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Blood Apr 2020Scleromyxedema is a rare skin and systemic mucinosis that is usually associated with monoclonal gammopathy (MG). In this French multicenter retrospective study of 33...
Scleromyxedema is a rare skin and systemic mucinosis that is usually associated with monoclonal gammopathy (MG). In this French multicenter retrospective study of 33 patients, we investigated the clinical and therapeutic features of MG-associated scleromyxedema. Skin molecular signatures were analyzed using a transcriptomic approach. Skin symptoms included papular eruptions (100%), sclerodermoid features (91%), and leonine facies (39%). MG involved an immunoglobulin G isotype in all patients, with a predominant λ light chain (73%). Associated hematologic malignancies were diagnosed in 4 of 33 patients (12%) (smoldering myeloma, n = 2; chronic lymphoid leukemia, n = 1; and refractory cytopenia with multilineage dysplasia, n = 1). Carpal tunnel syndrome (33%), arthralgia (25%), and dermato-neuro syndrome (DNS) (18%) were the most common systemic complications. One patient with mucinous cardiopathy died of acute heart failure. High-dose IV immunoglobulin (HDIVig), alone or in combination with steroids, appeared to be quite effective in nonsevere cases (clinical complete response achieved in 13/31 patients). Plasma cell-directed therapies using lenalidomide and/or bortezomib with dexamethasone and HDIVig led to a significant improvement in severe cases (HDIVig refractory or cases with central nervous system or cardiac involvement). The emergency treatment of DNS with combined plasmapheresis, HDIVig, and high-dose corticosteroids induced the complete remission of neurological symptoms in 4 of 5 patients. Quantitative reverse-transcriptase polymerase chain reaction analysis of 6 scleromyxedema skin samples showed significantly higher profibrotic pathway levels (transforming growth factor β and collagen-1) than in healthy skin. Prospective studies targeting plasma cell clones and/or fibrotic pathways are warranted for long-term scleromyxedema management.
Topics: Adult; Aged; Antineoplastic Agents; Bortezomib; Dexamethasone; Female; Glucocorticoids; Humans; Immunoglobulins, Intravenous; Immunologic Factors; Lenalidomide; Male; Middle Aged; Paraproteinemias; Plasma Cells; Plasmapheresis; Retrospective Studies; Scleromyxedema; Skin; Transcriptome
PubMed: 32027747
DOI: 10.1182/blood.2019002300 -
Indian Journal of Dermatology 2020Scleromyxedema is an uncommon disease, affecting the skin mainly and other internal organs sometimes, characterized by fibroblasts proliferation, fibrosis, and mucous...
Scleromyxedema is an uncommon disease, affecting the skin mainly and other internal organs sometimes, characterized by fibroblasts proliferation, fibrosis, and mucous deposition in the absence of thyroid disorder. It is associated with monoclonal gammopathy in most cases. We are reporting a case with a rare presentation of tumoral scleromyxedema in the neck, with a mass mimicking other tumoral lesions, highlighting the importance of diagnosis and histopathologic correlation.
PubMed: 32831375
DOI: 10.4103/ijd.IJD_450_18 -
Cureus Dec 2022Scleromyxedema is an uncommon and progressive fibromucinous disorder characterized by disseminated papular eruption with histological features of dermal mucin...
Scleromyxedema is an uncommon and progressive fibromucinous disorder characterized by disseminated papular eruption with histological features of dermal mucin deposition. The skin changes associated with this disease are highly visible and they tend to affect the patient's quality of life. We report a case of a 50-year-old male patient that presented a 3-year-old history of disseminated asymptomatic firm papules-associated systemic symptoms. Medical treatment with oral corticosteroid and thalidomide was indicated and surgical treatment on residual facial folds was performed, with an excellent outcome.
PubMed: 36686085
DOI: 10.7759/cureus.32729 -
Anais Brasileiros de Dermatologia 2016Scleromyxedema is a rare chronic cutaneous mucinosis of unknown etiology. It is characterized by papular eruption and scleroderma with microscopic evidence of mucin...
