Ehlers-Danlos Syndrome (EDS) refers to a group of inherited disorders that affect connective tissues throughout the body. These tissues provide support and structure to various organs, skin, bones, and blood vessels. The understanding of EDS has evolved over centuries, from early observations to its formal identification and classification.
Early Medical Descriptions
Long before Ehlers-Danlos Syndrome was formally named, its characteristic symptoms appeared in medical and historical accounts. Hippocrates, in 400 BC, described individuals with excessive joint mobility. In 1657, Dutch surgeon Job Janszoon van Meek’ren documented a patient with remarkably stretchy skin, a trait often observed in EDS. Even violinist Niccolò Paganini (late 18th and early 19th centuries) is believed to have had hypermobile joints, consistent with EDS features.
More detailed medical descriptions emerged in the late 19th century. In 1892, Russian dermatologist Dr. A. Tschernogubow presented two patients with fragile, hyperelastic, and easily bruised skin, along with joint hypermobility. These early observations highlighted the unusual physical characteristics now associated with the syndrome. However, they remained isolated reports, not yet linked under a unified medical condition.
The Contributions of Ehlers and Danlos
Formal recognition began in the early 20th century through the independent work of two European physicians. In 1901, Danish dermatologist Edvard Ehlers published a detailed case study of a patient with hypermobile joints, easily stretched skin, and a tendency to bruise easily. The patient also reported frequent knee subluxations and delayed walking.
In 1908, French physician Henri-Alexandre Danlos described similar observations, emphasizing skin hyperelasticity and small, fatty lumps (pseudotumors) under the skin. Though independent, their findings of joint laxity, skin extensibility, and tissue fragility were striking. Their combined contributions led English physician Frederick Parkes Weber to formally name the syndrome “Ehlers-Danlos Syndrome” in 1936.
Developing the Modern Understanding
Following Ehlers and Danlos’ descriptions, the understanding of the syndrome evolved significantly. In the late 1960s, a systematic classification of EDS subtypes began, influenced by Dr. Victor McKusick and Dr. Peter Beighton. This marked a shift from isolated case reports to a more structured medical framework.
Further advancements led to comprehensive diagnostic criteria. The Villefranche nosology (1998) categorized EDS into six major types, providing clearer diagnostic guidelines. The 2017 international classification expanded this understanding, recognizing 13 distinct EDS types. This latest classification also introduced Hypermobility Spectrum Disorders (HSD) to differentiate symptomatic joint hypermobility not meeting specific EDS criteria.