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Clinics in Dermatology 2020Sclerodermalike syndromes (SLSs) comprise diseases with mucin deposition (eg, scleromyxedema, scleredema), with eosinophilia (eg, eosinophilic fasciitis), metabolic or...
Sclerodermalike syndromes (SLSs) comprise diseases with mucin deposition (eg, scleromyxedema, scleredema), with eosinophilia (eg, eosinophilic fasciitis), metabolic or biochemical abnormalities (eg, nephrogenic systemic fibrosis), or endocrine disorders (eg, POEMS syndrome, or polyneuropathy, organomegaly, endocrinopathy, monoclonal lymphoproliferative disorder, and hypothyroidism). Chronic graft-versus-host disease may also show sclerodermalike skin changes. Inherited progeria syndromes with early aging (eg, Werner syndrome) and a heterogeneous group of hereditary disorders with either skin thickening (eg, stiff skin syndrome) or atrophy and tightening (eg, acrogeria) can also imitate classic systemic sclerosis (SSc). In addition, SLSs can be provoked by several drugs, chemicals, or even physical injury (eg, trauma, vibration stress, radiation). In SLSs, the distribution of skin involvement seems to be atypical compared with SSc. The acral skin involvement is usually missing, and lack of Raynaud phenomenon, scleroderma-specific antinuclear antibodies, the absence of scleroderma capillary pattern, and internal organ manifestations indicate the presence of an SLS. Skin involvement is sometimes nodular, and the underlying tissues can also be affected. For the differential diagnosis, a skin biopsy of the deeper layers including fascia and muscle is required. Histology does not always allow differentiation between SSc and SLSs; therefore, the diagnosis is often based on the distribution, quality of cutaneous involvement, and other accompanying clinical features.
Topics: Biopsy; Diagnosis, Differential; Humans; Scleroderma, Systemic; Skin; Syndrome
PubMed: 32513403
DOI: 10.1016/j.clindermatol.2019.10.010 -
Journal of Clinical Rheumatology :... Aug 2021
Topics: Humans; Hyperphosphatemia; Immunoglobulins, Intravenous; Scleromyxedema; Skin
PubMed: 32028300
DOI: 10.1097/RHU.0000000000001290 -
Clinics in Dermatology 2021Acral persistent papular mucinosis (APPM) is a subtype of localized lichen myxedematosus (LM) characterized by the chronic development of white to skin-colored papules...
Acral persistent papular mucinosis (APPM) is a subtype of localized lichen myxedematosus (LM) characterized by the chronic development of white to skin-colored papules and limited to the extensor surfaces of the hands and distal part of forearms, in the absence of systemic or laboratory manifestations. There is a strong predominance in women. Histopathology shows focal accumulation of mucin in the upper portion of the dermis sparing the grenz zone. The etiology is unknown. It is a benign condition, although dynamic changes occur with the progressive development of additional lesions. No specific treatment is required, and patients should be reassured about the prognosis.
Topics: Female; Humans; Laboratories; Scleromyxedema; Skin Diseases
PubMed: 34272012
DOI: 10.1016/j.clindermatol.2020.10.001 -
Cureus Oct 2021Solitary cutaneous focal mucinosis is a unique condition defined by the presence of mucin, a hyaluronic acid complex, in the dermis. The lesion typically presents as an...
Solitary cutaneous focal mucinosis is a unique condition defined by the presence of mucin, a hyaluronic acid complex, in the dermis. The lesion typically presents as an isolated, asymptomatic papule or nodule on the extremities or back and is not associated with any systemic condition. Conversely, multiple cutaneous focal mucinosis present with numerous skin lesions has been found to be associated with systemic diseases such as scleromyxedema, systemic lupus erythematous, and thyroid disease. Therefore, additional laboratory investigation should be considered when multiple cutaneous focal mucinosis is discovered. The case of a 37-year-old man with solitary cutaneous focal mucinosis is discussed. The skin lesion presented as an asymptomatic nodule on his right upper shoulder; microscopic evaluation established the diagnosis, and laboratory investigation was negative for any associated conditions. Similar to previous reports of solitary cutaneous focal mucinosis, our patient provides additional supporting evidence that laboratory studies for mucin-associated systemic disease are not required for individuals who present with cutaneous focal mucinosis consisting of only a solitary skin lesion.
PubMed: 34786224
DOI: 10.7759/cureus.18618 -
Arthritis Care & Research Jun 2020Scleromyxedema (SMX) is a rare systemic sclerosis mimic that often responds to intravenous immunoglobulin (IVIG) therapy, yet the resulting clinical and biochemical...
