TSC Group - Tuberous Sclerosis



Tuberous Sclerosis is a rare multi-systemic disease, which requires the intervention of a number of specialists. For the first time in Italy a multidisciplinary working group has formed within the San Paolo Hospital -University Centre, whose objective is the treatment and study of this pathology.


Tuberous Sclerosis (TSC) is a dominant genetic autosomal disease. In most cases the onset of the TSC is the result of sporadic mutations; only 33% of patients inherit the disease from the parents. The TSC causes multiple benign neoplasias in few organs such as the brain, eyes, heart, kidneys, skin and lungs. Symptoms vary from patient to patient and also between affected members of the same family. Because of the variability of the symptoms, it is very important for the patient to be followed up by a team of experts, who can recognize them as well as other clinical signs to plan possible future treatment strategies.


The real incidence of the TSC is not known, but it is estimated around 1 case every 6000 children born alive. This means that there could be up to 10000 TSC-affected people in Italy and over a million in the world.


Two main genes has been identified: TSC1 (on chromosome 9) and TSC2 (on chromosome 16).  The mutation in TSC1 or TSC2 is sufficient to cause the disease. There is not yet any record of patients with mutations in both genes.


The TSC Study and Research Group of the San Paolo Hospital aims at analysing each and every clinical and biological aspect that can help understanding the TSC and its causes through a set of specific and well-coordinated diagnostic-therapeutic procedures. These will facilitate the determination of the cure in the different organs and parts of the human body affected by this pathology.

When necessary, the diagnostic procedures are executed under pharmacologic sedation thanks to the cooperation with the Anaesthesia and Intensive Care Units headed by Professor Gaetano Iapichino and with the DAMA project.

The work schedule will assist in achieving some important results. It will, indeed, be possible to:

-Identify the relationship between genetic modification and clinical signs of the TSC in the forms involving the brain. The in-depth examination will provide significant data to improve the cure of epilepsy and to better understand mental retardation and deterioration;

-Each organ and area will be studied by specialists (skin, kidney, heart, liver, lungs, eyes, oral cavity and pelvic organs) so that patients and their families will obtain a clear picture of the disease;

-Face the emerging or urgent complications of the disease with the long experience of a multidisciplinary, independent, medical-surgical and anaesthesiological team operating on the ground (DAMA).

The complexity of the TSC and its cure have prompted the doctors and researchers of the San Paolo Hospital and University  Centre to flow together into a single Study Group exclusively dedicated to this important pathology. The San Paolo Hospital has, indeed, become the Regional Centre for the Diagnosis and Treatment of Tuberous Sclerosis.

Seven years after its formation, TSC-affected patients who are being treated at the San Paolo Hospital are more than 70. Every year more than 15 new patients are from other Italian regions.


The coordinator of the TSC Group is Mr Alfredo Gorio, ordinary professor of Pharmacology at the University of Milan - San Paolo University Centre. Professor Gorio is in charge of the general management of the group and its projects, in connection with the international work projects led by Prof. Joel Moss.

The Operational Units involved are the following:

Centro Regionale per l’Epilessia (Regional Centre for Epilepsy)

Nefrologia e Dialisi (Nephrology and Dialysis)

Clinica Pediatrica (Paediatrics)

Clinica Oculistica (Ophtalmology)

Clinica Dermatologica (Dermathology)


Clinica Odontoiatrica  (Dentistry)

Diagnostica Molecolare (Anatomia Patologica) (Pathologic Anatomy)

Radiologia (Radiology)

Pneumologia (Pneumology)

Cardiologia (Cardiology)

Ostetrica e Ginecologia (Gynaecology and Obstetrics)

Servizio di Anestesia e Rianimazione (Intensive Care Unit)

Psichiatria Clinicizzata II (Psychiatry)

Clinical evaluations can be performed under both outpatients and hospitalized (also day hospital) regimes. The results of tests are collected in one personal file, which is updated by a dedicated team formed by doctors and students, who jointly decide the patients’ clinical priorities and follow-up programmes. When necessary, other highly-qualified professionals or medical centres are approached for consultation.


Day Hospital/ Outpatients regimes: dott.ssa F. La Briola, Regional Centre for Epilepsy/Centro Regionale per l’Epilessia (02.8184.4201 / cell. 333.2375640)

DAMA 840027999

e-mail : gruppotsc@ao-sanpaolo.it

TSC Study and Research Group of the San Paolo Hospital
Milan - Italy

translated by Irene Galluccio