Sneddon syndrome M30.82

Ehrmann, 1907; Champion and Allison, 1965; Sneddon, 1965

Non-inflammatory, potentially life-threatening, systemic, thrombotic vasculopathy that is characterized by the triad:

• a livedo racemosa
• cerebrovascular insults with neuropsychiatric abnormalities
• and labile arterial hypertension

marks.

Pathophysiologically, it is a thrombotic vasculopathy of small to medium-sized vessels at the cutis-subcutaneous junction, resulting in disturbed blood flow with skin lesions described as "lightning-figure-like"(livedo racemosa). Central necroses are rarer.

A special form of Sneddon syndrome is found in patients with detectable phospholipid antibodies. Here the clinical picture is to be interpreted as a variant of systemic lupus erythematosus, a so-called secondary Sneddon syndrome.

Incidence is 0.4/100,000;

Both autosomal dominant and autosomal recessive inheritance have been described. Risk factors are nicotine abuse, hypertension, hyperlipidemia, and use of hormonal anticonceptives. Pathogenetically, occlusion of small and medium-sized arterioles occurs.

In monogenic forms, mutations in the ADA2 gene located on chromosome 22q11 are detectable. The syndrome"vasculitis, autoinflammation, immunodeficiency and hematological defects", which is also caused by ADA2 mutations, occurs already in early childhood.

Mostly occurring in women between 27 and 45 years of age.

Trunk, buttocks, often combined with Raynaud's symptoms.

Pronounced livedo racemosa with lightning-figure-like vessel drawings of the skin. Frequently accompanying acrocyanosis, also Raynaud's symptoms.

Neurological symptoms: dizziness, transient ischemic attack (TIA), cerebral infarction, epilepsy.

Less common are heart, kidney and eye involvement.

The skin changes usually precede the systemic changes by years.

Antiphospholipid antibodies are detectable in more than 50% of patients. Thrombocytosis may be associated (see below thrombocyte)

Angiography of the vessels of the hand: Caliber variations and occlusions mainly of the digital arteries.

Cerebral angiography: Pathological caliber variations and occlusions of medium-sized and small intracranial vessels.

EEG: General changes and/or focal findings depending on the extent of cerebral circulatory abnormalities.

CT/MRI: evidence of infarcts, possibly cerebral atrophy.

• Acetylsalicylic acid (e.g. aspirin): 100 mg/day p.o. is prophylactically indicated.
• Coumarin preparations (e.g. Marcumar): Should be used for a period of at least 6 months in case of thrombosis.

• Remember! It is particularly important to stop smoking and to stop oral contraception in women!

• Immunosuppressive therapy is only indicated if antiphospholipid antibodies are detected. In this case, a combination of prednisone with azathioprine or cyclophosphamide (see below lupus erythematosus, systemic) is recommended.

In family members with skin manifestations such as livedo racemosa, acrocyanosis or Raynaud's phenomenon, attention should also be paid to cerebrovascular disorders.

It is not advisable to have children, as worsening symptoms are frequently observed.

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