OBJECTIVE
Scleromyxedema (SMX) is a rare systemic sclerosis mimic that often responds to intravenous immunoglobulin (IVIG) therapy, yet the resulting clinical and biochemical changes have not been well characterized. To better understand the pathogenesis of the disease and the efficacy of IVIG, we sought to explore whether IVIG would introduce a measurable biologic effect corresponding with clinical improvement.
METHODS
Fifteen patients with SMX were recruited for the study. Clinical information and peripheral blood mononuclear cells for flow cytometry were obtained immediately before and again 1-2 weeks after patients received IVIG therapy. Ten patients also underwent skin biopsies for gene expression analysis both before and after IVIG therapy. Clinical data included measures of skin involvement (modification of the modified Rodnan skin thickness score [MMRSS] and percentage of body surface area) and several patient-reported outcome measures assessing patients' skin.
RESULTS
Posttreatment, the average MMRSS score decreased from mean ± SD 13.6 ± 2.6 to 10.3 ± 1.9; P = 0.003. There were also significant improvements in skin flexibility (mean ± SD 5.4 ± 0.8 to 3.2 ± 0.7; P = 0.003) and softening (mean ± SD 4.9 ± 0.9 to 2.6 ± 0.6; P = 0.022). Baseline levels of Tc17 cells (CD8+CCR6+CXCR3+CCR4-) correlated with the extent of skin involvement as measured by MMRSS pretreatment (r = 0.69, P = 0.012) and decreased after IVIG therapy (mean ± SD 3.4% ± 3.2% to 1.3% ± 1.7%; P = 0.008). Posttreatment analysis of RNA in skin tissue revealed a decrease in gene expression of transforming growth factor β (TGFβ) cytokines as well as several interferon-inducible proteins.
CONCLUSION
This open-label study further supports the evidence that patients with SMX respond both objectively and subjectively to IVIG therapy. Biologic studies suggest a role for T lymphocytes in the pathogenesis of the disease and reveal the potential significance of TGFβ and interferon pathways.
Topics: Adult; Biomarkers; CD4 Lymphocyte Count; Female; Humans; Immunoglobulins, Intravenous; Male; Middle Aged; Prospective Studies; Scleromyxedema; Skin
PubMed: 31008568
DOI: 10.1002/acr.23908 -
Retinal Cases & Brief Reports Nov 2023We discuss a case of macular edema and retinal hemorrhage associated with scleromyxedema.
PURPOSE
We discuss a case of macular edema and retinal hemorrhage associated with scleromyxedema.
METHODS
A case report is presented.
RESULTS
A 64-year-old male with history of deep vein thrombosis and pulmonary embolism presented with new onset rash in the setting of switching anticoagulation treatments. He developed blurred vision was found to have macular edema and dot blot retinal hemorrhages which improved with systemic and topical corticosteroids.
CONCLUSIONS
Systemic autoimmune conditions including scleromyxedema should be considered in the workup of occult cystoid macular edema.
PubMed: 37910641
DOI: 10.1097/ICB.0000000000001510 -
The Lancet. Rheumatology May 2022Monoclonal proteins can provide important information on the diagnosis of several non-malignant systemic inflammatory disorders. At low concentration, they most commonly... (Review)
Review
Monoclonal proteins can provide important information on the diagnosis of several non-malignant systemic inflammatory disorders. At low concentration, they most commonly represent monoclonal gammopathy of undetermined significance (MGUS), whereas high concentrations often signify plasma cell myeloma or B-cell lymphoma. However, several rare inflammatory conditions associated with variable concentrations of monoclonal proteins, systemic symptoms, and organ dysfunction also exist. These conditions are termed monoclonal gammopathies of clinical significance (MGCS). Patients with MGCS might present to rheumatologists with undiagnosed systemic inflammatory disorders and the monoclonal protein provides an important, underappreciated clue for diagnosis. In this Review, we provide an approach to distinguishing MGCS from MGUS and lymphoid neoplasms, focusing on four rare MGCS that rheumatologists must recognise: scleromyxedema, Schnitzler's syndrome, idiopathic systemic capillary leak syndrome (also known as Clarkson's disease), and telangiectasias, elevated erythropoietin and erythrocytosis, monoclonal gammopathy, perinephric fluid collections, and intrapulmonary shunting (known as TEMPI) syndrome.
PubMed: 38294033
DOI: 10.1016/S2665-9913(21)00348-9 -
JAAD Case Reports May 2021
PubMed: 33912636
DOI: 10.1016/j.jdcr.2021.03.023 -
Annals of the Academy of Medicine,... Aug 2016
Topics: Humans; Leg; Magnetic Resonance Imaging; Male; Middle Aged; Scleromyxedema
PubMed: 27683746
DOI: No ID Found -
Cutis Dec 2016
Topics: Humans; Male; Middle Aged; Pruritus; Scleromyxedema; Skin Diseases
PubMed: 28099537
DOI: No ID Found