Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Familial Sneddon's syndrome

  • 37 Accesses

  • 13 Citations

Abstract

We report the familial occurrence and apparent autosomal dominant inheritance of Sneddon's syndrome with variable clinical expression. The proband, a 40-year-old woman, presented with livedo reticularis and progressive neurological deterioration following a stroke. The diagnosis was confirmed by cerebral angiogram and skin biopsy, both showing the characteristic findings. Two of the patient's sisters were reported to have been similarly affected in the past. Her mother, two additional siblings and five of her seven children exhibited various vasospastic skin phenomena. Familial aggregation of this disorder may be common and a genetic basis may be involved in its pathogenesis.

This is a preview of subscription content, log in to check access.

References

  1. 1.

    Antoine JC, Michel D, Garnier P, Genin C (1994) Rheumatic heart disease and Sneddon's syndrome. Stroke 25:689–691

  2. 2.

    Baxter P, Gardner-Medwin D, Green SH, Moss C (1993) Congenital livedo retricularis and recurrent stroke-like episodes. Dev Med Child Neurol 35:917–926

  3. 3.

    Berciano J (1988) Sneddon's syndrome: another Mendelian etiology of stroke. Ann Neurol 24:586–587

  4. 4.

    Bias WB, Reveille JD, Beaty TH, Meyers DA, Arnett FC (1986) Evidence that autoimmunity in man is a Mendelian dominant trait. Am J Hum Genet 39:584–602

  5. 5.

    Clement DL (1993) Raynaud's phenomenon: history and definitions. In: Boccalon H (ed) Vascular medicine. Elsevier, Amsterdam, pp 537–539

  6. 6.

    Del Guidice SM, Nydorf ED (1986) Cutis marmorata telangiectatica congenita with multiple congenital anomalies. Arch Dermatol 122:1060–1061

  7. 7.

    Der Kaloustian VM (1993) Cutis marmorata. In: Stevenson RE, Hall JG, Goodman RM (eds) Human malformations and related anomalies, vol 2. Oxford University Press, New York, pp 988–990

  8. 8.

    Diez-Tejedor E, Lara M, Frank A, Plaza L, Barreiro P (1993) Sneddon's syndrome: value of antiphospholipid antibodies and cutaneus biopsy. Analysis of a series. Can J Neurol Sci 20 [Suppl 4]:52

  9. 9.

    Freeman R, Dover JS (1992) Autonomic neuro dermatology, part I. Erythromelalgia, reflex sympathetic dystrophy, and livedo reticularis. Semin Neurol 12:385–393

  10. 10.

    Golabi M, Ito M, Hall BD (1984) A new X-linked multiple congenital anomalies/mental retardation syndrome. Am J Med Genet 17:367–374

  11. 11.

    Hall BM, Walsh JC, Horvath JS, Lytton DG (1976) Peripheral neuropathy complicating primary hyperoxaluria. J Neurol Sci 29:343–349

  12. 12.

    Jackson L, Kline AD, Barr MA, Koch S (1993) de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 47:940–946

  13. 13.

    Kalashnikova LA, Nasonov EL, Kushekbaeva AE, Gracheva LA (1990) Anticardiolipin antibodies in Sneddon's syndrome. Neurology 40:464–467

  14. 14.

    Kaufmann S, Jones M, Culler FL, Jones KL (1986) Growth hormone deficiency in the Rothmund-Thompson syndrome. Am J Med Genet 23:861–868

  15. 15.

    Lousa M, Sastre JL, Cancelas JA, Gobernado JM, Pardo A (1994) Study of antiphospholipid antibodies in a patient with Sneddon's syndrome and her family. Stroke 25:1071–1074

  16. 16.

    Maddison PJ, Stephens C, Briggs D, Welsh KI, Harvey G, Whyte J, McHugh N, Black CM and UKSSSG (1993) Connective tissue disease and autoantibodies in the kindreds of 63 patients with systemic sclerosis. Medicine 72:103–112

  17. 17.

    Martinelli A, Martinelli P, Ippoliti M, Guiliani S, Coccagna G (1991) Sneddon's syndrome presenting with hemicranic attacks: a case report. Acta Neurol Scand 83:201–203

  18. 18.

    McKusick VA (1992) Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes, 10th ed. Johns Hopkins University Press, Baltimore

  19. 19.

    Michaeli J, Mitterman M, Grisaru D, Rachmilewitz EA (1992) Thromboembolic complications in beta thalassemia major. Acta Haematol 87:71–74

  20. 20.

    Pettee AD, Wasserman BA, Adams NL, McMullen W, Smith HR, Woods SL, Ratnoff OD (1994) Familial Sneddon's syndrome: clinical, hematologic, and radiographic findings in two brothers. Neurology 44:399–405

  21. 21.

    Podruch PE, Yen F-S, Dinno ND, Weisskopf B (1982) Yq- in a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation. J Med Genet 19:377–380

  22. 22.

    Rautenberg W, Hennerici M, Aulich A, Holzle E, Lakomek H-J (1988) Immunosuppressive therapy and Sneddon's syndrome. Lancet II:629–630

  23. 23.

    Rebollo M, Val JF, Garijo F, Quintana F, Berciano J (1983) Livedo reticularis and cerebrovascular lesions (Sneddon's syndrome). Clinical, radiological and pathological features in eight cases. Brain 106:965–979

  24. 24.

    Scott IA, Boyle RS (1986) Sneddon's syndrome. Aust NZ J Med 16:799–802

  25. 25.

    Small KW, Letsom R, Scheinman J (1990) Ocular findings in primary hyperoxaluria. Arch Ophthalmol 108:89–93

  26. 26.

    Vargas JA, Yebra M, Pascual ML, Manzano L, Durantez A (1989) Antiphospholipid antibodies and Sneddon's syndrome. Am J Med 87:597

  27. 27.

    Viljoen D, Saxe N, Pearn J, Beighton P (1987) The cutaneous manifestations of the Klippel-Trenaunay-Weber syndrome. Clin Exp Dermatol 12:12–17

  28. 28.

    Vonsattel J-PG, Hedley-White ET (1989) Diffuse meningocerebral angiomatosis and leucoencephalopathy. In: Toole JF (ed) Handbook of clinical neurology, vol 11 (55). Elsevier, Amsterdam, pp 317–323

  29. 29.

    Zelger B, Sepp N, Schmid KW, Hintner H, Klein G, Fritsch PO (1992) Life history of cutaneous vascular lesions in Sneddon's syndrome. Hum Pathol 23:668–675

  30. 30.

    Zelger B, Sepp N, Stockhammer G, Dosch E, Hilty E, Ofner D, Aichner F, Fritsch PO (1993) Sneddon's syndrome: a long-term follow-up of 21 patients. Arch Dermatol 129:437–447

Download references

Author information

Correspondence to Alexander Lossos.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Lossos, A., Ben-Hur, T., Ben-Nariah, Z. et al. Familial Sneddon's syndrome. J Neurol 242, 164–168 (1995). https://doi.org/10.1007/BF00936890

Download citation

Key words

  • Sneddon's syndrome
  • Livedo reticularis
  • Antiphospholipid antibodies
  • Genetic cerebrovascular disorder