Scleromyxedema with the absence of monoclonal gammopathy, atypical form – extremely rare case

Abstract

Papular mucinosis is a rare condition, with an incidence of 1:50.000-1:150.000 cases[1], chronic evolution, clinically characterized by the development of papular lesions, due to the deposition of mucin and the intensification of the density of dermal collagen. The localized and disseminated forms are described as papular mucinosis or lichen myxedematous, while the disease with generalized, confluent lesions accompanied by sclerosis is defined as Scleromyxedema. [2] The prevalence of Scleromyxedema cases has not been determined, especially those with atypical presentation, being described unique cases in the specialized literature. Scleromyxedema is clinically characterized by multiple, firm, closely spaced papules, 1-3 mm in diameter, which may lead to generalized sclerodermoid infiltration of the skin, involving the face, trunk and limbs. Histopathological examination reveals: diffuse mucin deposits, fibroblastic proliferation and fibrosis. The diagnosis is based on the following criteria: generalized papular and sclerodermoid eruption, monoclonal gammopathy, no thyroid disorder and the classic triad of histopathological features. When 4 criteria are present and monoclonal gammopathy has been excluded paraclinically, the diagnosis of Scleromyxedema, the atypical form, is established. Recommended treatment includes alkylating agents, aromatic retinoids, systemic and topical corticosteroids, human immunoglobulin, plasmapheresis, dermabrasion, intralesional infiltration of hyaluronidase and triamcinolone, CO2 laser and PUVA therapy. The objective of the study was the evaluation of clinical-diagnostical peculiarities in an extremely rare case of Scleromyxedema, atypical form. Materials and methods A case study is presented. Case report: The clinical case study of Scleromyxedema, atypical form concerns a 44-year-old female patient with generalized lesions and a 2-year history of the disease. The clinical examination revealed: multiple closely spaced papules, symmetrically distributed, skin-colored, some of them brown, waxy, with a firm consistency, diffusely located on the face, trunk, limbs. The lesions, accompanied by moderate-slight itching, mainly at daytime. Paraclinical examinations: positive HBs Ag, absence of thyroid disorder, serum protein electrophoresis: absence of paraproteinemia. Histopathological examination revealed: normal-appearing epidermis, mucin deposits and fibroblastic proliferation in the reticular dermis, fibrosis of the deep dermis, thickened collagen bundles, fragmentation of elastic fibers, and a mild perivascular lymphocytic infiltrate. Treatment included systemic and topical corticosteroids. Conclusions The clinical appearance of the lesions was crucial in suspecting Scleromyxedema. Compliance with the 3 diagnostic criteria and the absence of monoclonal gammopathy made it possible to determine an atypical, extremely rare form of the disorder. The treatment provided control of the symptoms and limited the evolution of the disease, although the prognosis remains to be reserved.