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Heterogeneous group (six major types) of inherited
connective tissue disorders characterized by joint hyperlaxity, skin
hyperextensibility, and tissue fragility.
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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.
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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.
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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%).
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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.
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Depends on the type of EDS. Generally, collagen
synthesis is abnormal, resulting in reduced strength of the collagen in
numerous tissues.
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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.
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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, ...