Sneddon’s syndrome: a comprehensive review of the literature

Orphanet Journal of Rare Diseases

Hui Liang¹  Ziqi Xu¹  Shengjun Wu² 

[1] Department of Neurology, The First Affiliated Hospital, School of Medicine, ZheJiang University, qingchun road 79, Hangzhou310003ZheJiang, China;Department of cardiothoracic surgery, The First Affiliated Hospital, School of Medicine, ZheJiang University, ZheJiang, China

关键词: Systematic review;    Stroke;    Skin disease;    Sneddon’s syndrome;   

Others  :  1138529
DOI  :  10.1186/s13023-014-0215-4

 received in 2014-10-02, accepted in 2014-12-12,  发布年份 2014

【 摘 要 】

Sneddon’s syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa(LR). The Orpha number for SS is ORPHA820. It has been estimated that the incidence of SS is 4 per 1 million per annum in general population and generally occurs in women between the ages of 20 and 42 years. LR may precede the onset of stroke by years and the trunk and/or buttocks are involved in nearly all patients. The cerebrovascular manifestations are mostly secondary to ischemia (transient ischemic attacks and cerebral infarct). Other neurological symptoms range from headache, cerebral hemorrhage, seizures, cognitive and psychiatric disturbances. The involved internal organs include heart, kidney, and eyes. Histological findings of skin are characteristic and the involved vessels are small to medium-sized arteries at the border of dermis to subcutis with a distinct histopathological time course. The main diagnostic criteria are general LR with typical histopathological findings on skin biopsy and focal neurological deficits. The pathogenesis is related to hypercoagulable state and intrinsic small-vessel vasculopathy. The optimal management remains an unsolved problem and long-term anticoagulation have been recommended for cerebral ischemic events based on the presumed pathogenesis. There are controversial results in treatment of SS with immunomodulatory agents. The aim of this review is to comprehensively discuss this disease.

【 授权许可】

   
2014 Wu et al.; licensee BioMed Central.

【 图 表 】

Figure 1.

