Long-term efficacy of high doses of intravenous immunoglobulins in generalized scleromyxoedema: Case report

Abstract

Scleromyxoedema is a rare disease with a progressive and disabling course involving dermal deposition of mucin and fibroblast proliferation; it is characterized clinically by a diffuse papular eruption, skin thickening, oedema and decreased skin flexibility, especially of the face and hands. Current therapy options are based on evidence from a limited number of case reports. The clinical manifestations and treatment of a 64-year-old man affected by scleromyxoedema with severe skin involvement of the face, arms and hands, decreased mouth opening and hypomotility of the fingers are reported. Dysphagia, asthenia and immunoglobulin G lambda monoclonal gammopathy were also present. Previous treatment with topical and systemic corticosteroids, psoralen plus ultraviolet A radiation therapy, plasmapheresis, extracorporeal photochemotherapy, hydroxychloroquine and cyclophosphamide had been unsuccessful. Treatment with intravenous immunoglobulins at a dosage of 2 g/kg monthly was started. Considerable improvements were observed after seven cycles of therapy, with recovery of skin elasticity, an increase in facial mimic movement, restoration of joint function and improvement in the modified Rodnan score. There were no observed side-effects. The patient remains in remission on monthly maintenance intravenous immunoglobulins, 2 years after initial treatment.

Keywords: High-dose intravenous immunoglobulin; modified Rodnan score; scleromyxoedema.

Figure 1.

(a) Left hand of a patient with scleromyxoedema before treatment, showing oedema, stiffness, erythema and ulceration. (b) The same hand after 3 months’ high-dose intravenous immunoglobulin therapy, showing resolution of the oedema, erythema and ulceration, good mobility and visible skin folds and wrinkles.

Figure 2.

Face of a patient with scleromyxoedema: (a) before treatment, showing severe erythema, papules and plaques, especially on the glabella, thinning of the eyebrows and reduced mobility; (b) after 3 months’ high-dose intravenous immunoglobulin therapy, showing improvement in erythema and oedema and improved mobility; (c) after 5 months’ high-dose intravenous immunoglobulin therapy, showing further improvements in erythema and mobility, with disappearance of the papules and plaques on the glabella.