Syndrome of Sneddon  

Sneddon's syndrome (Ehrmann-Sneddon syndrome) is a very rare condition, characterized by multiple cerebral infarctions at a relatively young age in combination with skin abnormalities (livedo racemosa, LR).

The condition develops over a longer period of time.
The disease can be seen in people with autoimmune disorders such as APS antiphospholipid syndrome or SLE, systemic lupus erythematosus.

Because the syndrome is very rare, the chance that someone will get this condition is 1 in a million people per year. Women are affected more often than men. The average age is between 20 and 40 years, but slightly older also occurs. The condition is even rarer around the age of 10 years.
The combination with the typical skin abnormalities was first described by J. Kimming in 1959.
Abnormalities of the blood vessels are seen caused by small clots, which are not caused by inflammation (Non-inflammatory thrombotic vasculopathy).

The skin lesions may occur years before the stroke or TIA on:

• trunk (84-89% of people)
• buttocks (68-74% of people)
  
• hands or feet (53-59% of people)
  
• face (15-16% of people)
  

 

View an image of the skin lesions, livedo racemosa, via this link.
The skin lesions have a reddish, patchy, irregular network-like pattern. Anyone who searches the internet on images of livedo racemosa will soon see that it is not an ordinary skin spot.

Some people with Sneddon's syndrome also have Raynaud's phenomenon, in which the blood supply to the hands or toes is temporarily obstructed.

Mottled purple-blue discolorations also occur on the skin. All of this points to small abnormalities in the smaller blood vessels.

 

Other possible symptoms preceding the skin conditions and cerebral infarctions are:

• headache
• epileptic seizures (fits)
• dizziness
• cognitive disorders that increase in severity
• sometimes psychiatric symptoms
• sometimes symptoms of kidneys, heart or peripheral nerves

 

There are stories of people who were wrongly diagnosed with 'dementia at a young age'. The previous small cerebral infarctions were apparently less noticeable and were therefore missed.

 

Prevention is the most important thing with this condition.

Check this website for good pictures of the skin condition in sneddon syndrome. 

As soon as abnormalities are seen on the skin, the dermatologist will be able to refer the patient to the internist or neurologist for preventive measures such as anticoagulant medication. Anticoagulation prevents the formation of clots that can cause a cerebral infarction in the brain.

There are people with Sneddon syndrome with similar symptoms as people with ADA2 deficiency (DADA2), but with Sneddon syndrome the disease starts earlier in life.