Scleromyxedema is a rare chronic cutaneous mucinosis of unknown etiology. It is characterized by papular eruption and scleroderma with microscopic evidence of mucin deposition, fibroblast proliferation, and fibrosis. Most patients with scleromyxedema have monoclonal gammopathy and systemic manifestations resulting in significant morbidity and mortality. Several types of treatment have been reported with partial or inconsistent responses. Despite showing unpredictable evolution, systemic consequences of scleromyxedema and treatment side effects may result in death. We describe a rare case of a patient with scleromyxedema without paraproteinemia with systemic involvement that evolved to death despite treatment with cyclophosphamide.
Topics: Biopsy; Fatal Outcome; Humans; Male; Middle Aged; Mucins; Scleromyxedema; Skin
PubMed: 28300892
DOI: 10.1590/abd1806-4841.20164527 -
JAAD Case Reports Aug 2022
PubMed: 35899146
DOI: 10.1016/j.jdcr.2022.06.022 -
Case Reports in Dermatology 2022Scleromyxedema is a rare but important mucinosis disorder of the skin that is presented with dermatological manifestations such as waxy papules, diffuse induration, and...
Scleromyxedema is a rare but important mucinosis disorder of the skin that is presented with dermatological manifestations such as waxy papules, diffuse induration, and nondermatologic involvements like neurological and renal disorders. We report a case series of the data regarding the characteristics and treatment of 14 patients diagnosed with scleromyxedema and their follow-up. Patients entered the study based on scleromyxedema diagnosis criteria. Comorbidities were also recorded to evaluate their effect on the treatment process. Clinicopathological and laboratory findings and responses to their treatment were evaluated separately. There was a significant improvement after administering intravenous immunoglobulin (IVIG). Despite the lack of a definite treatment for this condition, the present study shows that the application of IVIG can improve both cutaneous and systemic symptoms. Younger patients, in particular, responded significantly to the use of IVIG. More studies are required to investigate the potential efficacy of IVIG in the treatment of scleromyxedema.
PubMed: 35950147
DOI: 10.1159/000525211 -
Indian Dermatology Online Journal 2019Scleromyxedema is a rare progressive cutaneous mucinosis of unknown etiology with equal prevalence in both men and women. It is usually associated with monoclonal...
Scleromyxedema is a rare progressive cutaneous mucinosis of unknown etiology with equal prevalence in both men and women. It is usually associated with monoclonal gammopathy in most of the cases. Various treatment modalities have been tried for scleromyxedema including steroids, intravenous immunoglobulin (IVIg), autologous hematopoietic stem cell transplantation, and melphalan, but none has proved to be fully effective. This paper reports a case of scelromyxedema in a patient who was found to have multiple myeloma on further evaluation. The patient was treated with six cycles of bortezomib, thalidomide, and dexamethasone, following which he had complete resolution of his skin lesions. While recent case reports have mentioned treatment of patients of scleromyxedema with varying combinations of IVIg, thalidomide, bortezomib, and dexamethasone, we describe a patient who has been successfully treated with a combination of bortezomib, thalidomide, and dexamethasone with complete resolution of all skin lesions.
PubMed: 30775299
DOI: 10.4103/idoj.IDOJ_135_18 -
Frontiers in Medicine 2023Since the early 1990s, Ultraviolet (UV) A1 phototherapy has been described as an effective and safe treatment of a multitude of skin disorders. However, after...
The realistic positioning of UVA1 phototherapy after 25 years of clinical experience and the availability of new biologics and small molecules: a retrospective clinical study.
BACKGROUND
Since the early 1990s, Ultraviolet (UV) A1 phototherapy has been described as an effective and safe treatment of a multitude of skin disorders. However, after 30 years, its use has remained limited to few dermatological centers.
OBJECTIVE
To analyze the changes over the years and the current position of UVA1 phototherapy through a Real-World Evidence (RWE) study at a single tertiary referral center.
METHODS
We reviewed the medical files of 740 patients treated between 1998 and 2022. Treatment results were collected, efficacy was assessed by a grading scale and acute adverse effects were registered.