【 参考文献 】

• [1]Kimming J: Arteriolopathie:livedo rasemosa. Dermatol Wochenschr 1959, 139:211.
• [2]Champion RH, Rook A: Cutaneous arteriolitis. Proc R Soc Med 1960, 53:568.
• [3]Sneddon IB: Cerebrovascular lesions and livedo reticularis. Br J Dermatol 1965, 77:180-185.
• [4]Schellong SM, Weissenborn K, Niedermeyer J, Wollenhaupt J, Sosada M, Ehrenheim C, Lubach D: Classification of Sneddon’s syndrome. Vasa 1997, 26:215-221.
• [5]Francès C, Papo T, Wechsler B, Laporte JL, Biousse V, Piette JC: Sneddon syndrome with or without antiphospholipid antibodies. A comparative study in 46 patients. Medicine (Baltimore) 1999, 78:209-219.
• [6]Zelger B, Sepp N, Stockhammer G, Dosch E, Hilty E, Ofner D, Aichner F, Fritsch PO: Sneddon’s syndrome. A long-term follow-up of 21 patients. Arch Dermatol 1993, 129:437-447.
• [7]Berciano J: Sneddon syndrome: another mendelian etiology of stroke. Ann Neurol 1988, 24:586-587.
• [8]De Reuck J, De Reus R, De Koninck J: Sneddon’s syndrome. A not unusual cause of stroke in young women. In Cerebral Vascular Disease 6. Proceedings of the World Federation of Neurology 13th International Salzburg Conference: 25–27 September, 1986. Edited by Meyer JS, Lechner H, Reivich M, Ott EO. Excerpta Medica, Amsterdam; 1987:171-174.
• [9]Bolayir E, Yilmaz A, Kugu N, Erdogan H, Akyol M, Akyuz A: Sneddon’s syndrome: clinical and laboratory analysis of 10 cases. Acta Med Okayama 2004, 58:59-65.
• [10]Villaizán C, Ferrada MJ, Legarda I, Iriarte J, Narbona J, Martínez-Lage JM: Sneddon’s syndrome vasculopathy with antiphospholipid antibodies in a child. Neurologia 1995, 10:41-45.
• [11]Szmyrka-Kaczmarek M, Daikeler T, Benz D, Koetter I: Familial inflammatory Sneddon’s syndrome-case report and review of the literature. Clin Rheumatol 2005, 24:79-82.
• [12]Hademenos GJ, Alberts MJ, Awad I, Mayberg M, Shepard T, Jagoda A, Latchaw RE, Todd HW, Viste K, Starke R, Girgus MS, Marler J, Emr M, Hart N: Advances in the genetics of cerebrovascular disease and stroke. Neurology 2001, 56:997-1008.
• [13]Rebollo M, Val JF, Garijo F, Quintana F, Berciano J: Brain. Livedo reticularis and cerebrovascular lesions (Sneddon’s syndrome). Clinical, radiological and pathological features in eight cases. Brain 1983, 106:965-979.
• [14]Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, et al.: Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 2014, 370:911-920.
• [15]Bras J, Guerreiro R, Santo GC: Mutant ADA2 in vasculopathies. N Engl J Med 2014, 371:478-480.
• [16]Cavestro C, Richetta L, Pedemonte E, Asteggiano G: Sneddon’s syndrome presenting with severe disabling bilateral headache. J Headache Pain 2009, 10:211-213.
• [17]Killeen T, Wanke I, Mangiardi J, Cesnulis E: Ruptured, fusiform, distal lenticulostriate aneurysm causing intraventricular haemorrhage in a patient with antiphospholipid-negative Sneddon’s syndrome. Clin Neurol Neurosurg 2014, 116:80-82.
• [18]Marianetti M, Mina C, Marchione P, Giacomini P: Sneddon’s Syndrome presenting with topographic disorientation. J Clin Neurosci 2011, 18:980-981.
• [19]Schlez A, Lischka G, Schaumburg-Lever G, Ganten T, Jünger M: Raynaud symptoms as principal signs in a case of Sneddon’s syndrome. J Eur Acad Dermatol Venereol 2001, 15:365-366.
• [20]Heckmann JG, Lüfti M: Images in clinical medicine. Angiomatosis associated with Sneddon’s syndrome. N Engl J Med 2004, 350:e11.
• [21]Burton JL: Livedo reticularis, porcelain-white scars, and cerebral thromboses. Lancet 1988, 1:1263-1265.
• [22]Bruyn RP, van der Veen JP, Donker AJ, Valk J, Wolters EC: Sneddon’s syndrome. Case report and literature review. J Neurol Sci 1987, 79:243-253.
