Abstract
The term “PTEN hamartoma tumor syndrome” (PHTS) has been used to refer to a spectrum of disorders that are linked to autosomal dominant mutations in the phosphatase and tensin homolog (PTEN) gene. These include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, adult Lhermitte-Duclos disease, and autism spectrum disorders associated with macrocephaly. Clinically, Cowden disease is characterized by mucocutaneous facial papules, gingival papillomas, keratoses of the palms and soles, and increased risks for malignancies. Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) comprises a benign cerebellar mass, which is characterized by enlargement of the cerebellar folia with rather typical imaging and histopathological findings. Bannayan-Riley-Ruvalcaba syndrome features excessive growth before and after birth (large birth weight), manifesting as macrocephaly, lipomas, retinal malformations, benign hamartomas of the subcutaneous tissue, within the intestines or the pharynx and tonsils, and/or abnormally pigmented areas of skin. The clinical characteristics, diagnosis criteria, and management options of the syndromes are reviewed in this chapter.
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Panteliadis, C.P. (2022). Cowden Disease, Lhermitte-Duclos Disease, and Bannayan-Riley-Ruvalcaba Syndrome. In: Panteliadis, C.P., Benjamin, R., Hagel, C. (eds) Neurocutaneous Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-87893-1_13
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