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Ehlers-Danlos syndrome

Alternative eponyms

  • Chernogubov's syndrome
  • Danlos’ syndrome
  • Meekeren-Ehlers-Danlos syndrome
  • Sack’s syndrome
  • Sack-Barabas syndrome
  • Van Meekeren’s syndrome I

Related people

An inherited disorder of the elastic connective tissue characterised by hypereleasticity of the skin, hypermobility of the joints due to extremely lax ligaments and tendons, poor wound healing, and cardiac defects.

Description

An inherited disorder of the elastic connective tissue characterised by hyperelasticity of the skin, hypermobility of the joints due to extremely lax ligaments and tendons, and poor wound healing. The skin bruises easily. There are subcutaneous tumours, visceral malformations atrophic scars, and calcified subcutaneous cysts.

Mitral valve prolapse is usual and congenital cardiac defects, e.g. atrial septal defect, are common. Described primarily in people of European ancestry. Both sexes affected (some authors report male prevalence); recognized from birth. Exists in 7 forms. Prematurity due to early rupture of fetal membranes is common. Inheritance corresponds to various pathochemical mechanisms in the disturbed collagen synthesis. The disorder is very heterogenous, most forms have an autosomal dominant inheritance but some are autosomal recessive or X-linked. It is believed to affect 1 in 5,000 people.

A syndrome with a history
As early as 400 BC Hippocrates noted that Nomads and Scythians were lax of joint and had multiple scars. The syndrome can also be diagnosed in the Spanish sailor George Albes who was infamous for being able to stretch the skin on his chest out to arm's length. Albes was presented by the Dutch surgeon, van Meekeren, to a group of senior physicians at the Academy of Leiden in 1657.

The first complete description of this condition was given by A. N. Chernogubow in 1892 when he presented two patients at the Moscow Dermatological and Venereologic Society. One of them was a seventeen years old boy who suffered from recurrent joint dislocations and cutaneous nodules, his skin was hyperextensible and fragile and he had multiple scars resulting from minor injuries. Chernogubov accurately diagnosed that the clinical manifestations were caused by an abnormality of the connective tissues. However, the article written by Chernogubov did not come to the notice of Western Europe at that time. The disorder still carries his eponym in Russia.

In 1899 Edvard Ehlers spoke at a clinical meeting of the Paris Society of Syphilology and Dermatology. The patient he presented was a 21 years old law student from the Island of Bornholm in the Baltic sea. This patient gave a history of late walking and frequent subluxations the knees. He had suffered many haematomata on minor trauma, with the formation of discoloured lesions on the elbows, knees, and knuckles. In addition, he had extensible skin and lax digits.

In 1908 Henri-Alexandre Danlos gave a presentation to the same Society. This boy had lesions on his elbows and knees and had been presented to the same Society 18 months previously by Danlos colleagues, François Henri Hallopeau (1842-1919) and Macé de Lépinay, with the diagnosis of juvenile pseudodiabetic xanthomata. At the presentation, Danlos disagreed with the original diagnosis and drew attention to extensibility and fragility of the patient's skin. He stated that the lesions over the bony prominences where posttraumatic 'pseudo tumors' in a patient with an inherent defect which he termed 'cutis laxa'.

In 1936, Frederick Parkes-Weber suggested that the disturbance should bed named Ehlers–Danlos syndrome.

We thank William Paaske, M.D., for correcting an error.

Bibliography

  • J. A. Van Meekeren:
    De dilatabilitate extraordinaria cutis.
    In: Observations Medico-Chirugicales. Chapter 32. Amsterdam, 1682.
  • N. A. Chernogubow:
    Über einen Fall von Cutis laxa. (Presentation at the first meeting of Moscow Dermatologic and Venerologic Society, Nov 13, 1891.)
    Monatshefte für praktische Dermatologie, Hamburg, 1892, 14: 76.
  • E. L. Ehlers:
    Cutis laxa. Neigung zu Haemorrhagien in der Haut, Lockering mehrerer Artikulationen.
    Dermatologische Zeitschrift, Berlin, 1901, 8: 173-174.
  • H. Danlos:
    Un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des genoux (xanthome juvénile pseudo-diabetique de MM Hallopeau et Macé de Lépinay).
    Bulletin de la Societé francaise de dermatologie et de syphiligraphie, Paris, 1908, 19: 70-72.
  • G. Sack:
    Status dysvascularis, ein Fall von besonderer Zeereislichkeit der Blutgefässe.
    Deutsches Archiv für klinische Medicin, Leipzig, 1935-1936, 178: 663-669.
  • A. P. Barabas:
    Heterogeneity of the Ehlers-Danlos syndrome: Description of three clinical types and a hypothesis to explain the basic defect(s).
    British Medical Journal, London, 1967, 2: 612-613.
We thank David Lawrance for correcting an error in our original entry.

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