• [23]Copeman PW: Livedo reticularis:Signs in the skin of disturbance of blood viscosity and of blood flow. Br J Dermatol 1975, 93:519-529.
• [24]Marsch WC, Muckelmann R: Generalized racemose livedo with cerebrovascular lesions (Sneddon syndrome): an occlusive arteriolopathy due to proliferation and migration of medial smooth muscle cells. Br J Dermatol 1985, 112:703-708.
• [25]Boesch SM, Plörer AL, Auer AJ, Poewe W, Aichner FT, Felber SR, Sepp NT: The natural course of Sneddon syndrome: clinical and magnetic resonance imaging findings in a prospective six year observation study. J Neurol Neurosurg Psychiatry 2003, 74:542-544.
• [26]Tourbah A, Piette JC, Iba-Zizen MT, Lyon-Caen O, Godeau P, Francès C: The natural course of cerebral lesions in Sneddon syndrome. Arch Neurol 1997, 54:53-60.
• [27]Tietjen GE, Al-Qasmi MM, Shukairy MS: Livedo reticularis and migraine: a marker for stroke risk? Headache 2002, 42:352-355.
• [28]Tietjen GE, Gottwald L, Al-Qasmi MM, Gunda P, Khuder SA: Migraine is associated with livedo reticularis: a prospective study. Headache 2002, 42:263-267.
• [29]Tietjen GE, Al-Qasmi MM, Gunda P, Herial NA: Sneddon’s syndrome: another migraine-stroke association? Cephalalgia 2006, 26:225-232.
• [30]Adair JC, Digre KB, Swanda RM, Hartshorne MF, Lee RR, Constantino TM, Knoefel JE: Sneddon’s syndrome: cause of cognitive decline in young adults. Neuro Psychiatry Neuropsychol Behav Neurol 2001, 14:197-204.
• [31]Weissenborn K, Rückert N, Ehrenheim C, Schellong S, Goetz C, Lubach D: Neuropsychological deficits in patients with Sneddon’s syndrome. J Neurol 1996, 243:357-363.
• [32]Kalashnikova LA, Nasonov EL, Stoyanovich LZ, Kovalyov VU, Kosheleva NM, Reshetnyak TM: Sneddon’s syndrome and the primary antiphospholipid syndrome. Ter Arkh 1993, 65:64-70.
• [33]Kalashnikova LA, Aleksandrova EN, Novikov AA, Dobrynina LA, Nasonov EL, Sergeeva EV, Berkovskiĭ AL: Anti-phosphatidylethanolamine antibodies in patients with Sneddon’s syndrome. Klin Med (Mosk) 2005, 83:46-49.
• [34]Da Silva AM, Rocha N, Pinto M, Alves V, Farinha F, Correia AP, Coelho T, Magalhães M: Tremor as the first neurological manifestation of Sneddon’s syndrome. Mov Disord 2005, 20:248-251.
• [35]Kalashnikova LA, Nasonov EL, Borisenko VV, Usman VB, Prudnikova LZ, Kovaljov VU, Kushekbaeva AF: Sneddon’s syndrome: cardiac pathology and antiphospholipid antibodies. Clin Exp Rheumatol 1991, 9:357-361.
• [36]Scheuermann S, Schlundt C: STEMI of the anterior wall associated with Sneddon’s syndrome. Herz 2014, 39:352-353.
• [37]Pauranik A, Parwani S, Jain S: Simultaneous bilateral central retinal arterial occlusion in a patient with sneddon syndrome: case history. Angiology 1987, 38:158-163.
• [38]Aggermann T, Haas P, Binder S: Central retinal vein occlusion as a possible presenting manifestation of sneddon syndrome. J Neuroophthalmol 2007, 27:240-241.
• [39]Gobert A: Sneddons syndrome with bilateral peripheral retinal neovascularization. Bull Soc Belge Ophtalmol 1995, 255:85-90.
• [40]Narbay G: Sneddon’s syndrome in a patient with homonymous hemianopia with macular sparing. Bull Soc Belge Ophtalmol 1996, 263:103-107.
• [41]Rehany U, Kassif Y, Rumelt S: Sneddon’s syndrome: neuro-ophthalmologic manifestations in a possible autosomal recessive pattern. Neurology 1998, 51:1185-1187.
• [42]Song HB, Woo SJ, Jung CK, Lee YJ, Ahn J, Park KH, Kwon OK: Acute central retinal artery occlusion associated with livedoid vasculopathy: a variant of Sneddon’s syndrome. Korean J Ophthalmol 2013, 27:376-380.
