Assuntos
Gamopatia Monoclonal de Significância Indeterminada/complicações , Escleromixedema/diagnóstico , Administração Cutânea , Administração Oral , Idoso , Biópsia , Glucocorticoides/administração & dosagem , Humanos , Japão , Masculino , Gamopatia Monoclonal de Significância Indeterminada/diagnóstico , Gamopatia Monoclonal de Significância Indeterminada/tratamento farmacológico , Escleromixedema/tratamento farmacológico , Escleromixedema/etiologia , Escleromixedema/patologia , Pele/patologia , Resultado do TratamentoAssuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Dexametasona/administração & dosagem , Melfalan/administração & dosagem , Paraproteinemias/tratamento farmacológico , Escleromixedema/tratamento farmacológico , Talidomida/administração & dosagem , Adulto , Idoso , Feminino , Humanos , Imunoglobulina G/metabolismo , Quimioterapia de Manutenção , Masculino , Pessoa de Meia-Idade , Paraproteinemias/complicações , Estudos Retrospectivos , Escleromixedema/etiologia , Resultado do TratamentoRESUMO
BACKGROUND: Autoimmune polyglandular syndrome type 2 represents an uncommon endocrine disorder composed by Addison's disease with autoimmune thyroid disease (Schmidt's syndrome) and/or type 1 diabetes mellitus. Scleromyxedema is a rare progressive cutaneous mucinosis usually associated with systemic involvement and paraproteinemia. To the best of our knowledge, there is no case report of Schmidt's syndrome associated with scleromyxedema. CASE DETAILS: A 34-year-old woman was admitted to Donetsk Clinical Territorial Medical Association due to acute general weakness, reduced vision, dryness of integuments, memory decline, fatigue, weight loss, rash on the face trunk and extremities. A diagnosis of APS type II was made comprising of autoimmune hypothyroidism and autoimmune adrenal insufficiency. Skin histopathologic examination demonstrated the presence of mucin deposits, dermal fibrosis, fibrocytes and perivascular inflammation. In the absence of monoclonal paraproteinemia and the presence of typical histological and clinical signs, an atypical form of scleromyxedema was diagnosed. The patient was administered a lifetime replacement levothyroxine and methylprednisolone therapy. CONCLUSION: Identification and adequate treatment of both APS type II and scleromyxedema in affected patients pose a problem due to the lack of facilities for diagnosis and management plus common misdiagnosis. Early diagnosis should be made before the development of life-threatening complications.
Assuntos
Poliendocrinopatias Autoimunes/complicações , Escleromixedema/etiologia , Adulto , Feminino , HumanosRESUMO
Localized papular mucinosis is a type of mucinosis induced by several different causes. However, to the best of our knowledge, prior radiation therapy has not been reported to be related to papular mucinosis. We present a case of a 47-year-old woman who had undergone an operation for a breast carcinoma 2 years earlier and received local radiotherapy in the affected breast. Currently, she presents multiple erythematous papules that are caused by abundant dermal mucin deposits. We discuss some potential differential diagnoses.
Assuntos
Neoplasias da Mama/radioterapia , Lesões por Radiação/etiologia , Escleromixedema/etiologia , Neoplasias da Mama/cirurgia , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-Idade , Lesões por Radiação/diagnóstico , Lesões por Radiação/patologia , Escleromixedema/diagnóstico , Escleromixedema/patologiaRESUMO
The skin is often a window to systemic disease that is available to the trained eye of the dermatologist. Herein, we focus on four dermatoses with associated systemic conditions of interest: scleromyxedema and monoclonal gammopathy, nephrogenic systemic fibrosis in the setting of renal insufficiency, dermatitis herpetiformis and celiac disease, and psoriasis as a risk factor for cardiovascular disease. Dermatologists can play a crucial role in recognizing the cutaneous manifestations linked with these conditions. Identifying the related underlying disorder will contribute to appropriate diagnosis and improved management.
Assuntos
Doenças Cardiovasculares/complicações , Doença Celíaca/complicações , Dermatite Herpetiforme/etiologia , Dermopatia Fibrosante Nefrogênica/etiologia , Paraproteinemias/complicações , Psoríase/etiologia , Insuficiência Renal/complicações , Escleromixedema/etiologia , HumanosRESUMO
The scleromyxedema is a rare condition characterized by hyperproliferation of fibroblasts with increased dermal deposition of mucin and frequently associated with monoclonal gammopathy of undetermined significance. Various treatments have been reported, with inconsistent results. In addition, the rarity of the disease and the lack of randomized controlled trials results in treatment options derived from anecdotal reports. We describe the case of a 52 year-old female patient diagnosed with scleromyxedema who developed a monoclonal gammopathy, with adequate response to thalidomide. The follow up of these patients is important due to the risk of progression to multiple myeloma and complications related to systemic treatments.
