SYNDROME MANIFESTATIONS OF CONNECTIVE TISSUE MALFORMATIONS

Abstract

The aim of the study – to study the little-known combination of phenotypic manifestations of dysplastic changes in connective tissue, which are not reflected in the classical structure of diagnostics of this pathology – subtotal alopecia areata, familial hypoplasia of tooth enamel, leukonychia, hygroma of the knee joints.

Materials and Methods. The outpatient and inpatient documentation of a 7-years-old girl D., who was undergoing examination at the municipal non-profit enterprise «Ternopil Regional Children’s Clinical Hospital» of the Ternopil Regional Council, was studied. Hypermobility of the joints (HMJ) was assessed according to the Beighton method. 5 consecutive tests of the joints of the limbs and spine were performed. The degree of HMJ was assessed in points: 1–2 points – the norm; 3–5 – moderate; 6–9 – pronounced. To diagnose the syndrome course of the disease, the Beighton method was used, taking into account various combinations of large and small clinical criteria in combination with HMJ. For the diagnosis of joint hypermobility syndrome (SHMJ), the presence of 2 major, or 1 major and 2 minor, or 4 small criteria is required.

Results and Discussion. In a girl D., 7 years old, alopecia began with a small focus of baldness on the back of the head, which gradually increased over 6 months, capturing almost the entire head, except for small areas near the ears, which is most consistent with subtotal alopecia areata. When bending the knee joints, densely elastic formations appeared on the anteroexternal surfaces of the joints with clear contours, without signs of inflammation, not painful 4×3 cm, – hygroma of the knee joints. Muscle tone is reduced, excessive mobility of the joints (little fingers, knee joints – moderate hypermobility of the joints). Flattening of thoracic kyphosis and lumbar lordosis is a straight back syndrome. The nail plates of both hands are covered with multiple small pinpoint depressions with a matte tint – leukonychia. During the examination of the oral cavity, white spots were found on the child’s front teeth – hypoplasia of tooth enamel.

Conclusion. A rare combination of joint hypermobility, subtotal alopecia areata, familial hypoplasia of tooth enamel, leukonychia, knee hygromas, indicates systemic connective tissue damage. The uniqueness of this case is that it showed that the classical clinical criteria for connective tissue dysplasia are limited and do not take into account other equally important clinical manifestations of joint hypermobility syndrome.