OA14 A case of scleromyxedema with muscle involvement including myotonia and dysphagia

Abstract Introduction/Background Scleromyxedema is a rare, para-neoplastic, progressive condition of the Lichen myxedematous family. It is clinically characterized by generalized papules with skin infiltration and underlying systemic disorders, which may be fatal as it still constitutes a therapeutic dilemma. Description/Method We are reporting a rare case of scleromyxedema presented to the rheumatology department mainly with dysphagia, weight loss, lower limb weakness and myotonia under dermatological and haematological review. Case description: In January 2011, a 49-year-old man who was diagnosed year earlier with papular mucinosis and paraproteinemia-M band 8g/l (Monoclonal gammopathy of undetermined significance (MGUS)) presented with dysphagia mainly for solid, weight loss about 10 kg over the period of three months without other B symptoms and stiffness mainly in the hands and hips when walking or opening a jar described as slow relaxation following contraction. On examination he looked well with full upper limb muscle strength. Scleromyxedmatous skin lesion in the form of multiple painful erythematous plaques and grouped papules involving his knees, elbows, dorsum of the hands and feet were appreciated. There were no telangiectasias or calcinosis. Neurological examination was unremarkable without muscle wasting or fasciculations, but there was a slow release of grip. Chest, heart, and abdominal examination was normal. There was marked improvement of his skin lesion on 50mg thalidomide up to 150 mg daily, however his condition, including the skin lesions fluctuated in severity. Overall, he exhibited a benign course. The myotonia seemed to improve over time. Discussion/Results Investigations showed raised creatine kinase at 1200 with normal full blood counts, normal renal, liver, calcium, CRP, ANA, ANCA and thyroid function test, normal Anti GAD, normal anti-voltage-gated potassium channel antibodies, normal barium swallow, unremarkable CT scan of chest, abdomen, and pelvis. Bone marrow biopsy ruled out plasma cell proliferation, M band always stable at 8 to 10 g/l. There were typical myotonic discharges on EMG with normal NCS. Normal MD and PROMM at ZNF9 genes. Muscle biopsy showed several groups of very small atrophic fibres and patchy fibrosis with attempts of regeneration with PAS positive vacuoles deposition within the muscle fibres, replacing in places the majority of sarcoplasm with evidence of increased fibroblastic activity. Over three to fou