Maggio 2017 - Volume XXXVI - numero 5
Percorsi clinici
1UOC di Pediatria e Neonatologia, Ospedale di Ravenna, AUSL della Romagna
2UO di Genetica Medica, Laboratorio Unico della Romagna, Pievesestina, Cesena, AUSL della Romagna
3UO di Genetica Medica, Azienda Ospedaliero-Universitaria di Bologna
4Pediatra di famiglia, Massa Lombarda (Ravenna)
5UOC di Radiologia, Ospedale di Ravenna, AUSL della Romagna
Indirizzo per corrispondenza: vanna.graziani@gmail.com
Key words: PTEN mutations, Macrocephaly, Lipomatous lesions, PTEN Hamartoma Tumour Syndrome (PHTS)
Mutations of tumour suppressor gene PTEN (Phosphatase and Tensin homologue deleted on chromosome 10) predispose to phenotypically diverse disorders, with several overlapping clinical features, collectively classified as PTEN hamartoma tumour syndrome (PHTS). The paper presents the case of a 6-year-old girl with macrocephaly and multiple lipomatous lesions, diagnosed as a de novo PTEN mutation. PTEN testing should be considered in any child presenting with macrocephaly and dermatologic features and/or hamartomatous overgrowth and/or mental delay. PHTS leads to an increased risk of developing breast, skin, colorectal, endometrial and thyroid malignancies, therefore cancer surveillance is the cornerstone of management. Recently, rapamycin treatment has been proposed.
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