Functional Unit for Paediatric Genodermatosis

Funcional Units
Funcional Units
Functional Unit for Paediatric Genodermatosis

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
Dra. Susana Boronat (Paediatrics


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.


Services portfolio:

  • 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.