Claret Bioscience, Revere Biosensors, UpRNA and MetroBiotech (an NAD booster company), Liberty Biosecurity), Life Biosciences (and affiliates Selphagy, Senolytic Therapeutics, Spotlight Biosciences, Animal Biosciences, Iduna, Immetas, Prana, Continuum Biosciences, Jumpstart Fertility (an NAD booster company), and Lua Communications). D.A.S. sits on the board of directors of both companies. D.A.S. is an inventor on a patent application filed by Mayo Clinic and Harvard Medical School that has been licensed to Elysium Health; his personal royalty share is directed to the Sinclair lab. For more information see https://genetics.med.harvard.edu/sinclair-test/people/sinclair-other.php.
Provenance and peer review Not commissioned; externally peer reviewed.
Patient consent for publication Obtained.