Coordinating Centre for Children’s Rare Diseases together with Dermatovenerology Centre of Vilnius University Hospital Santariskiu Klinikos have prepared Epidermolysis bullosa diagnostics and treatment protocol. This protocol will facilitate patient care and acquisition of needed medicines and supplies for children affected with Epidermolysis bullosa.

 

Epidermolysis bullosa is a group of rare hereditary diseases, which manifest as a connective tissue defect. This defect causes blisters on one’s skin and mucosal membranes. There is no cure for this disease, so main focus is prevention of blisters.

 

Based on last year birth rates, there should be around 30 patients with Epidermolysis bullosa and on average 0,6 new cases per year in Lithuania. 5 – 6 of these patients might have very severe disease forms.

 

Epidermolysis bullosa is inherited in an autosomal dominant or autosomal recessive manner. Isolated cases might be determined by de novo (newly appearing) mutations.

 

From now on, it will be easier for patients with Epidermolysis bullosa to receive a greater part of needed medicines. Doctor dermatovenerologist will be able to prescribe Form 3 recipes following Procedure of compensated drugs prescription for treatment of rare diseases, signed by Lithuanian Republic Minister of Health on January 28, 2000 order Nr. 49 (Lithuanian Republic Minister of Health 12 March, 2015 order Nr. V-346 edit). If Form 3 recipe for compensated rare disease medicine is prescribed for a child, disabled person or a person with a disease from list A (treatment for which is fully reimbursed), reimbursement type in recipe should is coded “16” (code shows, what percentage of the medicine’s base price is reimbursed).

 

Patients will have a chance to receive a regular care of the multidisciplinary team, led by doctor dermatovenerologist.

 

Multidisciplinary team will consist of:

  • Doctor dermatovenerologist
  • Neonatologist / Pediatrician / Internal medicine doctor
  • Pathologist
  • Doctor geneticist
  • Otorhinolaryngologist
  • Ophtalmologist
  • Pediatric surgeon
  • Orthopedist – traumatologist
  • Plastic and reconstructive surgeon
  • Pediatric gastroenterologist
  • Odontologist
  • Anesthesiologist
  • Pediatric endocrinologist
  • Pediatric nephrologist
  • Pediatric neurologist
  • Radiologist
  • Pain treatment specialist
  • Pediatric cardiologist
  • Oncologist

If needed, other specialists will join the team as wel:

  • Dietologist
  • Psychologist
  • Dental hygienist
  • Pysiotherapist
  • Occupational therapist
  • Speech therapist
  • Social worker

 

Skin and soft tissues infection, chronic wounds, complications can be prevented, pain can be alleviated and patient’s quality of life can be improved by applying timely prophylaxis and appropriate wound dressing and blister treatment