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Sneddon syndrome

Sneddon syndrome is an autosomal recessive disorder which is caused by mutations of the ADA2 gene. It is a noninflammatory arteriopathy with livedo reticularis. Onset is in the second decade and in adulthood it may be complicated by cerebrovascular disease.

Systematic

Systemic autoinflammatory disease
ADA2 deficiency
Cryopyrin-associated periodic syndrome
Mevalonate kinase-associated inflammatory diseases
NOD2-associated disease
Pyrin-associated autoinflammatory disease

References:

1.

Mascarenhas R et. al. () Familial Sneddon's syndrome.

2.

Bras J et. al. (2014) Mutant ADA2 in vasculopathies.

3.

Kalashnikova LA et. al. () Sneddon's syndrome: cardiac pathology and antiphospholipid antibodies.

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4.

None (1988) Sneddon syndrome: another mendelian etiology of stroke.

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5.

Scott IA et. al. (1986) Sneddon's syndrome.

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6.

Bruyn RP et. al. (1987) Sneddon's syndrome. Case report and literature review.

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7.

Rebollo M et. al. (1983) Livedo reticularis and cerebrovascular lesions (Sneddon's syndrome). Clinical, radiological and pathological features in eight cases.

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8.

Pettee AD et. al. (1994) Familial Sneddon's syndrome: clinical, hematologic, and radiographic findings in two brothers.

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9.

Zelger B et. al. (1993) Sneddon's syndrome. A long-term follow-up of 21 patients.

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10.

Hilton DA et. al. (2003) Neuropathological findings in Sneddon's syndrome.

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11.

None (1965) CEREBRO-VASCULAR LESIONS AND LIVEDO RETICULARIS.

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12.

Legierse CM et. al. () Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa.

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Update: Aug. 14, 2020
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