CSUR at Hospital Germans Trias: Genetic neurocutaneous syndromes (Phakomatosis)

The Germans Trias i Pujol University Hospital, together with the Catalan Institute of Oncology, is a centre, service and referral unit for the care of adult patients with genetic neurocutaneous syndromes (Phakomatosis).

 

 

 

Phakomatosis is a group of hereditary diseases that all involve small tumours in different parts of the body, being present in the eye, skin, viscera and particularly the nervous system.

It includes the following diseases:

• Neurofibromatosis or von Recklinghausen's disease
• Tuberous sclerosis or Bourneville's disease
• Sturge-Weber syndrome 
• von Hippel-Lindau disease.

Hospital Sant Joan de Déu, in Barcelona, monitors patients affected by Phakomatosis during childhood. When these patients reach adulthood, they are referred to Hospital Germans Trias i Pujol so that the disease can continue to be monitored in our CSUR.