n South African Medical Journal - Ehlers-Danlos syndrome : how human genetics came to SA




The Ehlers-Danlos syndromes (EDSs) were originally described by Ehlers in Denmark and Danlos in Paris in 1898 and 1908, respectively. They had both published individual case studies in which the common factor was laxity of ligaments leading to joint hypermobility and hyperextensibility of the skin. The choice of the name of this eponymous disease had been made by Dr Parkes Weber, an eminent London physician in the 1930s, who had a penchant for eponymous diseases, having had no less than seven attributed to himself, at least in part. Unfortunately, this was before the age of a computerised literature search, and Parkes Weber had inadvertently overlooked the very first description of EDS which had been made by Tchernabogov, a Russian dermatologist, whose description was published in 1891 and remains one of the best descriptions of EDS in the literature.


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