EDS ... A syndrome with a HISTORY. Other names for EDS

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Hi all, Just some Interesting reading. I do not know if you are on the EDS

yahoo group list. Caro.

Ehlers-Danlos syndromeAlso known as:

Chernogubov's syndrome

Danlos’ syndrome

Meekeren-Ehlers-Danlos syndrome

Sack’s syndrome

Sack-Barabas syndrome

Van Meekeren’s syndrome I

Synonyms:

Arthrocalasia multiplex congenita, cutis elastica syndrome, cutis

hypereleastica, cutis hyperelastica dermatorrhexis, cutis laxa, dermatorrhexis

with

dermatochalasis and arthrochalasis, dystrophia mesodermalis, dystrophia

mesodermalis congenita, cutis hyperelastic dermatorrhexis, elastic skin,

fibrodysplasia

elastica, fibrodysplasia elsatica generalisata, marfanoides

Hypermobilitäts-Syndrom (German), mal de Meleda, rubber man, rubber skin.

Associated persons:

<A HREF= " http://www.whonamedit.com/doctor.cfm/1801.html " >A. P. Barabas</A>

<A HREF= " http://www.whonamedit.com/doctor.cfm/1802.html " >Nikolai androvich

Chernogubow</A>

<A HREF= " http://www.whonamedit.com/doctor.cfm/1799.html " >Henri-andre

Danlos</A>

<A HREF= " http://www.whonamedit.com/doctor.cfm/1800.html " >Edvard Lauritz

Ehlers</A>

<A HREF= " http://www.whonamedit.com/doctor.cfm/1804.html " >Job Janszoon van

Meekeren</A>

<A HREF= " http://www.whonamedit.com/doctor.cfm/1803.html " >Georg Sack</A>

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 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 Gulf of Bosnia. 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-andre 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.

Bibliography:

J. A. Van Meekeren:

De dilatabilitate extraordinaria cutis.

In: Observations Medico-Chirugicales. Chapter 32. Amsterdam, 1682.

N. A. Chernogubow:

Ãœber 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 Lawrance for

correcting an error in our original entry.