Colon-nontumor – Ehlers-Danlos syndrome

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Colon-nontumor

Ehlers Danlos syndrome

Author: Nat Pernick, M.D, PathologyOutlines.com, Inc.

Revised: 12 December 2009

Last major update: December 2009

Definition

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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

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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.

Vascular type (type IV)

● Autosomal dominant; caused by a mutation in the 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 Week #163)

Treatment and prognosis

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● No specific treatment

● Preventative measures are recommended, and there may be a role for high dose Vitamin C.

Microscopic description

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● Often colonic perforation, with mucosal ulceration and thin bowel wall

● May have segmental absence of the muscularis propria, with replacement by cellular, reactive fibroblastic proliferation

Micro images

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9 year old boy with Type IV disease

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Additional references

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● Arch Pathol Lab Med 1993;117:989, J Clin Neuromuscular Dis 2009;11:81, Intern Med 2009;48:717

End of Colon-nontumor > Ehlers Danlos syndrome

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