Dyskeratosis Bullous Hereditary

Hereditary dyskeratosis bulbosa (HBD) is a rare genetic disease from the group of epidermolitus bullosa, manifested by the formation of blisters and erosions on the skin and mucous membranes. The disease manifests itself in early childhood and is autosomal inherited

Hereditary dyskeratosis bullosa: understanding, diagnosis and treatment

Introduction:
Hereditary dyskeratosis bullosa (dyskeratosis bullosa hereditaria) is a rare genetic disease characterized by damage to epithelial tissues, which leads to the formation of blisters and ulcers. This pathology affects various organs and systems, including skin, mucous membranes, nails and bones. In this article we will look at the main aspects of hereditary dyskeratosis bullosa, including its causes, symptoms, diagnosis and treatment options.

Causes:
Hereditary dyskeratosis bullosa is caused by a dysfunction of telomeres, which are structures at the ends of chromosomes and play an important role in maintaining genome stability. In this disease, mutations occur in the genes responsible for the synthesis or functioning of telomere components. Inheritance of dyskeratosis bullosa can be either autosomal dominant or autosomal recessive.

Symptoms:
The main clinical manifestations of hereditary bullous dyskeratosis are the formation of blisters and ulcers on the skin and mucous membranes. Patients experience increased susceptibility to injury, difficult nails, changes in the structure of teeth and gums, and possible damage to internal organs such as the lungs, digestive system, and kidneys. Symptoms may vary depending on the form and severity of the disease.

Diagnostics:
Diagnosis of hereditary dyskeratosis bullosa includes a clinical examination, medical and family history, and laboratory tests. A biopsy of the skin or mucous membranes may be performed to confirm the diagnosis. In addition, genetic testing plays an important role in identifying mutations associated with hereditary dyskeratosis bullosa.

Treatment:
At the moment, there is no specific treatment method aimed at completely curing hereditary dyskeratosis bullosa. Therapy is aimed at relieving symptoms and preventing complications. A comprehensive approach includes skin care, infection prevention, physiotherapy, rehabilitation and psychological support. In some cases, surgery may be required to remove diseased areas of skin or correct deformities.

Conclusion:
Hereditary dyskeratosis bullosa is a rare genetic disease that is characterized by damage to epithelial tissues and can have a negative impact on the quality of life of patients. Proper diagnosis and symptom management are key aspects of caring for patients with hereditary dyskeratosis bullosa. Further research and development of new therapeutic approaches may help improve the prognosis and quality of life of patients suffering from this rare genetic disease.