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Clinical Laboratory Mar 2021Scleromyxedema (SME) is a rare mucinosis associated with monoclonal gammopathy. Several biochemical peculiarities of monoclonal immunoglobulins (Ig) in SME patients were...
BACKGROUND
Scleromyxedema (SME) is a rare mucinosis associated with monoclonal gammopathy. Several biochemical peculiarities of monoclonal immunoglobulins (Ig) in SME patients were reported in case reports or short series, such as IgGλ over-representation, cationic migration, and partial deletion.
METHODS
Monoclonal immunoglobulins (Ig) from the serum of 12 consecutive patients diagnosed with scleromyxedema (SME) were analyzed using electrophoretic and immunoblotting techniques.
RESULTS
All monoclonal Ig from 12 SME were of IgG1 subclass, with an overrepresentation of the lambda-type light chain and a cationic mobility on standard zone electrophoresis, as compared with 21 cases of monoclonal gammopathy of undetermined significance (MGUS) of IgG1 subclass. Reactivity with specific monoclonal antibodies demonstrated no evident deletion of the heavy chain constant domains, which was also confirmed by analysis of Ig heavy chain molecular weight on a purified monoclonal component from one case.
CONCLUSIONS
Significant isotype restriction of both heavy and light chains, and peculiar biochemical properties suggest that monoclonal Ig might be involved in pathophysiological events of SME.
Topics: Antibodies, Monoclonal; Humans; Immunoglobulin G; Immunoglobulin lambda-Chains; Paraproteinemias; Scleromyxedema
PubMed: 33739037
DOI: 10.7754/Clin.Lab.2020.200605 -
Clinical Case Reports Dec 2020Scleromyxedema is a rare and progressive disease that currently has no standard treatment. Triplet therapy with lenalidomide, bortezomib, and dexamethasone can be an...
Scleromyxedema is a rare and progressive disease that currently has no standard treatment. Triplet therapy with lenalidomide, bortezomib, and dexamethasone can be an effective therapy for scleromyxedema, especially in patients with refractory or relapsed disease.
PubMed: 33363876
DOI: 10.1002/ccr3.3302 -
Dermatology Online Journal Oct 2018Cutaneous mucinosis of infancy (CMI) is a rare dermatologic condition, first reported in 1980 and currently classified within the complex group of papular mucinoses. We... (Review)
Review
Cutaneous mucinosis of infancy (CMI) is a rare dermatologic condition, first reported in 1980 and currently classified within the complex group of papular mucinoses. We report a case of CMI and review the prior 13 cases in the literature. The patient was a 5-year-old girl who presented with asymptomatic dermal papules and plaques on her leg and back with no overlying color change. These lesions were first noticed during infancy and had become slightly more evident over time. The patient had a history of birthmarks and eczema. Her family history included eczema, allergies, photosensitivity, and Graves disease. Pre-biopsy clinical differential diagnosis included connective tissue nevus, granuloma annulare, myofibroma, lipofibroma, and lymphangioma. Biopsies revealed significant increase in interstitial mucin within the reticular and mid dermis, without significant sclerosis or fibroblastic proliferation. The relatively quiescent pattern of interstitial mucinosis with slight fibrocyte hyperplasia presenting as dermal papules-plaques on the trunk and extremities was most consistent with a diagnosis of CMI. We report another case of CMI in an otherwise healthy patient. Our patient is unique as she is the first CMI patient with a family history of Graves disease, although our patient appeared euthyroid. We will also review the literature on this rare entity.
Topics: Biopsy; Child, Preschool; Diagnosis, Differential; Female; Granuloma Annulare; Graves Disease; Humans; Medical History Taking; Mucinoses; Myofibroma; Nevus; Scleromyxedema; Skin Neoplasms
PubMed: 30677812
DOI: No ID Found -
Indian Dermatology Online Journal 2019Scleromyxoedema is a rare generalized cutaneous mucinosis, which in absence of thyroid disease, occurs almost invariably in patients with monoclonal gammopathies. A...
Scleromyxoedema is a rare generalized cutaneous mucinosis, which in absence of thyroid disease, occurs almost invariably in patients with monoclonal gammopathies. A 54-year-old female patient presented with complaint of tightening of skin on the extremities, abdomen, forehead, gradually progressive since 1 year, episodes of generalized tonic-clonic convulsions, and acute psychosis since 5 days. Cutaneous examination revealed nonpitting edema over the face and sclerodermoid changes over extremities. Laboratory investigations showed presence of M-band on serum-protein electrophoresis and monoclonal spike of IgG lambda component on immunofixation. Magnetic resonance imaging of the brain showed periventricular subcortical lacunar infarcts. Skin biopsy with mucin staining was suggestive of scleromyxoedema. All other investigations were normal. Bone marrow biopsy showed a mild focal increase in plasma cells. The cutaneous, serological, and electrophoretic findings as well as the clinical profile of the patient were consistent with the diagnosis of monoclonal gammopathy of undetermined significance associated with scleromyxoedema. This case is presented because of its rare occurrence.
PubMed: 30775300
DOI: 10.4103/idoj.IDOJ_138_18 -
Journal of Scleroderma and Related... Jun 2021Scleromyxedema is a mysterious cutaneous mucinosis of unknown etiology. Various types of scleromyxedema variant have been reported, which often give us a clue to...
