EDS, Ehlers-Danlos-Meekeren syndrome, Van-Meekeren syndrome, fibrodysplasia elastica generalisata, dermatolysis, cutis hyperelastica, “rubber skin”, among others Franz. Laxité articulaire congénitale multipleEngl: Danlos’ syndrome, Meekeren-Ehlers-Danlos syndrome, Chernogubov’s syndrome, Sack’s syndrome, Sack-Barabas syndrome, Van Meekeren’s syndrome IRussian: Chernogubov syndrome
Definition/Introduction
Ehlers-Danlos Syndrome (EDS) is a group of heterogeneous, genetic connective tissue diseases caused by disorders in the synthesis of collagen, a structural protein of connective tissue, and showing characteristic symptoms on the skin, joints and internal organs.
Frequency
The Ehlers-Danlos syndrome is rare. The prevalence in the total population is 1:5000; among them 90% are affected by types I, II and III (30% each), and about 10% by type IV. The other forms are rarely observed.
Types I-III are inherited autosomal-dominantly, i.e. only one defective gene must be present for the disease to break out. The other types are inherited autosomal-recessively, i.e. two defective genes must be present, or X-chromosomally, i.e. transmission via a sex chromosome.
History
The Ehlers-Danlos syndrome was first described in 1668 by Job Janszoon von Meekeren (1611-1666), a surgeon from Amsterdam. He had discovered the symptom of abnormal overstretch in a Spaniard who could pull his chin skin up to the eyes and across the chest. However, he did not observe any other abnormalities.
It was not until 1891 that the dermatologist Chernogubov prepared a complete description of the clinical picture including the involvement of joints and vessels, which is why the term “Chernogubov syndrome” is still common in Russian medical literature today. Further descriptions followed in 1901 by the Danish dermatologist Eduard Ehlers (1863-1937) and in 1908 by the Parisian dermatologist Henri A. Danlos (1844-1912). It was not until 1933 that “Ehlers-Danlos Syndrome” was able to establish itself as the name of the disease. In 1949 the first findings about the familial accumulation of the disease were made and in 1972 a connection between genetic defects and Ehlers-Danlos syndrome was discovered. In 1986 a preliminary classification into 10 types was established, which was changed into a simplified version in 1997 with the subdivision into six main types.
