PTEN analysis should be considered in any child presenting with macrocephaly and dermatologic features and/or mental retardation and/or hamartomatous overgrowth involving the skin, the subcutaneous tissue, and the bowel. PHTS leads to an increased risk of developing breast, skin, colorectal, endometrial, and thyroid malignancies, which indicates that cancer surveillance is the cornerstone of management.
Graziani V., Dal Bo S., Giovannini M., Marchetti F. (2018). Clinical presentation of PTEN mutations. PEDIATRICS & NEONATOLOGY, 59(4), 425-426 [10.1016/j.pedneo.2018.01.012].
Clinical presentation of PTEN mutations
Marchetti F.
2018
Abstract
PTEN analysis should be considered in any child presenting with macrocephaly and dermatologic features and/or mental retardation and/or hamartomatous overgrowth involving the skin, the subcutaneous tissue, and the bowel. PHTS leads to an increased risk of developing breast, skin, colorectal, endometrial, and thyroid malignancies, which indicates that cancer surveillance is the cornerstone of management.File in questo prodotto:
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