RESUMEN

Background: Cardiac mucinous deposits are a rare entity only previously described in the setting of scleromyxedema, a disorder characterized by cutaneous and systemic mucin deposits, fibroblastic proliferation, and monoclonal gammopathies. Case summary: A 41-year-old woman was transferred to our hospital after a month-long hospitalization with worsening cardiogenic shock requiring ionotropic support. Cardiac magnetic resonance imaging revealed a left ventricular ejection fraction of 23%, prior right coronary artery infarct, full-thickness late gadolinium enhancement in the left ventricle basilar wall, global abnormal parametric mapping parameters of both native T1, T2, and extracellular volume, and severe biventricular dysfunction concerning for infiltrative cardiomyopathy. Endomyocardial biopsy demonstrated heavy deposits of interstitial mucin, confirmed by electron microscopy; a Congo red stain was negative for amyloid. She was treated with an aggressive decongestive strategy, oral guideline-directed medical therapy, and intravenous immunoglobulin (IVIg); she was discharged home off inotropic support. Subsequently, she had three additional hospitalizations for heart failure exacerbation in a span of 6 months, and her overall prognosis remains guarded. Discussion: We report a first known case of isolated cardiac myxedematosus associated with a severe systolic and diastolic cardiomyopathy. Our patient did not have any clinical evidence of systemic scleromyxedema or paraproteinemia, both of which have been reported in association with cardiac mucin deposits. Mucinosus has been described in patients with systemic lupus erythematous; however, cardiac deposits have not been reported. While IVIg has been used as a treatment in previously reported cases of cardiac scleromyxedema, its clinical benefit remains unclear in isolated cardiac myxedematosus.

RESUMEN

Lichen myxedematosus (LM) is characterized by dermal mucin buildup, fibroblast proliferation, and variable presentation. The diffuse variant, known as scleromyxedema, is identified by monoclonal paraprotein presence and lack of thyroid issues, with considerations for infections and underlying conditions. Despite lacking FDA-approved treatment, intravenous immunoglobulin stands as effective, although resource-intensive, while targeting the clonal source of pathogenic immunoglobulin offers an alternate therapeutic route. Our case explores the efficacy of an oral plasma cell-focused lenalidomide regimen, inducing relief and treatment-free periods, while still facing relapses. However, this approach poses risks, necessitating a comparative safety and efficacy assessment. Data remains insufficient to establish the prolonged efficacy of plasma cell-targeted therapy versus alternatives for monoclonal gammopathy of undetermined significance-associated scleromyxedema. We present the case of a 54-year-old male patient diagnosed with LM managed for six years with relapsing and remitting symptoms.

RESUMEN

Lichen myxedematosus (LM) is a chronic cutaneous mucinosis that can present as a localized skin lesion or as a generalized systemic disease termed scleromyxedema. The differential diagnosis is determined by a combination of clinical presentation, serological studies, and histopathological examination. Currently, well-established and accepted histopathological features to distinguish localized LM from scleromyxedema have not been elucidated. Our recent publication, together with a retrospective literature review, suggests that the presence of groups of light chain-restricted plasma cells represents a distinct histopathological clue for the diagnosis of localized LM. In this report, we provide two additional cases of localized LM with lambda light chain-restricted plasma cells, together with clinical and histopathological findings that are similar to our previous publication. These cases support our theory that the light chain-restricted plasmacytic microenvironment is primarily attributed to the pathogenesis of localized LM. Therefore, we consider these cases to constitute a clinically and pathologically new variant of localized LM and name it primary localized cutaneous LM with light chain-restricted plasma cells.

Asunto(s)

RESUMEN

Scleromyxedema (SMX) is a rare disease of unknown cause. It is a chronic, progressive, metabolic disorder characterized by a generalized papular and scleroderma-like rash, as well as a subtype of lichen myxedematosus. Dermato-neuro syndrome (DNS) is a rare neurological complication of SMX. It has flu-like prodromal symptoms; consists of a triad of fever, coma, and seizures; and can be life-threatening. We describe a patient with SMX complicated by DNS after infection with COVID-19. Her symptoms resolved after treatment with acyclovir and low-dose glucocorticoids, suggesting that DNS seizures may have a viral cause. Her skin lesions also improved after seven courses of intravenous immunoglobulin treatment, confirming that intravenous immunoglobulin is effective in these cases.

Asunto(s)

RESUMEN

Scleroderma-like cutaneous lesions have been found in many pathological conditions and they have the clinical appearance of sclerotic or scleroatrophic lesions. Affected skin biopsies described histopathological changes similar to those of scleroderma located strictly on the skin or those of systemic sclerosis. These skin lesions can be found in inflammatory diseases with autoimmune substrate (generalized morphea, chronic graft versus host disease, eosinophilic fasciitis), tissue storage diseases (scleredema, scleromyxedema, nephrogenyc systemic fibrosis, systemic amyloidosis), metabolic diseases (porphyrya cutanea tarda, phenylketonuria, hypothyroidism, scleredema diabeticorum), progeroid syndromes. Given the multiple etiologies of sclerodermal lesions, a correct differential diagnosis is necessary to establish the appropriate treatment.

