General
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• Inherited heterogenous group of connective tissue disorders characterized by abnormal collagen synthesis (eMedicine, Wikipedia)
• Six variants of EDS have been described, based on clinical and molecular features (Am J Med Genet 1998;77:31)

Clinical features
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• Clinical symptoms vary by clinical variant, and include skin hyperextensibility and fragility / poor healing; joint hyperextensibility with a propensity to dislocation; eye symptoms with corneal rupture and retinal detachment; kyphoscoliosis and rupture of the colon and large arteries

• Autosomal dominant; caused by a mutation in COL3A1 gene (J Nippon Med Sch 2008;75:254)
• Three distinct types of mutations, which affect either the rate of synthesis, the secretion of type III procollagen or result in structurally abnormal type III collagen
• Associated with a reduced median survival of only 48 years
• Neonates have increased incidence of clubfoot and hip dislocation, and rarely have subarachnoid hemorrhage (Am J Clin Pathol 1990;93;579)
• In children, inguinal hernia, pneumothorax and recurrent joint dislocation or subluxation are common; skin is translucent with visible veins and is easily bruised; distinctive facial features are often present, including protruding eyes, a thin nose and lips, sunken cheeks and a small chin
• Blood vessels and intestines are typically rich in type III collagen, and adult patients often present with vascular rupture/dissection or gastrointestinal perforation
• Uterine rupture may occur during pregnancy, particularly at delivery

Case reports
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• 9 year old boy with type IV disease (Case of the Week #163)
• 17 year old boy with recurrent spontaneous pneumothoraces and cavitary lesion on chest X-ray (Intern Med 2009;48:717)
• Neuromuscular manifestations (J Clin Neuromuscul Dis 2009;11:81)

Treatment and prognosis
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• No specific treatment
• Preventative measures are recommended; some patients may improve with high dose Vitamin C

Micro description
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• Often colonic perforation, with mucosal ulceration and thin bowel wall
• May have segmental absence of muscularis propria, with replacement by cellular, reactive fibroblastic proliferation

Micro images
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Additional references
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• Arch Pathol Lab Med 1993;117:989

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