Atypical scleromyxedema with prominent nodular lesions associated with immune thrombocytopenia: An unusual presentation
Authors: Ingrid Lopez-Lerma, Andreu Fernandez-Codina, Helena Hilari, Berta Ferrer, Albert Selva-O'Callaghan, Vicente Garcia-Patos
Journal: Journal of the American Academy of Dermatology (2014)

To the Editor: Scleromyxedema (SM) is a rare cutaneous mucinosis that usually occurs with monoclonal gammopathy (>83.2%), predominantly an IgG lambda subtype.1Rongioletti F. Rebora A. Updated classification of papular mucinosis, lichen myxedematosus, and scleromyxedema.J Am Acad Dermatol. 2001; 44: 273-278Abstract Full Text Full Text PDF PubMed Scopus (349) Google Scholar, 2Rongioletti F. Merlo G. Cinotti E. Fausti V. Cozzani E. Cribier B. et al.Scleromyxedema: a multicenter study of characteristics, comorbidities, course, and therapy in 30 patients.J Am Acad Dermatol. 2013; 69: 66-72Abstract Full Text Full Text PDF PubMed Scopus (111) Google Scholar SM may show a great variety of extracutaneous manifestations (gastrointestinal, musculoskeletal, neurologic, pulmonary, cardiac, and renal involvement) leading to significant morbidity and mortality.1Rongioletti F. Rebora A. Updated classification of papular mucinosis, lichen myxedematosus, and scleromyxedema.J Am Acad Dermatol. 2001; 44: 273-278Abstract Full Text Full Text PDF PubMed Scopus (349) Google Scholar, 2Rongioletti F. Merlo G. Cinotti E. Fausti V. Cozzani E. Cribier B. et al.Scleromyxedema: a multicenter study of characteristics, comorbidities, course, and therapy in 30 patients.J Am Acad Dermatol. 2013; 69: 66-72Abstract Full Text Full Text PDF PubMed Scopus (111) Google Scholar We report a case of SM with prominent scalp involvement, presence of nodular lesions, and immune thrombocytopenia. A 69-year-old woman presented with a 2-week history of facial edema and progressive eruption. The patient also reported severe scalp pruritus and increased hair loss. On physical examination, skin-colored firm papules, nodules, and edema of the face and both hands were observed. The papules were initially located on the scalp, neck, and back of the auricular area, then gradually involved upper aspect of the trunk and the surrounding skin showed scleroderma-like induration in these areas. Several nodules, 4 to 10 mm in size, were present on the scalp, forehead (Fig 1), and side portions of the chin. Pathological examination of biopsy specimens from a nodular scalp lesion and of a neck papule (Fig 2) revealed an increase in fibroblasts, collagen, and deposits of mucin in the papillary and mid-reticular dermis. Laboratory analysis showed a progressive low platelet count (60-10 103/μL, normal range 150-400 103/μL, platelet count within normal limits 6 months earlier), with a normal peripheral blood smear result and a normocellular bone marrow with trilineage hematopoiesis. Serum protein electrophoresis, immunofixation electrophoresis of serum and urine, and immunoglobulin free light chain assays did not show paraproteinemia. Other laboratory examination findings including thyroid function were within normal limits and autoantibody screening produced negative results. Computed tomographic scans of the chest, abdomen, and pelvis showed no relevant abnormalities. Electromyography detected signs consistent with a right carpal tunnel syndrome and peripheral sensory and motor neuropathy. Based on clinical manifestations, and histopathological and laboratory data, the diagnosis of SM with a secondary immune thrombocytopenia was made. The patient was treated with 3 methylprednisolone pulses of 1 g, followed by 1 mg/kg/d of prednisone for 1 month, and intravenous immunoglobulins (2 g/kg per cycle). Administration of a second course of intravenous immunoglobulins, delivered after 4 weeks, dramatically improved skin manifestations; however persistence of low platelet count prompted the addition of romiplostim, a thrombopoietin-receptor agonist. The prescribed corticosteroids were gradually tapered off and romiplostim was withdrawn. After 12 months of follow-up, she remains asymptomatic and platelet count was within normal limits with a maintenance therapy of intravenous immunoglobulins every 2 months. The characteristic cutaneous manifestations in SM, also known as generalized lichen myxedematosus,1Rongioletti F. Rebora A. Updated classification of papular mucinosis, lichen myxedematosus, and scleromyxedema.J Am Acad Dermatol. 2001; 44: 273-278Abstract Full Text Full Text PDF PubMed Scopus (349) Google Scholar is a widespread eruption of 2- to 3-mm, firm, waxy papules, often in linear arrays, and the sclerodermoid induration of the skin. These characteristic skin findings were observed concomitantly with other unusual clinical findings in this patient. Nodular eruption3Singh S. Kanwar A.J. Saikia U.N. Scleromyxedema with disseminated subcutaneous nodules: rare presentation of an uncommon dermatosis.Clin Exp Dermatol. 2012; 38: 36-39Crossref PubMed Scopus (6) Google Scholar, 4Dolenc-Voljč M. Jurčić V. Hočevar A. Tomšič M. Scleromyxedema with subcutaneous nodules: successful treatment with thalidomide and intravenous immunoglobulin.Case Rep Dermatol. 2013; 5: 309-315Crossref PubMed Scopus (16) Google Scholar and scalp involvement leading to alopecia have been reported only sporadically.3Singh S. Kanwar A.J. Saikia U.N. Scleromyxedema with disseminated subcutaneous nodules: rare presentation of an uncommon dermatosis.Clin Exp Dermatol. 2012; 38: 36-39Crossref PubMed Scopus (6) Google Scholar Interestingly, the recently reported cases, with a prominent nodular eruption, presented in absence of underlying paraproteinemia.3Singh S. Kanwar A.J. Saikia U.N. Scleromyxedema with disseminated subcutaneous nodules: rare presentation of an uncommon dermatosis.Clin Exp Dermatol. 2012; 38: 36-39Crossref PubMed Scopus (6) Google Scholar, 4Dolenc-Voljč M. Jurčić V. Hočevar A. Tomšič M. Scleromyxedema with subcutaneous nodules: successful treatment with thalidomide and intravenous immunoglobulin.Case Rep Dermatol. 2013; 5: 309-315Crossref PubMed Scopus (16) Google Scholar Associated hematologic diseases in SM include Waldenström macroglobulinemia, Hodgkin lymphoma, and non-Hodgkin lymphoma, particularly after chemotherapy with melphalan.1Rongioletti F. Rebora A. Updated classification of papular mucinosis, lichen myxedematosus, and scleromyxedema.J Am Acad Dermatol. 2001; 44: 273-278Abstract Full Text Full Text PDF PubMed Scopus (349) Google Scholar To our knowledge, immune thrombocytopenia has not been reported previously in SM. Based on the current classification,1Rongioletti F. Rebora A. Updated classification of papular mucinosis, lichen myxedematosus, and scleromyxedema.J Am Acad Dermatol. 2001; 44: 273-278Abstract Full Text Full Text PDF PubMed Scopus (349) Google Scholar a final diagnosis of atypical form was made (SM without monoclonal gammopathy). Long-term follow-up to further characterize the natural course and prognosis in these patients is required.