Assuntos
Imunossupressores/uso terapêutico , Escleromixedema/tratamento farmacológico , Talidomida/uso terapêutico , Feminino , Humanos , Pessoa de Meia-Idade , Paraproteinemias/complicações , Paraproteinemias/diagnóstico , Escleromixedema/etiologiaRESUMO
El escleromixedema es una enfermedad poco frecuente caracterizada por una hiperproliferación de fibroblastos con depósito dérmico incrementado de mucina, que en la mayoría de los casos se asocia con una gammapatía monoclonal de significado incierto. Han sido comunicados diversos tratamientos, con resultados inconsistentes. Esto, sumado a la rareza de la enfermedad y a la falta de ensayos clínicos controlados aleatorios, da lugar a opciones terapéuticas derivadas de informes anecdóticos. Se describe el caso de una paciente de 52 años con diagnóstico de escleromixedema que desarrolló una gammapatía monoclonal, tratada con talidomida con buena respuesta clínica y de laboratorio. Es importante remarcar la necesidad de realizar un seguimiento clínico a largo plazo en estos pacientes, por el riesgo de evolución hacia mieloma múltiple y aparición de complicaciones relacionadas con los tratamientos sistémicos.
The scleromyxedema is a rare condition characterized by hyperproliferation of fibroblasts with increased dermal deposition of mucin and frequently associated with monoclonal gammopathy of undetermined significance. Various treatments have been reported, with inconsistent results. In addition, the rarity of the disease and the lack of randomized controlled trials results in treatment options derived from anecdotal reports. We describe the case of a 52 year-old female patient diagnosed with scleromyxedema who developed a monoclonal gammopathy, with adequate response to thalidomide. The follow up of these patients is important due to the risk of progression to multiple myeloma and complications related to systemic treatments.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Imunossupressores/uso terapêutico , Escleromixedema/tratamento farmacológico , Talidomida/uso terapêutico , Paraproteinemias/complicações , Paraproteinemias/diagnóstico , Escleromixedema/etiologiaRESUMO
El escleromixedema es una enfermedad poco frecuente caracterizada por una hiperproliferación de fibroblastos con depósito dérmico incrementado de mucina, que en la mayoría de los casos se asocia con una gammapatía monoclonal de significado incierto. Han sido comunicados diversos tratamientos, con resultados inconsistentes. Esto, sumado a la rareza de la enfermedad y a la falta de ensayos clínicos controlados aleatorios, da lugar a opciones terapéuticas derivadas de informes anecdóticos. Se describe el caso de una paciente de 52 años con diagnóstico de escleromixedema que desarrolló una gammapatía monoclonal, tratada con talidomida con buena respuesta clínica y de laboratorio. Es importante remarcar la necesidad de realizar un seguimiento clínico a largo plazo en estos pacientes, por el riesgo de evolución hacia mieloma múltiple y aparición de complicaciones relacionadas con los tratamientos sistémicos.(AU)
The scleromyxedema is a rare condition characterized by hyperproliferation of fibroblasts with increased dermal deposition of mucin and frequently associated with monoclonal gammopathy of undetermined significance. Various treatments have been reported, with inconsistent results. In addition, the rarity of the disease and the lack of randomized controlled trials results in treatment options derived from anecdotal reports. We describe the case of a 52 year-old female patient diagnosed with scleromyxedema who developed a monoclonal gammopathy, with adequate response to thalidomide. The follow up of these patients is important due to the risk of progression to multiple myeloma and complications related to systemic treatments.(AU)
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Imunossupressores/uso terapêutico , Escleromixedema/tratamento farmacológico , Talidomida/uso terapêutico , Paraproteinemias/complicações , Paraproteinemias/diagnóstico , Escleromixedema/etiologiaRESUMO
The scleromyxedema is a rare condition characterized by hyperproliferation of fibroblasts with increased dermal deposition of mucin and frequently associated with monoclonal gammopathy of undetermined significance. Various treatments have been reported, with inconsistent results. In addition, the rarity of the disease and the lack of randomized controlled trials results in treatment options derived from anecdotal reports. We describe the case of a 52 year-old female patient diagnosed with scleromyxedema who developed a monoclonal gammopathy, with adequate response to thalidomide. The follow up of these patients is important due to the risk of progression to multiple myeloma and complications related to systemic treatments.
