Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1

Area of Science:

• Dermatology
• Genetics
• Oncology

Background:

• Myotonic dystrophy type 1 (DM1) is a multisystem disorder.
• Basal cell carcinoma (BCC) is the most common human cancer.
• Hereditary syndromes can predispose individuals to BCC.

Observation:

• A 60-year-old male with DM1 and a history of non-melanoma skin cancer presented with numerous facial and truncal papules.
• Clinical presentation was highly suspicious for basal cell carcinoma (BCC).
• Extensive BCC and early onset raised concern for a hereditary BCC syndrome.

Findings:

• Histopathology confirmed multiple basal cell carcinomas (BCCs).
• Genetic testing excluded basal cell nevus syndrome.
• Clinical features did not align with other known hereditary BCC syndromes.

Implications:

• This case highlights a potential, though under-recognized, association between myotonic dystrophy type 1 (DM1) and basal cell carcinoma (BCC).
• Increased awareness among clinicians is crucial for timely diagnosis and management.
• Further research may elucidate the underlying mechanisms connecting DM1 and BCC development.