Abstract

The article presents a case of clinical observation of a patient with connective tissue dysplasia. This pathology, as a result of various genetic disorders, includes an extensive group of different systemic conditions, most of which have certain dermatological pathologies as the main or concomitant symptom. We describe the questions of etiology, clinic and diagnosis of connective tissue dysplasia. This clinical case is interesting to practicing dermatologists and cosmetologists in connection with the high appeal of this category of patients for aesthetic help.

Highlights

  • Summary The article presents a case of clinical observation of a patient with connective tissue dysplasia

  • We describe the questions of etiology, clinic and diagnosis of connective tissue dysplasia

  • This clinical case is interesting to practicing dermatologists and cosmetologists in connection with the high appeal of this category of patients for aesthetic help

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Summary

Introduction

Недифференцированная дисплазия соединительной ткани в дерматологической и косметологической практике (клинический случай) Undifferentiated connective tissue dysplasia in dermatological and cosmetological practice (clinical case) В основе формирования дисплазии соединительной ткани лежат наследуемые мутации генов, кодирующих синтез и пространственную организацию коллагена, структурных белков и белково-углеводных комплексов, а также мутации генов ферментов и кофакторов к ним.

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