Journal Scan / Research · July 30, 2022 Tuberous Sclerosis and Risk of Skin Cancer Journal of the American Academy of Dermatology

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• This retrospective cohort study involving 1917 patients with tuberous sclerosis (TSC) matched (1:10) with controls without TSC found that patients with TSC have increased odds of melanoma diagnosis, particularly White patients with TSC. There was no significant association between TSC and the diagnosis of squamous cell carcinoma or basal cell carcinoma.

• Patients with TSC appear to be at an increased risk of developing melanoma but not keratinocyte neoplasms.

–  Kelly B. Scarberry, MD

Abstract

Tuberous sclerosis (TSC) is an autosomal dominant genetic syndrome affecting 1 in 6000 individuals. TSC patients can develop benign tumors of the kidney, heart, skin and brain. TSC is caused by loss of function mutations in the tumor suppressor genes TSC1 or TSC2, leading to hyperactivation of mammalian target of rapamycin (mTOR) signaling pathways and uninhibited cell cycle progression. Although TSC patients often present to dermatology clinics for skin 53 concerns, the risk of skin cancer in individuals with TSC has not been systematically quantified.

Journal of the American Academy of Dermatology

Tuberous sclerosis and risk of skin cancer: A nationwide cohort study in the United States

J Am Acad Dermatol 2022 Jun 18;[EPub Ahead of Print], P Trinh, S Li, KY Sarin 

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Benjamin Hidalgo-Matlock
Skin Care Physicians of Costa Rica

Clinica Victoria en San Pedro: 4000-1054
Momentum Escazu: 2101-9574

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