Familial Sneddon's syndrome.

A syndrome associating Livedo Reticularis (LR) with Cerebrovascular disease (CVD) was described, in 1965, by Sneddon. It occurs sporadically, but a few familial cases of Sneddon's Syndrome (SS) have been reported, like these 3 cases that represent one of the largest number among siblings. We studied three male brothers, aged 28, 37 and 42 years, with CVD (ischaemic stroke in 2 patients and cerebral haemorrhages in the third) and their sister with no CVD. All patients presented with long lasting Livedo Reticularis, extending beyond the lower limbs. Skin biopsy on the centre of the reticular pattern showed, only in the second patient, partial endothelium detachment in dermo-hypodermic blood vessels. The males also had accesses of Livedoid Vasculitis (LV), in which a skin biopsy showed obliteration of several upper dermal vessels with hialin thrombi and a very scarce inflammatory infiltrate. Complementary studies, with an extensive investigation on pro-coagulation/pro-thrombotic features including antiphospholipid antibodies, were repeatedly negative. Their non-consanguineous parents were not affected, but among these kindred of 9 individuals, apart from the 4 patients reported above, LR and LV were present in two other brothers and also in an aunt and uncle, suggesting autosomal dominant pattern of inheritance, with incomplete penetrance. The relationship between Sneddon's Syndrome and Antiphospholipid Antibody Syndrome is controversial. The present cases, having repeatedly negative antiphospholipid antibodies, support the classification of Sneddon's Syndrome as an independent nosological entity.

[1]  M. Gomori,et al.  Familial Sneddon's syndrome , 1995, Journal of Neurology.

[2]  J. Willeit,et al.  Cerebrovascular lesions and livedo reticularis (Sneddon's syndrome) — a progressive cerebrovascular disorder? , 2004, Journal of Neurology.

[3]  W. Stolz,et al.  Sneddon’s syndrome in a child , 2000, The British journal of dermatology.

[4]  M. Rich.  Sneddon syndrome and dementia. , 1999, Mayo Clinic proceedings.

[5]  A. Korczyn,et al.  Antibodies to prothrombin in patients with Sneddon’s syndrome , 1999, Neurology.

[6]  J. Piette,et al.  Sneddon syndrome with or without antiphospholipid antibodies. A comparative study in 46 patients. , 1999, Medicine.

[7]  L. Khoo,et al.  Superior mesenteric artery stenting for mesenteric ischaemia in Sneddon's syndrome. , 1999, The British journal of radiology.

[8]  N. Tsankov,et al.  Livedo reticularis and cerebrovascular accidents (Sneddon's syndrome) as a clinical expression of antiphospholipid syndrome , 1999, Journal of the European Academy of Dermatology and Venereology : JEADV.

[9]  E. Kokmen,et al.  Gradually progressive dementia without discrete cerebrovascular events in a patient with Sneddon's syndrome. , 1999, Mayo Clinic proceedings.

[10]  U. Rehany,et al.  Sneddon's syndrome: Neuro-ophthalmologic manifestations in a possible autosomal recessive pattern , 1998, Neurology.

[11]  N. Saracíbar,et al.  [Cerebral hemorrhage in Sneddon syndrome]. , 1998, Revista de neurologia.

[12]  M. Pittelkow,et al.  Antiphospholipid syndrome and the skin. , 1997, Journal of the American Academy of Dermatology.

[13]  J. Piette,et al.  The natural course of cerebral lesions in Sneddon syndrome. , 1997, Archives of neurology.

[14]  I. Felipe,et al.  Síndromes neurocutáneos con afectación vascular , 1997 .

[15]  M. Campos,et al.  Sneddon's syndrome: a vascular systemic disease with kidney involvement? , 1997, Nephron.

[16]  J. Piette,et al.  Annular atrophic lichen planus and Sneddon's syndrome. , 1997, Dermatology.

[17]  S. Dupont,et al.  Warfarin in Sneddon's syndrome , 1996, Neurology.

[18]  J. Piette,et al.  Prevalence of anti-endothelial cell antibodies in patients with Sneddon's syndrome. , 1995, Journal of the American Academy of Dermatology.

[19]  Nilzio Antônio da Silva,et al.  Síndrome de Sneddon relato de três casos , 1995 .

[20]  D. Geschwind,et al.  Sneddon's Syndrome Is a Thrombotic Vasculopathy , 1995, Neurology.

[21]  A. D. Pettee,et al.  Familial Sneddon's syndrome , 1994, Neurology.

[22]  Briant Jf,et al.  Accidents vasculaires cérébraux ischémiques du sujet jeune et livedo réticulaire. A propos d'un cas de syndrome de Sneddon ou de Divry-Van Bogaert. , 1994 .

[23]  D. Ofner,et al.  Sneddon's Syndrome: A Long-term Follow-up of 21 Patients , 1993 .

[24]  E. Nasonov,et al.  [Sneddon's syndrome and the primary antiphospholipid syndrome]. , 1993, Terapevticheskii arkhiv.

[25]  P. Scheltens,et al.  Intracerebral haemorrhage in Sneddon's syndrome , 1992, Journal of the Neurological Sciences.

[26]  K. Schmid,et al.  Life history of cutaneous vascular lesions in Sneddon's syndrome. , 1992, Human pathology.

[27]  P. Manganelli,et al.  Sneddon's syndrome and primary antiphospholipid syndrome: a case report. , 1992, Journal of the American Academy of Dermatology.

[28]  Borisenko Vv,et al.  Sneddon's syndrome: cardiac pathology and antiphospholipid antibodies. , 1991 .

[29]  E. Nasonov,et al.  Anticardiolipin antibodies in Sneddon's syndrome , 1990, Neurology.

[30]  R. Winkelmann,et al.  Cutaneous Thrombosis, Cerebrovascular Thrombosis, and Lupus Anticoagulant—the Sneddon Syndrome , 1990, International journal of dermatology.

[31]  J. Vargas,et al.  Antiphospholipid antibodies and Sneddon's syndrome. , 1989, The American journal of medicine.

[32]  J. Berciano.  Sneddon syndrome: Another mendelian etiology of stroke , 1988, Annals of neurology.

[33]  I. Scott,et al.  Sneddon's syndrome. , 1986, Australian and New Zealand journal of medicine.

[34]  J. Berciano,et al.  Livedo reticularis and cerebrovascular lesions (Sneddon's syndrome). Clinical, radiological and pathological features in eight cases. , 1983, Brain : a journal of neurology.