FAMILIAL FORM OF WRINKLED TONGUE, SPOTTED HYPOPLASIA OF TOOTH ENAMEL, AND JOINT HYPERMOBILITY

Abstract

In recent years, there has been a tendency to increase the number of congenital, hereditary, and hereditary pathology, which is due to adverse factors of the external and internal environment. Practitioners faced the difficult task of recognizing the main signs of hereditary pathology in a timely manner, which, as a rule, have a syndromic nature of the course of the disease. Only a comprehensive and thorough examination will help to recognize and treat these diseases in a timely manner. The study of extremely rare diseases, including wrinkled tongue, is of great interest among scientists. Each observation of this condition is of great importance in terms of improving the diagnosis, treatment, and prevention of possible complications. The aim. To familiarise practicing doctors with the results of our own observations of a combination of extremely rare conditions – wrinkled tongue, joint hypermobility, and spotted enamel hypoplasia against a background of numerous somatic diseases – with a view to early diagnosis, treatment, and prevention of possible complications. Materials and Methods. Outpatient and inpatient documentation of children and mothers was carefully studied. Joint mobility was assessed according to the Beighton criterion. The condition of the spine was assessed by examination from the front and side, and the Adams test was performed. The condition of the feet was clinically assessed, including the height of the longitudinal and transverse arch. X-ray examination and ultrasound are standard equipment. The condition of tooth enamel was assessed, including color and structure (the presence of spots, grooves, wavy depressions, erosion, and chips and cracks). The sensitivity of the teeth to cold, hot and sweet was checked. The condition of the tongue was assessed according to the following criteria: 1. Color. 2. Plaque. 3. Dry or moist tongue. 4. Spots. 5. Cracks. 6. Swelling of the tongue or tooth impressions. 7. The presence of ulcers, blisters, and wounds. Results. The familial form of wrinkled tongue, spotted hypoplasia of tooth enamel, and joint hypermobility in a mother and her two sons, aged 13 and 15, has been described. A 15-year-old boy, A., was diagnosed with joint hypermobility syndrome. Bilateral flat feet. Scheuermann-Mau disease. S-shaped dysplastic scoliosis of the II stage. Malformation of the anterior wall of the chest. Wrinkled tongue Family, spotted, focal, mild form of hypoplasia of the enamel of the incisors. Malocclusion. Phimosis (condition after surgery). Hypothalamic syndrome of puberty. Heart malformation – Clerk-Levi-Cristesco syndrome (CLC syndrome). Multiple stigmas of dysembiogenesis. Boy D., 13 years old, was diagnosed with joint hypermobility syndrome. S-shaped dysplastic scoliosis of the first stage. Malformation of the anterior wall of the chest. Wrinkled tongue. Myopia of a high degree of complexity. Myopic astigmatism of both eyes. Accommodation disorders. Family, spotted, focal, mild form of hypoplasia of the enamel of the incisors. Malocclusion. Heart malformation - Clerk-Levi-Cristesco syndrome (CLC syndrome). Phimosis (condition after surgery). Dysfunction of the gallbladder of the hypertensive type. Dyspancreatism. The mother of N., 34 years old, was found to have mild joint hypermobility. Wrinkled tongue. Severe hypoplasia of the enamel of the incisors during treatment (prosthetics). Conclusions. A wrinkled tongue is of great diagnostic significance, as it can be an early marker of hereditary connective tissue dysfunction, with a clear age-related progression of intensity. In this case, the characteristic condition of the tongue was combined with joint hypermobility syndrome, familial spotted enamel hypoplasia, malocclusion, and phimosis in sons. The combination of a wrinkled tongue, spotted enamel hypoplasia, and joint hypermobility forms a pathognomonic combination that suggests systemic connective tissue diseases. The prognostic significance remains an important aspect, since recognizing familial forms allows for the implementation of preventive measures (orthodontic correction, physiotherapy, genetic counseling), preventing the progression of orthopedic and other complications.