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Objective@#To investigate the clinicopathological characteristics, imaging manifestations, genetic manifestations, diagnosis and treatment of juvenile hyaline fibromatosis.@*Methods @# A case of juvenile hyaline fibromatosis was reported, and the patient's clinical manifestations, imaging examinations, histopathological examinations, genetic changes and treatment were summarized and analyzed.@*Results @#Juvenile hyaloid fibromatosis is more common in infants and children. This patient had typical clinical and pathological manifestations, including posterior occipital masses, skin and subcutaneous nodules, gum hyperplasia, joint contractures, and joint osteolytic lesions. The histopathological lesions were characterized by the proliferation of spindle cells in the tissue accompanied by a large amount of amorphous transparent matrix. Genetic testing was performed to confirm an ANTXR2 gene mutation, consistent with the known genetic changes of juvenile hyaline fibromatosis. The 6-month follow-up of the patient showed that there was no obvious recurrence after resection of the gum and facial mass. In addition to surgery, the treatment of this disease requires multidisciplinary symptomatic treatment combined with rehabilitation and supportive treatment to achieve a better prognostic effect.@*Conclusion@# Juvenile hyaline fibromatosis is a rare nonneoplastic autosomal recessive genetic disease. Mutations in the ANTXR2 gene lead to disorders of collagen synthesis and metabolism in the tissues and further cause subcutaneous nodules, gingival hyperplasia, joint contractures and bone dissolution.
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RESUMEN Antecedentes: La cisticercosis es una infección parasitaria causada por la TaeniaSolium. Puede presentar una forma diseminada con compromiso sistémico. Clínicamente, la cisticercosis diseminada puede debutar con la presencia de nódulos subcutáneos. Presentamos un caso de diagnóstico de cisticercosis diseminada con la presencia de nódulos subcutáneos y síntomas respiratorios como única fuente de sospecha de enfermedad. Caso: Se presenta el caso de un paciente varón de 76 años de edad procedente de una región del Centro del Perú que acude a emergencia por hemoptisis, baja de peso y astenia de un año de evolución. Presentaba además nódulos subcutáneos no dolorosos, móviles en miembros superiores, inferiores, tórax, abdomen, cuello y cara. En la biopsia se demostró la presencia de cisticercocelullosae. Fue tratado con albendazol 400mg cada 12 horas por 6 meses, con evolución favorable. Conclusión: La cisticercosis es una enfermedad prevalente en nuestro país. Su presentación diseminada, sin embargo, no es tan frecuente. El diagnóstico puede ser difícil y a veces permanecer oculto, pues la clínica varía de silente a formas graves, dependiendo del órgano afectado, que en una forma diseminada pueden ser múltiples los órganos afectados, como el caso de nuestro paciente. Se concluye que las presencias de nódulos subcutáneos deben hacernos pensar en la posibilidad de formas diseminadas de cisticercosis.
ABSTRACT: Cysticercosis is a parasitic infection caused by Taenia Solium. It can be present as a disseminated form with systemic compromise. Disseminated cysticercosis may clinically debut with the presence of subcutaneous nodules. We present a case of diagnosis of disseminated cysticercosis with the presence of subcutaneous nodules and respiratory symptoms as the only source of suspected disease. Case: We present the case of a 76-year-old male patient from a region of central Peru who came to emergency due to hemoptysis, low weight and asthenia of one year of evolution. It also presented subcutaneous nodules that were painless, mobile in upper and lower limbs, abdomen, neck and face, the biopsy demonstrated with the presence of cysticercuscelullosae. He was treated with albendazole 400mg every 12h for 6 months, with favorable evolution. Conclusion: Cysticercosis is a prevalent disease in our country. Its disseminated presentation, however, is not as frequent. Diagnosis can be difficult and sometimes remain hidden, as the clinic varies from silent to severe, depending on the affected organ, which in a disseminated form can be multiple, as in the case of our patient. We conclude that the presence of subcutaneous nodules should make us think about the possibility of disseminated forms of cysticercosis.
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Abstract Sporotrichosis is the most prevalent subcutaneous mycosis and is characterized by a subacute or chronic development of a cutaneous or subcutaneous nodular lesion. It is caused by the dimorphic fungus Sporothrix spp, which may manifest in different clinical forms. The disseminated cutaneous form is uncommon and is more likely to occur in immunocompromised patients. We report a 47-year-old male patient with multiple cutaneous and subcutaneous nodules. The patient was diagnosed with disseminated cutaneous sporotrichosis based on the isolation and identification of Sporothrix spp. The patient was treated with potassium iodide, which resulted in clinical improvement of the lesions.