Assuntos
Imunossupressores/uso terapêutico , Escleromixedema/tratamento farmacológico , Talidomida/uso terapêutico , Feminino , Humanos , Pessoa de Meia-Idade , Paraproteinemias/complicações , Paraproteinemias/diagnóstico , Escleromixedema/etiologiaAssuntos
Ácidos Borônicos/uso terapêutico , Dexametasona/uso terapêutico , Neoplasias de Plasmócitos/complicações , Pirazinas/uso terapêutico , Escleromixedema/tratamento farmacológico , Escleromixedema/etiologia , Talidomida/uso terapêutico , Antineoplásicos/administração & dosagem , Antineoplásicos/uso terapêutico , Ácidos Borônicos/administração & dosagem , Bortezomib , Dexametasona/administração & dosagem , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias de Plasmócitos/tratamento farmacológico , Pirazinas/administração & dosagem , Escleromixedema/patologia , Talidomida/administração & dosagemRESUMO
BACKGROUND: Papular mucinosis is characterized by primary reticular dermal mucin deposition in the absence of any thyroid abnormalities. There is extensive clinical variety in this disease, from benign localized forms to generalized forms, on occasion lethal. The current classification was established in 1991 in order to allow identification of these generalized forms of the disease and help ensure a better therapeutic approach. We report the case of a patient with atypical papular mucinosis having initial histological features consistent with granuloma annulare. PATIENTS AND METHODS: A 55-year-old man consulted for a papular eruption of the hands. A diagnosis of granuloma annulare was initially made because of misleading histological findings. However, the eruption spread to the inner thighs and the hypogastric area despite dermocorticoid therapy. Laboratory evaluation showed a monoclonal gammopathy. Further biopsies revealed diffuse dermal mucin deposits. We finally concluded on atypical localized papular mucinosis. DISCUSSION: Papular mucinosis is a rare disease and its physiopathology remains to be elucidated. The diagnostic criteria are sometimes inadequate, and its classification includes both atypical and intermediate forms. Our case belongs to the latter class because of its extensive and unusual topography, and its association with a monoclonal gammopathy. Although granuloma annulare is not a classical differential diagnosis, two other cases with similar histological findings have already been published.
Assuntos
Erros de Diagnóstico , Granuloma Anular/diagnóstico , Dermatoses da Mão/diagnóstico , Paraproteinemias/complicações , Escleromixedema/diagnóstico , Biópsia , Colágeno/análise , Derme/patologia , Progressão da Doença , Eosinofilia/etiologia , Fibroblastos/patologia , Dermatoses da Mão/etiologia , Dermatoses da Mão/patologia , Humanos , Cadeias lambda de Imunoglobulina/análise , Masculino , Pessoa de Meia-Idade , Paraproteinemias/sangue , Paraproteinemias/diagnóstico , Paraproteínas/análise , Escleromixedema/classificação , Escleromixedema/etiologia , Escleromixedema/patologiaRESUMO
Scleroderma is a rare systemic autoimmune disease with multiple organ manifestations, including skin fibrosis. The groups of disorders classified as scleroderma mimics share the common thread of skin thickening but are otherwise quite incongruous in terms of underlying disease process and other organ involvement. This article reviews the clinical presentation, etiology, and treatment options available for scleroderma mimics, including morphea, scleredema, diabetic cheiroarthropathy, scleromyxedema, nephrogenic systemic fibrosis, and eosinophilic fasciitis. Through greater understanding of these diseases and the associated extradermal implications, we hope to facilitate recognition of scleroderma and its mimics.
