RESUMEN
Synovial sarcoma (SS) is a rare tumour of unknown origin with peak incidence between 10 and 35 years. Although it arises in juxta-articular location, SS is a misnomer and has no true relationship with synovium. In this case report, we present an elderly female patient with a long-standing history of thigh mass which was initially misdiagnosed as metastatic adenocarcinoma deposits on fine needle aspiration cytology, and again misdiagnosed as malignant adnexal skin tumour on core needle biopsy and referred for further management. Here, we discuss the challenges faced in the diagnosis of SS on a small biopsy and ways to differentiate it from other morphological mimickers. Therefore, we aim to increase the awareness of soft tissue tumours that microscopically appear like adenocarcinoma, which is a potential diagnostic pitfall. We also highlight the importance of morphological diagnosis and the utility of molecular testing using fluorescence in situ hybridisation, to arrive at the correct diagnosis of SS.
Asunto(s)
Adenocarcinoma , Sarcoma Sinovial , Humanos , Femenino , Anciano , Sarcoma Sinovial/diagnóstico , Sarcoma Sinovial/genética , Sarcoma Sinovial/patología , Biopsia con Aguja Fina , Adenocarcinoma/diagnóstico , Adenocarcinoma/genética , Proteínas de Fusión OncogénicaRESUMEN
The clinical presentation except age of onset is similar in different types of angioedema. A lymphoproliferative disorder like angioimmunoblastic T cell lymphoma (AITL) rarely presents with symptoms of angioedema. We present extremely rare case of elderly male with recurrent tongue swelling, pruritus with normal levels of complements and C1 esterase inhibitor protein featuring as acquired angioedema, a rare manifestation of AITL. Initial response to corticosteroids may be misleading and occurs as a result of immunosuppression of AITL. High index of suspicion may prompt need for histopathological diagnosis of lymph node biopsy. Definitive chemotherapeutic treatment may achieve long term remission.
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Background: Historically the conventional Pap smear has been an effective screening tool for Carcinoma cervix. However the reporting of benign and malignant endometrial cells on Pap smear has remained controversial. There are very few studies addressing the utility of Pap smears in diagnosing endometrial carcinomas. Objective: To rescreen the Pap smears of patients with endometrial adenocarcinoma for the detection of normal/ atypical endometrial cells and to correlate with clinico-pathological parameters. Methods: The present study was carried out at SDM College of Medical Sciences, Dharwad, Karnataka, India for a period of 7 years. Of the 89 endometrial cancers diagnosed, Pap smear slides were available in 32 patients, which were reviewed and classified as normal cells/ atypical cells. Corresponding biopsy slides were reviewed for tumour type, nuclear grade, myometrial invasion and stage. Statistical tests of independence were applied for selected clinico-pathological parameters. Results: Cervical cytology was normal in nine patients (28.1%) and atypical in 23 patients ( 71.2%). The most common histological type was endometrioid carcinoma in 27 cases (84%). 13 cases(40.5%) had nuclear grade 1 whereas 9 cases(28%) and 10 cases(31.2%) had grades 2 and 3, respectively. Of the 22 cases assessed for invasion and stage, 12 cases had <1/2 of invasion (41.2%) and remaining 10 cases had >1/2 of invasion (58.8%). Early stages (I and II) had 17 cases (77.27%) and advanced stage (III and IV )had 5 cases (23.5 %). Significant correlation was found between post-menopausal status and higher nuclear grades (p<0.05).Conclusion: Pap smear is primarily a screening test for squamous cell carcinoma cervix. If atypical glandular cells are seen, further investigations are required to rule out neoplasia. All women with atypical endometrial cells on Pap tests need endometrial sampling irrespective of age/menstrual status.
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Cytomegalovirus (CMV) pseudotumour of the gastrointestinal tract, is a rare benign entity which is treated with antiviral medications and known to resolve spontaneously in a few cases. This is a case report of a 58-year-old man who presented with right lower quadrant abdominal pain. Contrast enhanced computerized tomography of abdomen and pelvis showed apple core lesion involving proximal transverse colon, ceacum, ascending colon, ileoceacal valve and terminal ileum. Synchronous carcinoma of colon was suspected. At laparotomy, there was growth palpable only in the proximal transverse colon. Histological findings of biopsy specimen revealed CMV pseudotumour. CMV pseudo tumour should be included in the differential diagnosis of apple core lesions of the colon even in immunocompetent adults. Endoscopy and biopsy are strongly recommended before surgery in colonic mass lesions to make a definitive diagnosis and to avoid unnecessary surgery.
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Nodular fascitis is a benign, reactive, fiboproliferative lesion that is thought to represent an over exuberant reaction to injury or inflammation. Its histological picture is very similar to fibro sarcoma. An accurate diagnosis is imperative to avoid unnecessary aggressive treatment. It occurs most commonly in upper extremities, and rarely in the maxillofacial region. We present a case of aggressive intraosseous nodular fascitis of the mandible involving the vital structures in the neck in a 10 year old boy.
Asunto(s)
Lepra Lepromatosa/patología , Piel/patología , Vasculitis/patología , Anciano , Humanos , India , Lepra Lepromatosa/etiología , Masculino , Vasculitis/etiologíaAsunto(s)
Lepra Dimorfa/patología , Lepra Tuberculoide/patología , Psoriasis/patología , Adulto , Humanos , Lepra Dimorfa/complicaciones , Lepra Dimorfa/tratamiento farmacológico , Lepra Tuberculoide/complicaciones , Lepra Tuberculoide/tratamiento farmacológico , Masculino , Psoriasis/complicaciones , Psoriasis/tratamiento farmacológicoRESUMEN
The Chiari Malformation is a neural tube defect involving the posterior cranial fossa and the hind brain, characterized by herniation of the posterior fossa contents below the level of the foramen magnum. Four types were described by Hans Chiari in the late 19th century. Of these, Type III is exceedingly rare. We report the case of Chiari III malformation in a 24-week fetus by the integration of radiologic and autopsy findings which was conspicuous by the absence of high cervical spina bifida and the presence of occipital squama defect.