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Humanos , Masculino , Esporotricosis/diagnóstico , Alcoholismo/complicaciones , Yoduro de Potasio/uso terapéutico , Esporotricosis/complicaciones , Esporotricosis/tratamiento farmacológico , Persona de Mediana EdadRESUMEN
El granuloma anular es una dermatosis inflamatoria granulomatosa de carácter benigno y autolimitado. El granuloma anular subcutáneo es una variante poco común, que se presenta casi exclusivamente en niños menores y se caracteriza por la aparición de nódulos de consistencia firme de predominio en extremidades inferiores, glúteos, manos y cuero cabelludo. OBJETIVO: Reportar un caso de granuloma anular subcutáneo, revisar su diagnóstico diferencial y las opciones terapéuticas actuales. CASO CLÍNICO: Paciente de sexo masculino de 4 años. Desde los 2 años y medio con nódulos subcutáneos indurados asintomáticos, inicialmente en dorso de dedo medio mano izquierda, luego en dorso de mano izquierda, primer ortejo derecho, zona frontal izquierda y cuero cabelludo. La biopsia excisional de algunas lesiones de cuero cabelludo fue compatible con granuloma anular subcutáneo. Como tratamiento se indicó clobetasol 0,05% crema 2 veces al día en lesiones por 1 mes, sin cambio en las lesiones. CONCLUSIONES: El granuloma anular subcutáneo debe considerarse dentro del diagnóstico diferencial de nódulos subcutáneos en niños. En la mayoría de los casos se requerirá biopsia y estudio histopatológico de las lesiones para su confirmación diagnóstica. Debido a su tendencia a la resolución espontánea, generalmente se sugiere no tratar y controlar periódicamente.
Granuloma annulare is a benign and self-limited cutaneous disease. Subcutaneous granuloma annulare is an uncommon variant seen almost exclusively in young children, characterized by firm nodules appearing more frequently in lower extremities, buttocks, hands and scalp. OBJECTIVE: To report a case of subcutaneous granuloma annulare and review its differential diagnoses and treatments. CLINICAL CASE: A 4 year-old male patient. Since 2 and a half years of age he presented asymptomatic firm subcutaneous nodules on the back of the left middle finger and later on the back of the left hand, right big toe, left frontal area and scalp. Excisional biopsy of some lesions from the scalp was consistent with subcutaneous granuloma annulare. Clobetasol 0,05% cream twice a day for 1 month was prescribed without response. CONCLUSIONS: Subcutaneous granuloma annulare must be considered within the differential diagnosis of subcutaneous nodules in children. In most of the cases a biopsy and histopathology of the lesions will be required to confirm the diagnosis. Due to its tendency to spontaneous resolution, treatment often is not necessary and periodic evaluation is recommended.
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Humanos , Masculino , Preescolar , Granuloma Anular/diagnóstico , Cuero Cabelludo , Dedos del Pie , Diagnóstico Diferencial , ManoRESUMEN
Zoonotic filariasis due to Dirofilaria repens is prevalent in several regions of the world. Human dirofilariasis due to D. repens has not been widely recognized in India, but few cases reported from some parts of India. Dirofilaria species are commonly encountered in the subcutaneous tissue of dogs, foxes, and cats and it can accidentally infect humans. Here, we report a case of subcutaneous dirofilariasis, presenting as a subcutaneous nodule on the right leg of a 25-year old female from Vidarbha region.
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BACKGROUND: Ultrasonography is an important diagnostic tool for many aspects of clinical medicine. It is a non-invasive method of examination that provides high-resolution images in real time. However, some dermatologists may be anxious about the efficacy of ultrasonography. OBJECTIVE: To evaluate the diagnostic accuracy and to assess the utility of diagnostic ultrasonography for subcutaneous benign lesions. METHODS: The study included 96 patients with subcutaneous benign lesions who underwent ultrasonography and then received a pathologic diagnosis after biopsy or surgery at our hospital from July 2010 to December 2012. This study evaluated the number of cases in which the preoperative diagnosis after ultrasonography or just after physical examination agreed to the pathologic diagnosis. RESULTS: Ultrasonography significantly increased the diagnostic yield of subcutaneous benign lesions (after physical examination, 54.2%; after ultrasonography, 84.4%; p<0.001). The sensitivity for the diagnosis of lipoma (after physical examination, 70%; after ultrasonography, 92.5%; p<0.001) and the specificity for the diagnosis of epidermal cyst (after physical examination, 84.1%; after ultrasonography, 94.2%; p<0.001) significantly increased after ultrasonography. The sensitivity for the diagnosis of epidermal cyst and pilomatricoma also tended to increase after ultrasonography. CONCLUSION: The study results suggested that ultrasonography is useful for diagnosis and/or preoperative examination of subcutaneous benign lesions.
