Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity

@article{Caux2007SegmentalOL,
  title={Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity},
  author={Fr{\'e}d{\'e}ric Caux and Henri Plauchu and Fr{\'e}d{\'e}ric Chibon and Laurence Faivre and Olivier Fain and Pierre Vabres and Françoise Bonnet and Zied Ben Selma and Liliane Laroche and Marion G{\'e}rard and Michel Longy},
  journal={European Journal of Human Genetics},
  year={2007},
  volume={15},
  pages={767-773}
}
We describe two patients from distinct Cowden disease families with specific germline PTEN mutations whose disease differs from the usual appearance of Cowden disease. Their phenotype associates classical manifestations of Cowden disease and congenital dysmorphisms including segmental overgrowth, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus reminiscent of the diagnosis of Proteus syndrome. We provide evidence in one of the two patients of a… CONTINUE READING