Project Objectives
Implementation of a national computerized register of genodermatoses
Design and implementation of a database for storing the following information: clinical information, genealogy tree, paraclinic investigations, other information (numeric, text and images)
Design and implementation of a Web interface for population and query of the database
Gathering patient data
Design and implementation of additional modules for extracting statistical and epidemiological data, and for evaluation of the economic and social impact at national level
Creation of a center for diagnosis, treatment and prevention of epidermolysis bullosa
Acquisition of modern equipment for molecular diagnosis
Assembly of a team specialized in molecular diagnosis
Molecular diagnosis for the cases suspected of epidermolysis bullosa
- Probing of genetic material (blood and skin biopsy samples) from the patient and its family
- Performing the optical microscopy and direct imunofluorescence for excluding other cases of bullous dermatoses
- Performing indirect imunofluorescence for EB type differentiation
- Performing the DNA molecular analysis for identification of the genetic mutation
Establishing a multidisciplinary team, consisting of dermatologist, pediatrician, neonatologist, geneticist, gynecologist, psichologist, surgeon, stomatologist and family doctor, capable of answering to the patient’s needs.
Employing specialized treatment
- Medical (drug) treatment
- Surgical treatment for mutilation correction
- Instruction of the patient and of his family about lesion prevention
Periodical evaluation of the patient
- General evaluation
- Performing standard laboratory explorations
- Evaluation of the skin and associated lesions
- Evaluation of the nutritional status
Genetic advice
Affiliation to the international organizations
- Establishing of training exchange programs
- Cooperation in the fields of diagnosis and treatment