Who discovered Ehlers Danlos syndrome?

Ehlers-Danlos syndrome is a group of inherited connective tissue disorders characterized by irregular collagen production that affects the skin, ligaments, joints, blood vessels, and other organs.

The condition is named after Danish dermatologist Edvard Ehlers (1863–1937) and French dermatologist Henri Alexandre Danlos (1844–1912). Frederick Parkes Weber, an English physician, proposed the term “Ehlers-Danlos syndrome” in 1936.

History of EDS:

Hippocrates wrote in his book “Airs, Waters, and Places” in 400 BC that Nomads and Scythians had loose joints and numerous scars. This is believed to have been caused by cauterization, which had been used to stiffen up the joints.

Job Janszoon van Meek’ren, a Dutch physician, did not notice a Spanish ancestry boy with severe skin hyperextensibility until 1657. George Albes, the child, was a frequent visitor to the Academy of Leyland, where he demonstrated his skin’s remarkable abnormality. He could stretch his chin skin to meet his chest or cover his eyes, and the skin over his knees could be “pulled out to the length of half an ell.” This phenomenon, however, was curiously confined to his right side of the body.

Paganini (1782–1840), the world-renowned ‘Virtuoso in Excelsis,’ achieved unheard-of feats as a violinist; he had hypermobile joints, a slim body, thoracic deformity, and joint laxity, all of which are symptoms of EDS.

When Dr. Tschernogobow introduced two patients to the Moscow Venereology and Dermatology Society in 1892, he gave the first systematic explanation of a condition characterized by skin laxity and fragility as well as hypermobility of the large joints. The first patient was a 17-year-old epileptic boy who had skin fragility and hyperelasticity, and an inability to maintain sutures. He also had hypermobility and luxation of joints and molluscoid pseudotumors in the knees, elbows, and other regions.

Some EDS patients demonstrated hyperextensibility as performers in traveling shows with titles like “elastic lady” in the late 1800s.

Edvard Lauritz Ehlers (1863–1937), a Danish dermatologist, published descriptions of a patient with weak joints, hyperextensible skin, and bruising susceptibility in 1901. The further syndrome attention. The patient had a history of difficulty walking and repeated knee subluxations. This case was presented to the Danish Dermatological Society in 1899.

HenriAlexandre Danlos, a French physician (1844–1912), discovered another case of EDS. In 1908, Danlos reexamined a patient who had previously been diagnosed with ‘juvenile pseudodiabetic xanthoma’ by Hallopeau and de Lepinay. The patient had lesions on his elbows and knees when he arrived. Danlos, on the other hand, disagreed with this diagnosis, and a pathologist named Pautier (1908) aided Danlos with further investigations. He speculated that the skin lesions were vascular and inflammatory as a result of the trauma.

Isolated case studies of EDS appeared in the early twentieth century in response to these descriptions. The first case from the United States was mentioned by Tobias (1934). Mckusick (1956) compiled a monograph that included only about 100 studies. The overall number of reports had risen to 300 by the time his third edition was published in 1966. In England, Weber (1936) recorded six cases: a boy presented by Sir Malcolm Morris at the old dermatological society in London in 1900, though his diagnosis was inconclusive. In his original patients, Weber (1936) tried to define these symptoms, emphasizing skin hyperextensibility and fragility, as well as joint laxity, and the eponym Ehlers-Danlos syndrome was given to this disorder. Following a sizeable kindred investigation of 32 patients, Johnson and Falls (1949) concluded that EDS was most likely inherited as an autosomal dominant trait.

Pinnell found the first molecular defect when he discovered lysyl hydroxylase deficiency in an autosomal recessive type of Ehlers-Danlos syndrome. Patients were more susceptible to scoliosis and ocular globe rupture; it was reported that this was the first collagen disease.

EDS was first classified in the late 1960s, and in 1988, an international connective tissue nomenclature of nine subcategories was proposed. A simplified classification of EDS has been updated into six main types due to recent advances and expanded medical knowledge.

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