Assuntos
Eosinofilia/diagnóstico , Fasciite/diagnóstico , Dermopatia Fibrosante Nefrogênica/diagnóstico , Escleredema do Adulto/diagnóstico , Esclerodermia Localizada/diagnóstico , Escleromixedema/diagnóstico , Diagnóstico Diferencial , Eosinofilia/etiologia , Eosinofilia/terapia , Fasciite/etiologia , Fasciite/terapia , Humanos , Dermopatia Fibrosante Nefrogênica/etiologia , Dermopatia Fibrosante Nefrogênica/terapia , Escleredema do Adulto/etiologia , Escleredema do Adulto/terapia , Esclerodermia Localizada/etiologia , Esclerodermia Localizada/terapia , Escleromixedema/etiologia , Escleromixedema/terapiaRESUMO
The cutaneous focal mucinoses are a group of connective tissue disorders characterized by deposition of mucin found either focally or diffusely in the dermis. A 47-year-old woman presented with asymptomatic flesh-colored papules on the neck, inguinal area, intergluteal area, vulvar area, and extremities of 5 months' duration. There was no history of preceding trauma or insect bites. The patient had undergone a subtotal thyroidectomy 21 years prior but had not used any thyroid medication before she was referred to our clinic. Thyroid ultrasonography was consistent with Hashimoto thyroiditis. During dermatologic examination, flesh-colored, well-defined, smooth papules that measured approximately 1.5 x 1 cm in size on the genital region, fingers, face, and scalp were seen. Histopathologic examination of a lesional biopsy revealed no abnormalities in the epidermis. Alcian blue staining showed that abundant deposits of dermal mucin had replaced collagen in the dermis.
Assuntos
Doença de Hashimoto/complicações , Escleromixedema/patologia , Azul Alciano , Biópsia , Colágeno/metabolismo , Derme/metabolismo , Feminino , Doença de Hashimoto/diagnóstico , Doença de Hashimoto/diagnóstico por imagem , Humanos , Pessoa de Meia-Idade , Mucinas/metabolismo , Escleromixedema/diagnóstico , Escleromixedema/etiologia , UltrassonografiaRESUMO
BACKGROUND: Scleromyxoedema is a rare disorder of unknown pathogenesis that is very difficult to treat. We report a case resistant to corticosteroid treatment but controlled by intravenous gammaglobulin (IVIG). CASE REPORT: A 60-year-old woman presented progressive generalized papular eruption with infiltrated and itchy lesions of between 2 and 5mm in diameter. Otherwise, the clinical examination was normal. Monoclonal gammopathy of the IgG lambda type was found. Histology confirmed the diagnosis of scleromyxoedema. The disease continued to progress despite oral corticosteroids (0.5mg/kg per day). Thalidomide was introduced but was discontinued after 2 months due to side effects. Treatment comprising six monthly infusions of IVIG (2g/kg on 5 days) resulted in a marked reduction (>50%) in lesions. Two months after discontinuation of IVIG, recurrence was observed and maintenance infusions of IVIG every 6 weeks were needed to control the disease. DISCUSSION: The course of scleromyxoedema is unpredictable and treatment is extremely difficult. Successful therapy with IGIV has been reported but this approach seems to afford only temporary relief and maintenance infusions are required, as confirmed by the initial efficacy of treatment in our patient and the rapid recurrence of lesions following withdrawal.
Assuntos
Imunoglobulinas Intravenosas/uso terapêutico , Imunossupressores/uso terapêutico , Paraproteinemias/complicações , Escleromixedema/tratamento farmacológico , Corticosteroides/uso terapêutico , Resistência a Medicamentos , Feminino , Humanos , Imunoglobulina G/sangue , Cadeias lambda de Imunoglobulina/sangue , Síndrome Metabólica/complicações , Pessoa de Meia-Idade , Mucinas/análise , Paraproteinemias/diagnóstico , Paraproteínas/análise , Indução de Remissão , Escleromixedema/etiologia , Pele/química , Pele/patologia , Talidomida/uso terapêuticoRESUMO
Leukemias and Lymphomas can present in indolent and surprisingly unusual manners. Although uncommon, follicular lesions such as eosinophilic folliculitis have been reported in association with leukemia. However, follicular and papular mucinosis are novel associations for chronic myelomonocytic leukemia.
Assuntos
Foliculite/etiologia , Leucemia Mielomonocítica Crônica/complicações , Mucinose Folicular/etiologia , Escleromixedema/etiologia , Idoso , Foliculite/patologia , Humanos , Achados Incidentais , Leucemia Mielomonocítica Crônica/diagnóstico , Masculino , Mucinose Folicular/patologia , Escleromixedema/patologiaRESUMO
A 37-year-old male developed facial papules 6 months post renal-pancreatic transplant. Histological findings were consistent with localized papular mucinosis; electrophoresis showed no paraprotein. A trial of erbium and aura lasers, at ablative doses, produced no improvement. Independent treatments with oral doxycycline, itraconazole, acitretin, and isotretinoin also had no effect. The facial papules improved spontaneously, 2 years after first presentation and 8 months after treatment ceased. The patient remains clear of lesions.