• [43]Jiménez-Gallo D, Albarrán-Planelles C, Linares-Barrios M, González-Fernández JA, Espinosa-Rosso R, Báez-Perea JM: Sneddon syndrome presenting with unilateral third cranial nerve palsy. J Neuroophthalmol 2014, 34:50-52.
• [44]Francès C, Piette JC, Viard JP, Tourbah A: Anti-beta 2-glycoprotein I antibodies in Sneddon’s syndrome. Dermatology 1993, 186:273.
• [45]Kalashnikova LA, Nasonov EL, Kushekbaeva AE, Gracheva LA: Anticardiolipin antibodies in Sneddon’s syndrome. Neurology 1990, 40:464-467.
• [46]Quimby SR, Perry HO: Livedo reticularis and cerebrovascular accidents. J Am Acad Dermatol 1980, 3:377-383.
• [47]Baleva M, Chauchev A, Dikova C, Stamenov B, Nikoevski N, Tzankov N, Nikovov K: Sneddon’s syndrome: echocardiographic, neurological, and immunologic findings. Stroke 1995, 26:1303-1304.
• [48]Rumpl E, Rumpl H: Recurrent transient global amnesia in a case with cerebrovascular lesions and livedo reticularis (sneddon syndrome). J Neurol 1979, 221:127-131.
• [49]Sepp N, Zelger B, Schuler G, Romani N, Fritsch P: Sneddon’s syndrome—an inflammatory disorder of small arteries followed by smooth muscle proliferation. Immunohistochemical and ultrastructural evidence. Am J Surg Pathol 1995, 19:448-453.
• [50]Zelger B, Sepp N, Schmid KW, Hintner H, Klein G, Fritsch PO: Life history of cutaneous vascular lesions in Sneddon’s syndrome. Hum Pathol 1992, 23:668-675.
• [51]Wohlrab J, Fischer M, Wolter M, Marsch WC: Diagnostic impact and sensitivity of skin biopsies in Sneddon’s syndrome. A report of 15 cases. Br J Dermatol 2001, 145:285-288.
• [52]Geschwind DH, FitzPatrick M, Mischel PS, Cummings JL: Sneddon’s syndrome is a thrombotic vasculopathy: neuropathologic and neuroradiologic evidence. Neurology 1995, 45:557-560.
• [53]Muerza FM, González G, Ortiz E, Saracibar N: Cerebral hemorrhage in sneddon syndrome. Rev Neurol 1998, 27:74-76.
• [54]Pinol Aguade J, Ferrandiz C, Ferrer Roca O, Ingelmo M: Livedo reticularis y accidentes cerebrovasculares. Med Cutan Ibero Lat Am 1975, 3:257-265.
• [55]Hilton DA, Footitt D: Neuropathological findings in Sneddon’s syndrome. Neurology 2003, 60:1181-1182.
• [56]Boortz-Marx RL, Clark HB, Taylor S, Wesa KM, Anderson DC: Sneddon’s syndrome with granulomatous leptomeningeal infiltration. Stroke 1995, 26:492-495.
• [57]Köner O, Günay I, Cetin G, Celebi S: Mitral valve replacement in a patient with sneddon syndrome. J Cardiothorac Vasc Anesth 2005, 19:661-664.
• [58]Montalbán J, Ordi J, Barquinero J, Vilardell M: Sneddon’s syndrome and anticardiolipin antibodies. Stroke 1988, 19:785-786.
• [59]Rumpl E, Neuhofer J, Pallua A, Willeit J, Vogl G, Stampfel G, Platz T: Cerebrovascular lesions and livedo reticularis (Sneddon’s syndrome)–a progressive cerebrovascular disorder? J Neurol 1985, 231:324-330.
• [60]Sumi Y, Ozaki Y, Itoh S, Katayama H, Tanaka S: Cerebral blood flow-SPECT in a patient with Sneddon’s syndrome. Ann Nucl Med 1999, 13:109-112.
• [61]Sayin R, Bilgili SG, Karadag AS, Tombul T: Sneddon syndrome associated with protein S deficiency. Indian J Dermatol Venereol Leprol 2012, 78:407.
• [62]Ayoub N, Esposito G, Barete S, Soria C, Piette JC, Francès C: Protein Z deficiency in antiphospholipid-negative Sneddon’s syndrome. Stroke 2004, 35:1329-1332.
• [63]Asherson RA, Khamashta MA, Ordi-Ros J, Derksen RH, Machin SJ, Barquinero J, Outt HH, Harris EN, Vilardell-Torres M, Hughes GR: The “primary” antiphospholipid syndrome: major clinical and serological features. Medicine (Baltimore) 1989, 68:366-374.
• [64]Cirillo G, Tessitore A, Cirillo M, Salemi F, Liguori S, Esposito S, Tedeschi G: Livedo and ischemic strokes: diagnostic hints of a rare condition. Neurol Sci 2013, 34:2073-2075.
