Ehlers–Danlos syndrome

Published on 05/05/2015 by admin

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Last modified 05/05/2015

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133 Ehlers–Danlos syndrome

Instruction

Do a general examination.

Examine this patient’s joints.

Salient features

History

• Family history (JAMA 1997;278:1284–5)

• Hypermobile joints (Fig. 133.1)

• Fragile skin with impaired wound healing

• Bleeding diathesis.

image

Fig. 133.1 Manoeuvres that may establish clinically significant joint laxity.

Examination

Skin

• The skin over the neck, axillae and groin is smooth and elastic (Fig. 133.2). It can be stretched and, when released, it returns immediately to its normal position. Late in the disease it becomes lax, wrinkled and hangs in folds.

image

Fig. 133.2 The skin over the neck, axillae and groin is smooth and elastic; it can be stretched and, when released, it returns immediately to its normal position. Late in the disease it becomes lax, wrinkled and hangs in folds.

Proceed as follows:

• Look at bony prominences for bruising, haematomas and gaping wounds. Wounds heal forming tissue-paper or papyraceous or ‘cigarette-paper’ scars. Haematomas heal forming pseudotumours or nodules.

Joints

• Kyphoscoliosis

• Hypermobile joints (Fig. 133.3).

image

Fig. 133.3 Hypermobile joints.

Proceed as follows:

• Tell the examiner that you would like to examine the following:

• The hernial orifices
• The heart for mitral valve prolapse and aortic regurgitation
• The eyes for myopia, retinal detachment.

Note: The three basic clinical criteria are: fragile skin, bleeding diathesis and hypermobile joints.

Diagnosis

This patient has hypermobile joints (lesion) caused by Ehlers–Danlos syndrome (aetiology).

Advanced-level questions

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