Ehlers-Danlos Syndrome Workup

Updated: Apr 12, 2019
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD  more...
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Workup

Imaging Studies

Calcification of small, deep, palpable, and movable nodules (often present in the subcutaneous tissue) can lead to opacity on radiographs. MRI study of the hypermobility type may document specific white matter lesions. [35]

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Other Tests

For type IV, a prenatal diagnosis by means of polymorphic restriction genetic studies is possible.

For type VI, measurements of lysyl hydroxylase (LH) in the amniotic fluid can be used to predict the outcome of pregnancy.

In one patient, the vascular type of Ehlers-Danlos syndrome (EDS) was associated with mild hemophilia A. [42]

One patient with Ehlers-Danlos syndrome type IV has been diagnosed with gastric adenocarcinoma.

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Histologic Findings

Histologic findings in skin biopsy specimens are variable and sometimes normal. Dermal collagen fibers are disorderly arranged, with a whorled appearance. Elastic fibers show irregularities in size and orientation.

Electron microscopy reveals defects in the striations of the collagen fibers, with large or small fibrils.

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