Scleromyxedema with Subcutaneous Nodules: Successful Treatment with Thalidomide and Intravenous Immunoglobulin
A 42-year-old male had been well until December 2008, when he noted progressive swelling of the face, hands and forearms, accompanied by pruritus, increased hair loss, arthralgia, myalgia and fatigue. In the following weeks, skin induration of the hands and forearms, papular eruption on the neck and upper trunk, and nodular lesions on the face and fingers developed. The patient was admitted to the local hospital, where systemic fibrosing disorder was suspected and systemic glucocorticoid treatment (methylprednisolone 1 mg/kg body weight) was introduced. Since only partial regression of the facial and hand edemas was observed, he was referred to the University Medical Centre Ljubljana, initially to the Department of Rheumatology and later to the Department of Dermatovenereology.\nAt admission in February 2009, dense papular lesions were present on the neck, retroauricular areas, scalp and upper trunk, partly in a linear arrangement. Sclerodactyly with impaired finger motility was present. Tender nodules of a hard consistency could be palpated bilaterally on the upper and lower eyelids, on the forehead, lateral parts of the nose, behind the ears and on the fingers (fig. ). Sclerodermoid induration of the skin with irregular loss of hair was present on the forearms. The patient still complained of general symptoms and dysphagia.\nComplete blood cell count, serum levels of inflammatory parameters, electrolytes, glucose, calcium, creatinine kinase, myoglobin, aldolase as well as tumor markers were within normal range. Renal function tests and urinalysis were normal. Testing for antitopoisomerase and anticentromeric antibodies, antiphospholipid antibodies and cryoglobulins was negative. Thyroid function was normal. Serum protein electrophoresis showed polyclonal hypergammaglobulinemia without paraproteinemia. In addition, immunofixation electrophoresis of serum and urine did not show monoclonal paraproteinemia.\nChest radiograph was normal, as were the results of lung function tests, abdominal ultrasound, echocardiography, nailfold capillaroscopy, radiographs of the hands and feet and bone marrow examination. Since electromyography detected signs consistent with myopathy, neurological examination and muscle biopsy were performed. The former revealed no pathology but the biopsy demonstrated mild myopathy with atrophy involving selectively type 2 fibers without inflammation. Photoplethysmography did not confirm Raynaud's phenomenon. Computer tomography of the periorbital region excluded involvement of extracutaneous tissue with nodules.\nBiopsies of the nodules on the hand and periorbital region and of papular lesions on the trunk were performed. Histopathological examination was characteristic of scleromyxedema in all three specimens. There was abundant proliferation of large stellate fibroblasts in the reticular dermis and subcutis, with prominent deposits of a myxoid substance between thick collagen bundles. Mucin deposition was demonstrated with Alcian blue staining (fig. ).\nAccording to the clinical picture and histopathology, a diagnosis of scleromyxedema was established. Treatment with thalidomide was introduced (initial dosage 100 mg/day) and the previously prescribed glucocorticoid gradually tapered off and discontinued. After 3 months of thalidomide treatment, only a partial regression of the skin lesions was achieved. Myalgia and arthralgia persisted. Therefore, additional treatment with high-dose IVIg was introduced (0.4 g/kg body weight/day for 5 consecutive days every month for the duration of 6 months). After only two cycles of IVIg, a marked regression of the nodular lesions on the face and hands and improvement of the papular and sclerodermoid mucinosis was observed. The general clinical condition of the patient improved significantly. Thereafter, he received four additional cycles of IVIg at the same dosage at 8-week intervals. Treatment with thalidomide was continued with a lower daily dose (50 mg/day) and finally discontinued in July 2011 due to complete disease remission (fig. ).\nDuring the 2-year follow-up, the patient sustained a complete drug-free remission. Results for paraproteinemia were negative. During thalidomide treatment, the patient reported numbness in his feet; however, electromyographic investigation did not confirm a peripheral sensory neuropathy.