Asunto(s)

RESUMEN

Introduction: The Sinopharm BBIBP-CorV vaccine produces a variety of cutaneous adverse effects. Scleromyxedema is a mucinous connective tissue disorder that causes skin thickness and sclerodermoid changes. According to our findings, this is the first case of scleromyxedema induced by the Sinopharm immunization. Case description: We discuss the case of a 75-year-old woman who acquired progressive thickening of the skin in her limbs and trunk after getting the Sinopharm vaccination. Examination, laboratory testing, and a biopsy were used to verify scleromyxedema diagnosis. Intravenous immunoglobulins, mycophenolate mofetil, and prednisolone were used in the treatment of the patient. The outcomes from the 4-month follow-up were reassuring. Conclusion: This study emphasizes the need of considering scleromyxedema as a connective tissue pathology in patients who have recently received Sinopharm vaccine and have similar cutaneous signs.

RESUMEN

Resumen El liquen mixedematoso (LM) representa un grupo de enfermedades cutáneas raras, el cual se encuentra dentro de las mucinosis crónicas. Anteriormente descrita como escleromixedema localizado, sin embargo, a diferencia de éste, por lo general no tiene compromiso sistémico. Dentro de los subtipos, se encuentra el LM atípico, el cual es infrecuente y hay pocos casos reportados asociados a mieloma múltiple (MM). Se presenta el caso de un paciente masculino con MM positivo para cadenas lambda, con cuadro clínico de inicio agudo, en quien se realizó diagnóstico de LM atípico; recibió manejo con corticoide tópico con mejoría de las lesiones al mes de tratamiento.

Abstract Lichen myxedematous (LM) represents a group of rare skin diseases, which is found within the chronic mucinoses. Previously described as localized scleromyxedema, however, unlike localized scleromyxedema, it usually does not have systemic involvement. Among the subtypes, there is atypical LM, which is infrequent and there are few reported cases associated with multiple myeloma (MM). We present the case of a male patient with MM positive for lambda chains, with acute onset clinical picture, who was diagnosed with atypical LM; he received management with topical corticosteroid with improvement of the lesions after one month of treatment.

RESUMEN

Arndt-Gottron (S-AG) syndrome or scleromyxedema is a scarce disease characterized by a generalized papular and sclerodermoid eruption and systemic manifestations that can lead to significant morbid-mortality. Interesting, S-AG can be associated with a paraprotein. We report an exceptional scleromyxedema case associated with a benign monoclonal gammapathy in an old woman.

RESUMEN

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.

RESUMEN

INTRODUCTION: Scleromyxedema is a rare primary cutaneous mucinosis characterized by numerous firm, waxy, confluent papules. Recently, intravenous immunoglobulin (IVIG) is accepted by many authors as the first-line treatment option for severe cases. We report a 69-year-old male patient who has been suffering from scleromyxedema, with reduced mouth opening. He has been on a high-dose IVIG regime for 5 years. METHODS: The patient stated that he had difficulty in wearing and removing his dentures because of reduced mouth opening lately. Before considering to add any other immunosuppressants to his regime, we injected 1500 IU of hyaluronidase in total in one session periorally. The patient has been told open his mouth maximum and photographs have been taken before injections and after one month. We used a photo measurement application when evaluating microstomia to increase accuracy. We also took punch biopsies in order to evaluate effect of hyaluronidase histopathologically before and one month after injections. RESULTS: One month later, he was able to reattach and remove his dentures without adding any adjuvant immunosuppressants other than hyaluronidase. Mouth opening was increased in measurements and histopathologically, mucin deposition, fibroblastic proliferation, and perivascular lymphocytic infiltration were decreased. CONCLUSIONS: We think hyaluronidase is a safe, easily accessible, and effective treatment option for microstomia caused by scleromyxedema.

Asunto(s)

RESUMEN

Scleromyxedema is a rare idiopathic fibromucinous disorder characterized by a generalized papular and sclerodermoid cutaneous eruption. Patients often have praraproteinemia and extracutaneous, even lethal, manifestations. Yet the prognostic and therapeutic features of scleromyxedema are poorly documented. High-dose intravenous immunoglobulin (IVIG), used either alone or in conjunction with systemic steroids and/or thalidomide, has been suggested as a first-line treatment. We report the case of a 45-year-old woman diagnosed with scleromyxedema with paraproteinemia that initially did not respond to systemic steroids, retinoids, and thalidomide but greatly improvement in terms of systemic and cutaneous symptoms after treatment with IVIG.

Asunto(s)

RESUMEN

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.

RESUMEN

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.

RESUMEN

BACKGROUND: Scleromyxedema is a rare, para-neoplastic, chronic, progressive condition of the Lichen myxedematosus (LM) family. The clinical picture consists of generalized confluent papular eruptions with possible systemic manifestations, which may be fatal as it still constitutes a therapeutic dilemma. Histologically, it is characterized by dermal mucin deposition, fibroblast proliferation with fibrosis, with monoclonal gammopathy in the absence of thyroid disease. Some atypical forms of the disease were reported in the literature, but none were reported in acute leukemia. CASE PRESENTATION: Herein, we report a case of a 21 years old female patient, known case of acute lymphoblastic leukemia (ALL), who developed numerous hyper-pigmented erythematous papules and plaques, mainly over her thighs, lower abdomen, and sub-mammary flexures. Histopathology of skin lesions confirmed the diagnosis of atypical scleromyxedema. Her symptoms significantly improved with the use of high dose intravenous immunoglobulin (IVIG). CONCLUSIONS: Despite that scleromyxedema is associated with many hematologic disorders, it is very rarely associated with acute lymphoblastic leukemia, and a high index of suspicion is needed for diagnosis. IVIG remains a reasonable management of such a disabling disease.

Asunto(s)

RESUMEN

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.