To be born with a genetic related disease is a problem for the child, the family, the relatives and the whole society. Moreover the future of the Bulgarian population is threatened by low birth rate. This requires the integration of the efforts of the whole medical community – particularly general practitioners, pediatricians etc. and the whole society for early diagnosis, prevention and treatment of rare genetic related disorders.
An unconditional success of our public health service was the establishment of five Genetic Centers years ago. Despite of such achievements as prenatal diagnosis and early prevention of Down and Phenylketonuric diseases, a great part of the inherited diseases which affect skin and its appendages /genodermatoses/ have been neglected so far by the medical services in our country. Unlike the above systemic hereditary diseases, which affect intellectual capacity of individuals in a lot of the cases of the most severe genodermatoses the patients have normal mentality and intellect. In cases of appropriate regimen of bringing up, education and treatment, patients with genetic skin disorders could be successfully socialized.
The most severe genodermatoses in Bulgaria are:
– Epidermolysis bullosa hereditaria
– Ichthyoses
– Morbus Darie
– Xeroderma pigmentosum
– Naevus pigmentosus giganteus
– Phacomatoses – Morbus Reklinghausen, Morbus Pringle-Burneville, Morbus Klippel-Trenaunay.
– Atopic Dermatitis
– Psoriasis vulgaris
Investigation of these diseases would contribute to:
– Specifying distribution the genodermatoses in our country
– Creation of informative materials referring to diagnosis, treatment and social care of patients with genodermatoses; informing the society and National Insurance Funds with there problems and requirements.
– Inclusion of the above mentioned medical and social tasks in educational programs for medical students, dentists, nurses etc.
– Integration the patients with one and the same disease, their relatives, friends and physicians in associations like these in the European countries and USA.
The attention of the society often is more important than financial assistance to the patients with genetic related skin disorders. More than 20 years our efforts are focused on researching of the most severe genodermatoses, which start in childhood, continue throughout patients’ lives and lead to suffering, marginalisation and disability. These disorders are not contagious. They have an autosomal-dominant or autososmal-recessive mode of inheritance. Early diagnosis, treatment and rehabilitation are of a great importance for the patients’ general condition and quality of life.
We appeal to whole medical community; general practitioners and all the Bulgarian citizens to support us in finding the patients with rare inherited skin diseases, by completing the Questionnaire below.
Registrations of families with children who have genetic related skin disorders would be help a following genetic research and would avoid the risk of future affected family members.
According to its intellectual and ethical properties the Medical Community must respond and help disabled people to live a more normal life.
We hope to receive cooperation from colleagues throughout the country.
Prof. Mariana Trashlieva
Chair of the Association Epidermolysis Bullosa – Bulgaria
Clinic of Dermatology
Multiprofile Hospital for Active Treatment at Medical University– Pleven
130 Dojran str., 5800 Pleven, Bulgaria
tel/fax: +359(64)82 21 27
e-mail:derma@mail.bg, ivelina_yordanova@abv.bg