RESULTS
We treated patients with 26 different diseases. We registered marked improvement (MI) or complete remission (CR) in 42.8% of patients with morphea, 50% with Urticaria Pigmentosa, 40.7% with Granuloma annulare and 85.7% with skin sarcoidosis. Good results were obtained also in the treatment of chronic Graft Versus Host Disease (GVHD), Eosinophilic Fasciitis, Sclero-atrophic Lichen, skin manifestations of systemic lupus erythematosus and psoriasis of HIV+ patients. Systemic Sclerosis, Romberg's Syndrome, Bushke's Scleredema, Nephrogenic Fibrosing Dermopathy, REM Syndrome, Follicular Mucinosis, Pretibial Myxedema, Scleromyxedema, pemphigus foliaceus, chronic cutaneous lupus erythematosus, erythroderma of Netherton Syndrome and Necrobiosis Lipoidica were no or poorly responsive. In clinical indications where UVA1 was used as a second line phototherapy after narrow-band (NB)-UVB, we saw good MI or CR rates in Mycosis Fungoides (57% of patients), Atopic Dermatitis (33.9%), Pitiryasis Lichenoides chronica (50%), Pityriasis Lichenoides et varioliformis acute (75%) and Lymphomatod Papulosis (62.5%). Short-term adverse events were uncommon and mild.
CONCLUSION
Over the past decade, the annual number of treated patients has progressively declined for several reasons. Firstly, UVA1 phototherapy has taken a backseat to the cheaper and more practical NB-UVB phototherapy, which has proven effective for common indications. Secondly, the emergence of new, safe, and effective drugs for conditions such as atopic dermatitis, GVHD, and connective tissue disorders. Finally, our research has shown that UVA1 therapy is often ineffective or minimally effective for some rare diseases, contrary to previous case reports and small case series. Nonetheless, UVA1 continues to be a valuable treatment option for patients with specific skin disorders.
PubMed: 38076241
DOI: 10.3389/fmed.2023.1295145 -
Anais Brasileiros de Dermatologia 2016Scleromyxedema or lichen myxedematosus is a rare papular mucinosis of chronic and progressive course and unknown etiology. It is commonly associated with monoclonal...
Scleromyxedema or lichen myxedematosus is a rare papular mucinosis of chronic and progressive course and unknown etiology. It is commonly associated with monoclonal gammopathy and may show extracutaneous manifestations, affecting the heart, lung, kidney, and nerves. The diagnosis is based on four criteria: generalized papular and sclerodermoid lesions; mucin deposition, fibroblast proliferation, and fibrosis in the histopathology; monoclonal gammopathy; and no thyroid disorders. This article reports the case of a scleromyxedema patient with a recent history of acute myocardial infarction and monoclonal gammopathy.
Topics: Cell Proliferation; Dermis; Fibroblasts; Humans; Male; Middle Aged; Mucins; Scleromyxedema
PubMed: 28099617
DOI: 10.1590/abd1806-4841.20165725 -
Acta Myologica : Myopathies and... Mar 2019Scleromyxedema is a rare cutaneous mucinosis with frequent extracutaneous manifestations. Myopathy in scleromyxedema is a poorly recognized syndrome among neurologists...
Scleromyxedema is a rare cutaneous mucinosis with frequent extracutaneous manifestations. Myopathy in scleromyxedema is a poorly recognized syndrome among neurologists and can mimic idiopathic and connective tissue disease-associated inflammatory myopathy. Diagnosis is suspected by the characterization of the skin lesions and clinched by skin and muscle biopsies. Here, we report a patient with scleromyxedema and myopathy with the characteristic histopathological feature of mucin deposition in skin biopsy. Her muscle biopsy showed a picture consistent with scleromyxedema myopathy with vacuolar and inflammatory changes. The association with paraproteinemia, propensity to life-threatening central nervous system disease and good response to intravenous immunoglobulin necessitate the accurate diagnosis of this condition.
Topics: Adult; Biopsy; Diagnosis, Differential; Drug Therapy, Combination; Female; Glucocorticoids; Humans; Immunoglobulins, Intravenous; Immunosuppressive Agents; Myositis; Prednisolone; Scleromyxedema; Thalidomide
PubMed: 31309176
DOI: No ID Found