• [65]Llufriu S, Cervera A, Capurro S, Chamorro A: Familial Sneddon’s syndrome with microbleeds in MRI. J Neurol Neurosurg Psychiatry 2008, 79:962.
• [66]Moral A, Vidal JM, Moreau I, D’Olhaberriague L, Montalbán J: Sneddon’s syndrome with antiphospholipid antibodies and arteriopathy. Stroke 1991, 22:1327-1328.
• [67]Duval A, Darnige L, Glowacki F, Copin MC, Martin De Lassalle E, Delaporte E, Auxenfants E: Livedo, dementia, thrombocytopenia, and endotheliitis without antiphos- pholipid antibodies: seronegative antiphospholipid-like syndrome. J Am Acad Dermatol 2009, 61:1076-1078.
• [68]Stockhammer G, Felber SR, Zelger B, Sepp N, Birbamer GG, Fritsch PO, Aichner FT: Sneddon’s syndrome: diagnosis by skin biopsy and MRI in 17 patients. Stroke 1993, 24:685-690.
• [69]Koennecke HC: Cerebral microbleeds on MRI: prevalence, associations, and potential clinical implications. Neurology 2006, 66:165-171.
• [70]Ellie E, Julien J, Henry P, Vital C, Ferrer X: Divry-Van bogaert cortico-meningeal angiomatosis and Sneddon’s syndrome. Nosological study. Apropos of 4 cases. Rev Neurol (Paris) 1987, 143:798-805.
• [71]Antiphospholipid Antibodies in Stroke Study Group: Clinical and laboratory findings in patients with antiphospholipid antibodies and cerebral ischemia Stroke 1990, 21:1268-1273.
• [72]Antoine JC, Michel D, Garnier P, Absi L, Boucheron S, Barral FG, Laurent B: Sneddon syndrome: 9 cases. Rev Neurol (Paris) 1994, 150:435-443.
• [73]Hannon PM, Kuo SH, Strutt AM, York MK, Kass JS: Improvement of neuro- logical symptoms and memory and emotional status in a case of Seno- negative sneddon syndrome with cyclophosphamide. Clin Neurol Neurosurg 2010, 112:544-547.
• [74]Levine SR, Welch KM: The spectrum of neurologic disease associated with anti- phospholipid antibodies. Lupus anticoagulants and anticardiolip in antibodies. Arch Neurol 1987, 44:876-883.
• [75]Blom RJ: Sneddon syndrome: CT, arteriography, and MR imaging. Familial Sneddon’s syndrome: clinical, hematologic, and radiographic findings in two brothers. J Comput Assist Tomogr 1989, 13:119-122.
• [76]Pettee AD, Wasserman BA, Adams NL, McMullen W, Smith HR, Woods SL, Ratnoff OD: Familial Sneddon’s syndrome: clinical, hematologic, and radiographic findings in two brothers. Neurology 1994, 44:399-405.
• [77]Kraemer M, Baumgaertel MW, Berlit P: Miscarriage, peripheral thromboses and aortic aneurysm in antiphospholipid-antibody-negative Sneddon’s syndrome. J Neurol 2007, 254:1599-1600.
• [78]Alba MA, Espígol-Frigolé G, Prieto-González S, Tavera-Bahillo I, García-Martínez A, Butjosa M, Hernández-Rodríguez J, Cid MC: Central nervous system vasculitis: still more questions than answers. Curr Neuropharmacol 2011, 9:437-448.
• [79]Khamashta MA, Cuadrado MJ, Mujic F, Taub NA, Hunt BJ, Hughes GR: The management of thrombosis in the antiphospholipid-antibody syndrome. N Engl J Med 1995, 332:993-997.
• [80]Rosove MH, Brewer PM: Antiphospholipid thrombosis: clinical course after the first thrombotic event in 70 patients. Ann Intern Med 1992, 117:303-308.
• [81]Sun J, Zhang F, Gao F, Wang J, Selim M, Lou M: Intravenous thrombolysis in Sneddon’s syndrome. J Clin Neurosci 2012, 19:326-328.
• [82]Flöel A, Imai T, Lohmann H, Bethke F, Sunderkötter C, Droste DW: Therapy of Sneddon syndrome. Eur Neurol 2002, 48:126-132.
• [83]Akbal A, Kurtaran A, Selçuk B, Ersöz M, Akyüz M: A rarely seen syndrome in rehabilitation of hemiplegia: antiphospholipid antibody-negative Sneddon’s syndrome. Rheumatol Int 2010, 30:1489-1491.