Dyskeratosis Congenita
Congenital dyskeratosis is a rare hereditary disease characterized by skin pigmentation, nail dystrophy and leukoplakia. Due to disorders in the bone marrow, children develop anaemia and bleeding. The disease is characterized by the occurrence of a malignant tumour. When doctors have diagnosed this pathology, they begin immediate treatment.
The children’s doctor of the leading Israeli clinic Tel Aviv Medical Clinic deals with congenital pathologies of the hematopoietic system. with the help of the latest equipment, it is possible to detect the presence of the disease at the initial stage. We provide our patients with 24-hour care and control. Doctors of the clinic are highly qualified and have great practical experience. The wards of the department are equipped with everything necessary for a comfortable stay of mother and baby.
Symptoms of the disease
Unfortunately, the child cannot explain exactly what is bothering him. All responsibility for the health of the child lies with the parents. If you notice the following suspicious signs in your baby, you should immediately make an appointment with a doctor:
- Skin hyperpigmentation;
- Nail modification;
- Bleeding;
- Reduced immunity;
- General malaise;
- Underdevelopment;
- Presence of brown spots on the skin;
- Hair loss;
- Visual impairment;
- Development of dementia;
- Disturbance of GI organs.
A qualified specialist will conduct the necessary research and make an accurate diagnosis.
Diagnostics and treatment of the disease
It is easier to treat the detected pathology in time. To make the correct diagnosis, the doctor conducts an examination:
- Examination and collection of anamnesis;
- Blood test;
- Ultrasound;
- Skin examination;
- Puncture;
- Karyotyping and others.
The most effective method of combating the disease is bone marrow transplantation. Tel Aviv Medical Clinic doctors select the most appropriate donor. The disease is not amenable to drug cure. If malignant formations have appeared, the doctor removes them and conducts a course of chemotherapy. Our specialists use innovative effective methods of treating children. We set tariffs at the state level.
The clinic has a specialized centre to support parents and children. Our employees help contact charitable foundations to raise funds for treatment. Doctors help small patients who were recognized as terminally ill in other clinics in CIS countries.