Scleromyxedema is a mysterious cutaneous mucinosis of unknown etiology. Various types of scleromyxedema variant have been reported, which often give us a clue to understand the key aspects of this disease. Here, we describe a woman with highly unusual type of scleromyxedema. In addition to the rare manifestations of multiple subcutaneous nodules and IgM-λ paraproteinemia, our patient showed several characteristic symptoms of scleroderma such as shortened nails and fingertips, sclerodactyly, and bone resorption of fingertips and mandibles as a result of peripheral circulatory insufficiency, although this disease is known to be pathophysiologically different from scleroderma. A skin biopsy revealed cutaneous microvascular stenosis and occlusion due to intravascular mucin deposition and fibrotic changes, suggesting that scleromyxedema potentially develops peripheral circulatory disorders and other vascular involvement. The subcutaneous nodules were responsive to high-dose intravenous immunoglobulin. Scleromyxedema can represent a wide variety of systemic involvement, and therefore, we should pay attention to those symptoms as well as skin lesions.
PubMed: 35386736
DOI: 10.1177/2397198320974190 -
Discrete Papular Lichen Myxedematosus and Scleromyxedema with Hypothyroidism: A Report of Two Cases.Case Reports in Dermatology 2019Scleromyxedema and lichen myxedematosus (LM) are rare disorders that fall along the spectrum of primary cutaneous mucinoses. Scleromyxedema is a systemic form that...
Scleromyxedema and lichen myxedematosus (LM) are rare disorders that fall along the spectrum of primary cutaneous mucinoses. Scleromyxedema is a systemic form that classically presents with generalized waxy papules, sclerodermoid eruption, and monoclonal gammopathy; LM is a localized form limited to the skin that classically presents with white, firm, waxy papules and lacks monoclonal gammopathy. According to diagnostic criteria established in 2001, the diagnosis of both conditions requires absence of thyroid disease. However, atypical cases that lack monoclonal gammopathy and that present with hypothyroidism have been reported, suggesting that these criteria may require revision. First, we report a case of a 58-year-old female with a history of Hashimoto thyroiditis and biopsy-proven scleromyxedema responsive to intravenous immunoglobulin therapy with delayed presentation of monoclonal gammopathy. Next, we report a case of a 54-year-old female with a history of hypothyroidism, Hodgkin's lymphoma in remission after radiation and chemotherapy, and concurrent rheumatoid arthritis, with biopsy-proven LM temporarily responsive to systemic steroids. Our cases demonstrate that patients with papular mucinoses can have a multitude of concurrent and prior rheumatologic and endocrine conditions, including thyroid disease, which should not preclude a diagnosis of scleromyxedema and LM.
PubMed: 31011315
DOI: 10.1159/000498881 -
Indian Journal of Dermatology 2016
PubMed: 26951784
DOI: 10.4103/0019-5154.174204 -
BMC Research Notes Aug 2014Body swelling in a child is a common symptom. Apart from systemic causes like renal, hepatic, and cardiac, rarely such a swelling may be caused by dermatologic... (Review)
Review
BACKGROUND
Body swelling in a child is a common symptom. Apart from systemic causes like renal, hepatic, and cardiac, rarely such a swelling may be caused by dermatologic conditions.
CASE PRESENTATION
A child presented with swelling of the body which was subsequently diagnosed as scleredema, a rare and benign dermatologic condition. Scleredema can be confused with similar sounding terms like scleroderma and scleromyxedema.
CONCLUSIONS
The case is presented to highlight scleredema as a rare cause of body swelling in paediatrics and to differentiate it from similar sounding rare terms like scleroderma and scleromyxedema.
Topics: Child, Preschool; Humans; Male; Scleredema Adultorum
PubMed: 25159854
DOI: 10.1186/1756-0500-7-571 -
Dermatology Online Journal Dec 2014Scleromyxedema is a generalized and progressive fibromucinous disorder associated with substantial cutaneous and systemic morbidity. The diagnosis is often challenging,...
Scleromyxedema is a generalized and progressive fibromucinous disorder associated with substantial cutaneous and systemic morbidity. The diagnosis is often challenging, as is management. We present here a patient with scleromyxedema with atypical, granuloma annulare-like histology, which contributed to delayed diagnosis and management, including a delayed workup for multiple myeloma. Ultimately, the patient did well with appropriate therapy, but his presentation illustrates the importance of more widespread familiarity among dermatologists and dermatopathologists with this variant of scleromyxedema.
Topics: Diagnosis, Differential; Granuloma Annulare; Humans; Immunoglobulins, Intravenous; Immunologic Factors; Male; Middle Aged; Monoclonal Gammopathy of Undetermined Significance; Scleromyxedema
PubMed: 25780962
DOI: No ID Found -
European Journal of Rheumatology Dec 2015Scleromyxedema is an uncommon connective tissue disease characterized by mucin deposits, fibrosis, and proliferation of fibroblasts in the dermis. Although it shares...
Scleromyxedema is an uncommon connective tissue disease characterized by mucin deposits, fibrosis, and proliferation of fibroblasts in the dermis. Although it shares similar sclerodermoid features, it is a different clinical entity than scleroderma. A monoclonal gammopathy is almost always present; however, progression to multiple myeloma is rare. It may have many systemic manifestations, of which the most notable being the dermato-neuro syndrome because of its rarity and potential fatal outcome. We present a case of a 50-year-old woman with scleromyxedema in whom the dermato-neuro syndrome developed.
PubMed: 27708955
DOI: 10.5152/eurjrheum.2015.0116