Facial Raynaud's disease: case study

An unusual presentation of Raynaud's disease.

Reticular blanching rash on the cheek
Reticular blanching rash on the cheek

Case study: Unusual rash on the face

This 25-year-old woman presented with a rash on her cheek, present on waking and lasting a few hours, which had occurred on other occasions. She had a seven-year history of typical, triphasic appearance Raynaud’s disease affecting her hands, and previous chilblains of her toes, with general photosensitivity of the chest area in hot weather and while travelling abroad.

The patient had not previously sought medical advice regarding the Raynaud’s phenomenon, managing the symptoms herself with the use of gloves and avoiding sudden changes in temperature.

The rash on her cheek was a red, reticular blanching rash. In view of the unusual appearance, I organised blood tests to screen for underlying connective tissue disease, and referred her to rheumatology.

She subsequently underwent capillaroscopy examination at the Royal National Hospital for Rheumatic Diseases.

This was reported as typical for primary Raynaud’s, along with absence of other clinical findings, and negative for auto-antibodies, complement, renal function and lupus anticoagulant.

She was commenced on nifedipine, which greatly improved her hand symptoms.

Discussion

Patients with Raynaud’s phenomenon typically report intermittent triphasic changes in the colour of the extremities (fingers, toes, nose, cheeks and ears), usually triggered by cold exposure or emotional stress. They change from white (owing to vasoconstriction), to blue (tissue hypoxia), to red on rewarming (reperfusion).

This may last for minutes to hours and can be painful, particularly in the rewarming phase.

Patients with secondary Raynaud’s phenomenon are more likely to have severe disease, which may be associated with ulceration or gangrene of extremities, owing to structural changes in the vessel walls, with platelet activation, defective fibrinolysis, reduced red blood cell deformability and increased blood viscosity.

A symptom diary and photographs can help to establish the extent of the disease. Often, there is a family history in primary Raynaud’s disease, and onset is typically younger, at 15-25 years, more often in females.

Investigations

In 80-90% of patients with Raynaud’s phenomenon, there is no underlying cause established.

Investigations for secondary disease include:

  • FBC to look for anaemia and lymphopenia, suggesting an underlying autoimmune disease
  • Antinuclear antibodies
  • Extractable nuclear antibodies
  • Anti Scl-70 (topoisomerase I), anti-Ro (SSA) and anti-La (SSB)
  • Inflammatory markers, such as ESR and plasma viscosity

Unilateral signs should prompt a chest X-ray to exclude compression by a cervical rib.

The gold standard investigation is capillaroscopy, magnifying x200 to detect abnormalities in the vessel walls – capillaries in primary disease will have regular loops along the nail bed.

In secondary disease, the vessels will have a variety of changes, including architectural disorganisation, giant capillaries, haemorrhages, loss of capillaries, angiogenesis and avascular areas.

Treatment

Treatment of patients with primary Raynaud’s disease mostly involves lifestyle advice – avoidance of sudden changes in temperature, keeping warm in cold weather, smoking cessation and avoiding use of vibrating tools.

Nifedipine can reduce the frequency and severity of attacks, by inducing vasodilation. This is the only licensed medication. The longer-acting calcium-channel blockers amlodipine and diltiazem have also been used.

Other medications used to treat secondary disease include ARBs, prostaglandins, SSRIs, statins and aspirin. However, these are off licence and should be supervised by secondary care.

  • Dr Edrich is a GP in Weston-Super-Mare, Somerset

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Key learning points
  • Patients with Raynaud’s phenomenon typically report intermittent triphasic changes in the colour of the extremities from white (vasoconstriction), to blue (tissue hypoxia), then red (reperfusion)
  • This may last for minutes to hours and can be painful
  • Treatment of primary disease mostly involves lifestyle advice
  • Nifedipine can reduce the frequency and severity of attacks, by inducing vasodilation. This is the only licensed medication

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