Ann Dermatol.  2012 May;24(2):214-217.

Erythromelalgia and Livedo Reticularis in a Patient with Essential Thrombocythemia, Acquired von Willebrand Disease, and Elevated Anti-Phospholipid Antibodies

• Gambichler T
• Matip R

Abstract

Essential thrombocythemia (ET) is a clonal stem cell disease characterized by isolated thrombocytosis and thrombohemorrhagic complications. We describe an unusual case of ET primarly presenting with skin symptoms including erythromelalgia and livedo reticularis (racemosa-type). Persistent thrombocytosis, bone marrow findings, JAK2 gene mutation, and markedly decreased ristocetin-cofactor activity were consistent with the diagnosis of ET and acquired von Willebrand disease. Elevated antiphospholipid antibodies were also found. The present case highlights the complex nature and diagnostic challenge of myeloproliferative disorders such as ET, which can involve multiple organ systems and often shows a variety of microvascular complications, coagulation anomalies, and autoimmune phenomena.

Keyword

Erythromelalgia; Essential thrombocythemia; Livedo reticularis; von Willebrand disease

MeSH Terms

Antibodies
Antibodies, Antiphospholipid
Bone Marrow
Erythromelalgia
Humans
Livedo Reticularis
Myeloproliferative Disorders
Skin
Stem Cells
Thrombocythemia, Essential
Thrombocytosis
von Willebrand Diseases
Antibodies
Antibodies, Antiphospholipid

Figure

• 

  Fig. 1 Erythromelalgia under the right foot of a patient with essential thrombocythemia.

• 

  Fig. 2 Appearance of the right lumbal region of a patient with essential thrombocythemia and livedo reticularis including reticulated purplish-blue patches, in part, with broken circular segments (The arrowhead indicates the biopsy site).

• 

  Fig. 3 Appearance of a portion of hyalinized dermal blood vessels with a perivascular, moderately inflammatory, mainly lymphocytic infiltrate. In particular, the vessels of the deep dermis are hyalinized and occluded by intravascular thrombosis (Hematoxylin-eosin stain, ×200 magnification).

Reference

1. Brière JB. Essential thrombocythemia. Orphanet J Rare Dis. 2007. 2:3.

2. Tefferi A, Vainchenker W. Myeloproliferative neoplasms: molecular pathophysiology, essential clinical understanding, and treatment strategies. J Clin Oncol. 2011. 29:573–582.

3. Wolanskyj AP, Schwager SM, McClure RF, Larson DR, Tefferi A. Essential thrombocythemia beyond the first decade: life expectancy, long-term complication rates, and prognostic factors. Mayo Clin Proc. 2006. 81:159–166.

4. Buggiani G, Krysenka A, Grazzini M, Vašků V, Hercogová J, Lotti T. Paraneoplastic vasculitis and paraneoplastic vascular syndromes. Dermatol Ther. 2010. 23:597–605.

5. Tarach JS, Nowicka-Tarach BM, Matuszek B, Nowakowski A. Erythromelalgia--a thrombotic complication in chronic myeloproliferative disorders. Med Sci Monit. 2000. 6:204–208.

6. Bauerschmitz J, Knop J. Cutaneous manifestations of essential thrombocythemia. Erythromelalgia, ischemic acrocyanosis, livedo racemosa. Hautarzt. 1995. 46:477–480.

7. Uthman IW, Khamashta MA. Livedo racemosa: a striking dermatological sign for the antiphospholipid syndrome. J Rheumatol. 2006. 33:2379–2382.

8. Finazzi G. Essential thrombocythemia. Cancer Treat Res. 2008. 142:51–68.

9. Wieczorek I, MacGregor IR, Ludlam CA. Low proteins C and S and activation of fibrinolysis in treated essential thrombocythemia. Am J Hematol. 1995. 49:277–281.

10. Harrison CN, Donohoe S, Carr P, Dave M, Mackie I, Machin SJ. Patients with essential thrombocythaemia have an increased prevalence of antiphospholipid antibodies which may be associated with thrombosis. Thromb Haemost. 2002. 87:802–807.

11. Wandl UB, Nagel-Hiemke M, May D, Kreuzfelder E, Kloke O, Kranzhoff M, et al. Lupus-like autoimmune disease induced by interferon therapy for myeloproliferative disorders. Clin Immunol Immunopathol. 1992. 65:70–74.

12. Kumar S, Pruthi RK, Nichols WL. Acquired von Willebrand disease. Mayo Clin Proc. 2002. 77:181–187.