Keratinocyte Cancer Risk and Porokeratosis Mevalonate Pathway Variants
Menée à partir de données portant sur 12 815 témoins et 2 684 personnes atteints de porokératose, cette étude analyse l'association entre cette maladie et le risque de cancer de la peau chez les personnes porteuses de variants pathogènes des gènes de la voie du mévalonate
Porokeratosis is an epidermal differentiation disorder caused by germline pathogenic variants in mevalonate pathway genes, with a second-hit mutation in lesional skin. Many with germline variants have limited disease and may not seek care. Porokeratosis lesions are frequently mistaken for benign conditions, contributing to underdiagnosis.A significant and underrecognized comorbidity of porokeratosis is its association with skin cancer. Prior studies of porokeratosis have relied on clinical and histopathologic diagnoses with increased skin cancer risk primarily for nonmelanoma skin cancer (NMSC), with the strongest association seen for squamous cell carcinoma (SCC).
JAMA Dermatology , article en libre accès, 2026