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PTEN hamartoma tumour syndrome: variability of an entity

2003; BMJ; Volume: 40; Issue: 10 Linguagem: Inglês

10.1136/jmg.40.10.e111

1468-6244

Johannes H. M. Merks,

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owden syndrome (CS; OMIM 158350) is an autosomal dominant disorder with age related penetrance characterised by mucocutaneous lesions, macrocephaly and an increased risk of cancer, especially of the breast, thyroid and endometrium. 1 2The phenotype in CS has proven to be highly variable, which became especially evident after identification of the susceptibility gene PTEN. 3 4This is also shown in the change in incidence figures, which were found to be at least five times higher after PTEN was identified (estimated incidence before PTEN identification 1:1 000 000, 5 and after .1:200000. 6 7).Bannayan-Riley-Ruvalcaba syndrome (BRRS; OMIM 153480) is allelic to CS and is characterised by the triad of macrocephaly, lipomas, and pigmented macules of the glans penis. 8Proteus syndrome (PS; OMIM 176920) is a disorder characterised by overgrowth of hands and/or feet, asymmetry of limbs, connective tissue, and epidermal naevi, vascular and lymphatic malformations, and cranial hyperostosis. 8Proteus-like syndrome (PLS) is another closely related disorder, where individuals are characterised by the presence of macrocephaly, lipomas and overgrowth not meeting the criteria for CS, BRRS, or PS. 8 Germline PTEN mutations have been found in 80% of individuals with CS, 60% of individuals with BRRS, up to 20% with PS, and 50% with PLS. 9 10Here, we present a family (a mother and three sons) in which phenotype was extremely variable, one member having macrocephaly, normal intelligence, and minimal pigmentation abnormalities; another member with macrocephaly with developmental delay; another with macrocephaly, delay and lipoma; and the last member having hemimegalencephaly (HME), Jadassohn naevus sebaceous, and neonatal demise.All were found to have the same germline mutation in PTEN.