Ортопедичні прояви дегенеративного меланозу (Клінічний випадок)

Bloch-Sulzberger syndrome is a rare hereditary disease caused by a mutation in the IKBKG/NEMO gene linked to the X chromosome. The disease manifests itself in the form of mottled skin pigmentation and can be accompanied by congenital deformities, including clubfoot. This hereditary disease is transmitted by the dominant type of inheritance and is usually observed in girls. In men, it is less common due to the lethality of the mutation for the male fetus. In some cases, the syndrome may be accompanied by congenital deformities such as clubfoot. Although Bloch-Sulzberger syndrome is a rare disease, research into its molecular mechanisms and the development of new treatments may help improve the prognosis for patients. The aim of the study was to review a clinical case of Bloch-Sulzberger syndrome in a child and to evaluate the results of surgical intervention. The diagnosis of a child with this syndrome confirmed the presence of characteristic signs: variegated skin pigmentation, congenital deformities of the foot and other anomalies. Surgical correction of the deformities using the Zatsepin method was applied, which helped to restore the correct position of the foot and improve the patient's quality of life. Research into the molecular mechanisms of the syndrome may contribute to a better understanding of the pathogenesis and the development of new treatments and prevention methods. Clinical trials of new medications and surgical techniques are important to improve patient care and assess their efficacy and safety in the long term. Long-term follow-up of patients with this syndrome will help identify risks and complications arising from the pathology and develop strategies for their prevention and management. The development of additional diagnostic and treatment methods, as well as further research into this rare pathology, has great potential to improve the prognosis of patients and reduce the impact of the disease on their lives. [ABSTRACT FROM AUTHOR]