With the purpose of providing comprehensive care to patients with this paediatric pathology, the Functional Unit diagnoses, treats and manages patients, with a multidisciplinary approach offered by the Genodermatosis Committee.
It is a comprehensive programme focused on the early diagnosis and management of the proper treatment for patients with genodermatosis. The main pathology assessed in this Functional Unit is Neurofibromatosis Type 1 (NF1), given that this has the highest incidence (1/3500). However, patients with tuberous sclerosis (incidence 1/6000-1/9000) and incontinentia pigmenti (1/40000) are also treated. Patients with other less common types of genodermatosis are also susceptible to assessment if a multidisciplinary approach is required (Sturge-Weber syndrome, Rothmund Thompson syndrome, etc.).
Paediatric genodermatosis Coordinators
Dra. Esther Roé (Dermatology Service) Eroe@antpau.cat
Dra. Susana Boronat (Paediatrics Service) SBoronat@santpau.cat
Healthcare team and assigned services:
Dra. Esther Roé, Dra. Helena Izquierdo – Dermatology.
Dra. Laia Turon - Paediatrics (Neuropaediatrics).
Dra. Sara Bernal- Genetics.
Dra. Sabina Lluna - Ophthalmology.
Dra. Montse Torrent/ Dr. Vicente Serna - Paediatric oncology.
Dra. Roser Álvarez - Paediatric cardiology.
Dra. Esther Granell - Radiology.
Eva Tobajas (Paediatrics), Sandra Ros (Dermatology) - Psychologists.
Dr. Gloria Fraga - Paediatrics Nephrology.
Dr. Soria, Dr. Pulido - Child Traumatology.
Dr. Susana López - Plastic Surgery (consultant).
Dr. Rodrigo Rodríguez - Neurosurgery (consultant)
Luisa Montero - Nursing of the Paediatrics Day Hospital.
Rosario Gaitán - Administrative of the Paediatrics Day Hospital.
- Visit from a paediatric ophthalmology specialist. OCT.
- Joint multidisciplinary visit (specialists in Neuropaediatrics, Paediatric Oncology and Psychology).
- Assessment by a paediatric cardiologist and echocardiography.
- Imaging tests and assessment by a radiologist specialised in neuroimaging.
- Cutaneous ultrasound scan (assessment of neurofibromas and other subcutaneous lumps).
- Genetic counselling and genetic diagnosis of NF-1 and Legius syndrome.
- Psychological assessment of the patient and their families.