Skin Cancer Risk is not Elevated in Children With PTEN Hamartoma Tumor Syndrome

Children with PTEN hamartoma tumor syndrome (PHTS) are less likely than adults to have certain dermatologic findings and skin cancer, according to a recent study published in the Journal of the American Academy of Dermatology.

Researchers aimed to characterize dermatologic findings among patients with PHTS by conducting an analysis of genotype-dermatologic phenotype associations in a multicenter cohort study of PHTS. The study used multivariable regression to test genotype-dermatologic phenotype associations in a total of 201 patients.

Adults were more likely to have oral papillomas, vascular malformations, benign follicular neoplasms, and acral keratoses. Skin cancer cases were not found in children, but 5% of White adults developed basal cell carcinoma, 2% developed cutaneous squamous cell carcinoma, and 1% developed melanoma. The odds of developing cutaneous papillomatous papules, oral papillomas, and vascular malformations were 60% lower when associated with missense mutations.

The study investigators concluded that adults are more likely to have certain dermatologic findings than children due to age-related gene expression. “The risk of pediatric melanoma and the life-time risk of non-melanoma skin cancer in PHTS may not be elevated,” wrote lead author Frederick Morgan, Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio, and colleagues. “Missense variants may be associated with the development of fewer dermatologic findings but future validation is required,” they added.

Reference
Morgan FC, Yehia L, McDonald C, et al. Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: results of a multi-center cohort study. J Am Acad Dermatol. Published online Febraury 7, 2022. doi:10.1016/j.jaad.2022.01.045