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Humanos , Biopsia , Medicina Clínica , Quiste Epidérmico , Lipoma , Examen Físico , Pilomatrixoma , Sensibilidad y Especificidad , Estadística como AsuntoRESUMEN
En los últimos años se ha incrementado la utilización de sustancias de relleno facial con fines estéticos. Estos productos, originalmente considerados inertes, se asocian con diversos efectos adversos localizados alrededor del sitio de la aplicación. Describimos a 5 mujeres con antecedentes de inyecciones de sustancia de relleno facial que presentaron como síntoma inicial angioedema facial duro y persistente seguido por la aparición de nódulos subcutáneos. Todas las pacientes fueron derivadas al servicio de alergia por sospecha de angioedema de causa alérgica sin respuesta al tratamiento con antihistamínicos. El angioedema inició 27.6 meses (1 a 48) luego de la inyección del producto, y las pacientes evolucionaron con brotes y remisiones que fueron tratados con corticoides orales y en 2 oportunidades con inyecciones locales. El tiempo medio desde el inicio de los síntomas hasta la remisión del angioedema fue 8.75 meses (1 a 24). A octubre de 2009 cuatro pacientes se mantuvieron en remisión persistente, luego de un seguimiento clínico de 24.5 meses (7 a 36). Una paciente continúa con exacerbaciones luego de 11 meses de iniciados los síntomas. Las sustancias de relleno facial pueden producir angioedema como evento adverso y deben ser consideradas en el diagnóstico diferencial del angioedema persistente. Sólo responden al tratamiento con esteroides y en algunos casos esteroides dependientes, con ciclosporina. La frecuencia de angioedema por rellenos faciales entre pacientes con angioedema asistidos en la Unidad de Asma, Alergia e Inmunología Clínica fue del 0.5%.
The use of fillers for cosmetic purposes is becoming increasingly frequent. Although initially considered inert, these products produce adverse reactions around the injection site. We present 5 cases of women with a history of filler injections who presented a hard and persistent angioedema followed by local subcutaneous nodules . They were referred to the allergist for suspected allergy related angioedema without response to usual antihistamine treat¬ment. The angioedema episodes initiated 27.6 months (range 1 to 48) after the fillers treatment. The patients underwent exacerbations and remissions of angioedema, partially releived with oral steroids and, in 2 cases, local triamcinolone injections. Mean time from onset of symptoms to remission of angioedema was 8.75 months (range 1to 24). Until October 2009 four patients continued into remission after 24.5 months (range 7 to 36) free of symptoms. One patient continued with exacerbations 11months after the initial symptoms. Fillers may cause angioedema as an adverse event and should be considered in the differential diagnosis of persistent angioedema. They are only sensitive to steroid treatment and in some steroid dependent cases they respond to ciclosporin. The frequency of angioedema after filler injections among patients with angioedema in the Unit of Asthma Allergy and Clinical Immunology was 0.5%.
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Adulto , Anciano , Femenino , Humanos , Persona de Mediana Edad , Angioedema/patología , Técnicas Cosméticas/efectos adversos , Dermatosis Facial/patología , Tejido Subcutáneo/patología , Angioedema/tratamiento farmacológico , Angioedema/etiología , Técnicas Cosméticas/clasificación , Diagnóstico Diferencial , Dermatosis Facial/tratamiento farmacológico , Dermatosis Facial/etiología , Inyecciones Subcutáneas , Inducción de Remisión , Ritidoplastia , Esteroides/uso terapéutico , Factores de TiempoRESUMEN
A associação de poliartrite, nódulos subcutâneos e carcinoma de pâncreas é uma condição rara e pouco diagnosticada. O presente trabalho tem o objetivo de relatar um caso de carcinoma pancreático associado a poliartrite e nódulos subcutâneos, semelhantes ao eritema nodoso, cujo exame histopatológico evidenciou tratar-se de paniculite com necrose gordurosa. Os autores pretendem, por meio deste relato, lembrar essa associação incomum que se torna de grande importância clínica, considerando que artrite e nódulos subcutâneos podem anteceder as manifestações clínicas de neoplasia pancreática.
The association of polyarthritis, subcutaneous nodules and carcinoma of the pancreas is a rare and underdiagnosed condition. The present work aims to report a case of a patient with carcinoma of pancreas associated with polyarthritis and subcutaneous nodules, similar to erythema nodosum, with histopathological findings of panniculitis with fat necrosis. The authors emphasize the importance of this uncommon association, considering that polyarthritis and subcutaneous nodules may appear before the clinical manifestations of the carcinoma of the pancreas.
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Humanos , Masculino , Persona de Mediana Edad , Artritis , Neoplasias Pancreáticas , Paniculitis , Paniculitis de Lupus EritematosoRESUMEN
The sonographie diagnosis of suhcutaneoyus nodules caused by lupg flukes in ten cases from the mountainous area of Xiangxi was reported.According to their ultrasonographic features,these nodules could be divided into three types:the substantial(one case),anechoic(two cases),and mixed type(seven cases).The sonographic characteristics,the pathotogic stages and the cytology of the subcutaneous nodules caused by lung fluke these cases were discussed.
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We report herein a case of subcutaneous granuloma annulare occured in a 3-year-old girl who had 7 subcutaneous nodules on the scalp, lumbar area, buttock, right tibial area and both ankles. liistopathologically, multiple foci of complete and incomplete collagen degeneration surrounded by histiocytes in a palisading arrangement were seen in the subcutaneous layer. Some vessel walls were thickened and infiltrated with inflammatory cells and many eosinophils were scattered among the inflamrnatory cell infiltrate around the palisaiing granuloma. Five of the lesions disappeared spontaneously and other s decreased in size without specific treatment in 2 months.