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Heterogeneous group (six major types) of inherited connective tissue disorders characterized by joint hyperlaxity, skin hyperextensibility, and tissue fragility.

Ehlers-Danlos Syndrome

Cutis laxa at the knee in a patient with Ehlers-Danlos syndrome.

Ehlers-Danlos Syndrome

Joint hyperlaxity in patient with Ehlers-Danlos syndrome. However, this finding can be demonstrated in 10 to 15% of normal people without Ehlers-Danlos syndrome.

Ehlers-Danlos Disease; Chernogubov Syndrome; Cutis Elastica; Danlos Syndrome; Meekeren-Ehlers-Danlos Syndrome; Van Meekeren Syndrome I; Sack Syndrome; Sack-Barabas Syndrome; Indian Rubber Man.

First described by the Dutch surgeon J.J. van Meekeren in 1668, when he described a young Spanish sailor man who was able to pull the skin of his chin up to the eyes and down to the chest. In 1892, the Russian dermatologist Nikolai A. Chernogubov described this syndrome in a 17-year-old boy, but this description went unnoticed in Western medicine. In 1899, Edvard L. Ehlers, a Danish dermatologist, presented a patient with this disorder at a meeting in Paris, France, before his findings were published in 1901. Seven years later, Henri A. Danlos, a French dermatologist, published his view of the syndrome. The Italian composer Niccolo Paganini (1782-1840) was one of the famous persons suffering from this disorder.

Incidence of EDS ranges from 1:150,000-300,000 and the prevalence ranges from 1:5000-10,000. The disorder affects males and females of all racial and ethnic backgrounds. EDS types I and III account for 90% of all cases (each approximately 30%).

The classic, hypermobility, vascular, and arthrochalasis types are autosomal dominant inherited, whereas the kyphoscoliosis and dermatosparaxis types are autosomal recessive transmitted. In a few cases, X-linked inheritance has been described.

Depends on the type of EDS. Generally, collagen synthesis is abnormal, resulting in reduced strength of the collagen in numerous tissues.

Prenatal diagnosis is possible by detection of abnormally low lysyl hydroxylase enzyme activity in cultured amniotic fluid cells. The soft, hyperextensible, velvety skin (so-called marshmallow skin), joint hypermobility, scoliosis, and ocular fragility (severe myopia), all features of Marfan Syndrome, are also features of EDS. Instability is a result of the marked joint laxity and leads to delayed motor development in affected children.

The clinical picture is highly variable and depends on the type of EDS. The skin is generally hyperelastic and hyperextensible (difficult to assess in neonates and infants) but most often is thin and highly vulnerable with a tendency to hematomas associated with already minor trauma. Patients often have impaired wound healing with inappropriate (either hypertrophic or atrophic) scarring, particularly affecting the most exposed body areas (knee, shin bone). The occurrence of knuckle pads on hands and feet, molluscoid pseudotumors from scars on elbows and knees, subcutaneous calcifications, spheroids (small, ...

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