AUTOINFLAMMATORY DISEASES IN HEMATOLOGY FROM DIAGNOSIS TO TREATMENT

AUTOINFLAMMATORY_DISEASES_IN_HEMATOLOGY_FROM_DIAGNOSIS_TO_TREATMENTkapak

SCLEROMYXEDEMA

Bedrettin Orhan

Bursa Yüksek İhtisas Training and Research Hospital, Department of Hematology, Bursa, Türkiye

Orhan B. Scleromyxedema. In: Kurt Yüksel M, editor. Autoinflammatory Diseases in Hematology from Diagnosis to Treatment. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.151-160.

ABSTRACT

Scleromyxedema is a primary cutaneous mucinosis characterized by dermal fibrosis, induration areas due to dermal mucin deposition, and numerous hard papules and progresses with monoclonal gammopathy (MG). Scleromyxedema is usually seen between the ages of 30-80 and the average age at diagnosis has been revealed to be 59 years. The cutaneous manifestations of scleromyxedema are widespread, symmetrical, multiple, 2-3 mm in diameter, transparent, waxy, very close papular eruptions. The lesions are not pruritic. The localizations of these papules are the face, behind the ears, nape, upper trunk, distal upper extremities, hands and buttocks. The two pathognomonic pathological findings-mucin deposition and fibroblast activation with fibrosis-have no known causes, leaving the primary source of the disease unexplained. Interleukin (IL)-1, IL-6, tumor necrosis factor alpha and beta, and transforming growth factor beta (TGF-b) are important promoters of glycosaminoglycan production; however, no source of release has been found. The diagnosis cannot be confirmed without at least three of the observations: Presense of generalized papular and sclerodermoid manifestations; Monoclonal gammopathy Characteristic microscopic findings (mucin deposition, fibroblast proliferation, fibrosis); Absence of thyroid pathology. High-dose intravenous immunoglobulins (hd-IVIg) are the first-line treatment option. Systemic corticosteroids, thalidomide, or lenalidomide, are used in second-line treatments. Peripheral blood autologous stem cell transplant (ASCTs) are the third line of treatment for refractory diseases. In general, the disease is chronic and tends to have a poor response to treatments. Therefore, regular follow-up of patients with scleromyxedema is crucial.

Keywords: Scleromyxedema; Monoclonal gammopathy; Fibrosis

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