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Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multi-center cohort study

Journal of the American Academy of Dermatology Feb 09, 2022

In a multicenter cohort study of PTEN hamartoma tumor syndrome (PHTS), there was less likelihood of having certain dermatologic findings among children than adults, possibly because of age-related penetrance. In PHTS, no increased risk of pediatric melanoma and no elevated life-time risk of non-melanoma skin cancer may be present. There may be an association between missense variants and development of fewer dermatologic findings, however, future validation is needed.

  • In this study of 201 patients, the probability of having oral papillomas, vascular malformations, benign follicular neoplasms, and acral keratoses was less among children than adults.

  • In pediatric patients, no cases of skin cancer were present.

  • Development of basal cell carcinoma, cutaneous squamous cell carcinoma, and melanoma was evident in 5%, 2%, and 1% of white adults, respectively.

  • A 60% lower odds of developing cutaneous papillomatous papules (Odds Ratio: 0.4), oral papillomas (0.4), and vascular malformations (0.4) was observed in relation to missense mutations, post-adjusting for age.

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