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Malformación de Arnold-Chiari/patología , Articulación Atlantoaxoidea/anomalías , Encefalocele/patología , Hueso Occipital/anomalías , Lóbulo Occipital/anomalías , Anomalías Múltiples , Malformación de Arnold-Chiari/diagnóstico por imagen , Resultado Fatal , Femenino , Edad Gestacional , Humanos , Recién Nacido , Radiografía , Enfermedades Raras , Mortinato , Adulto JovenRESUMEN
Meckel Gruber syndrome (MKS) is a lethal, autosomal, recessive, multisystemic disorder, associated with mutations affecting ciliogenesis. Since the time it was first reported; only 200 cases have been reported. From January 2004 to December 2010, we evaluated 268 fetal autopsies in our institute, in the Department of Pathology; two of these fetuses were diagnosed as MKS. MKS is characterized by occipital meningoencephalocele, cystic kidneys, postaxial polydactyly, and fibrosis in the liver. MKS cases show genetic heterogeneity. MKS results in 100% fetal or neonatal mortality. As MKS has a high risk (25%) of recurrence; parents should be counseled for future pregnancies.
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Osteonevus of Nanta is a rare histopathological finding in which there is an ectopic bone formation in intradermal nevus. Very few cases have been reported so far in the literature. We present a case of osteonevus of Nanta, which occurred as a nodule over the left eyebrow in a 52-year-old female patient. Simple excision proved to be curative in the present case.
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BACKGROUND: Inherited palmoplantar keratoderma are a rare group of disorder affecting the palm and sole characterised by hyperkeratosis resulting in severe disability and deformities. OBJECTIVE: To report a rare case of punctate palmoplantar keratoderma. METHOD: A case attending our OPD is reported. RESULT: Case report. CONCLUSION: This case is reported for its unique presentation and rarity.
Asunto(s)
Queratodermia Palmoplantar/genética , Biopsia , Humanos , Queratodermia Palmoplantar/patología , Masculino , Persona de Mediana Edad , Piel/patología , Adulto JovenRESUMEN
Graft-versus-host disease (GVHD) is a rare, almost always fatal complication of a blood transfusion. It occurs much more commonly after bone marrow transplantation, a setting in which it is less severe-mortality rate of 20-25% following transplantation versus 80-90% when associated with a transfusion. Transfusion associated GVHD occurs in two settings: when the recipient is immunodeficient; and when there is a specific type of partial HLA matching between the donor and recipient. Here we present a case of transfusion associated GVHD which developed when a 2 year old immunocompetent girl was given whole blood which was taken by his father. Inspite of very intense therapy with parental steroids and oral cyclosporine the child succumbed to death.
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Anemia/terapia , Enfermedad Injerto contra Huésped/etiología , Reacción a la Transfusión , Preescolar , Ciclosporina/administración & dosificación , Resultado Fatal , Padre , Femenino , Enfermedad Injerto contra Huésped/tratamiento farmacológico , Humanos , Inmunosupresores/administración & dosificación , Masculino , Esteroides/administración & dosificaciónRESUMEN
Nodular hidradenoma is an established entity as a skin adnexal tumor arising from eccrine sweat glands. A skin adnexal tumor located in the breast is unusual and is one of the differential diagnoses for subareolar breast nodules. With the exception of gynecomastia, other lesions of the male breast are not very common. The review of literature showed only 25 reported cases till date. The rarity of this neoplasm and failure to identify its morphologic features may lead to misdiagnosis. Being itself rare, cytological features of this lesion are hardly encountered in case reports. We report a case of an 18-year-old male who presented with a left breast lump and underwent fine needle aspiration and was diagnosed as having a benign skin adnexal tumor. Later it was confirmed by histopathology to be a nodular hidradenoma.
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Xeroderma pigmentosum is a genodermatosis characterized by photosensitivity and the development of cutaneous and internal malignancies at an early age. The basic defect underlying the clinical manifestations is a nucleotide excision repair defect, leading to defective repair of DNA damaged by ultraviolet radiation. These patients exhibit enhanced sensitivity to ionizing radiation. Patients with xeroderma pigmentosum who are younger than 20 years of age have a greater than 1000-fold increased risk of developing skin cancer. Early detection of these malignancies is necessary because they are fast growing, metastasize early and lead to death. Although, early detection and treatment of cutaneous malignancies will reduce the morbidity and mortality, genetic counseling remains the most important measure for preventing xeroderma pigmentosum. We report a case of xeroderma pigmentosum in an 18-year-old male presenting with multiple cutaneous malignancies: squamous cell carcinoma, malignant melanoma and pigmented basal cell carcinoma.
Asunto(s)
Carcinoma Basocelular/diagnóstico , Carcinoma de Células Escamosas/diagnóstico , Neoplasias de Cabeza y Cuello/diagnóstico , Melanoma/diagnóstico , Recurrencia Local de Neoplasia/patología , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Cutáneas/diagnóstico , Xerodermia Pigmentosa/diagnóstico , Adolescente , Carcinoma Basocelular/patología , Carcinoma de Células Escamosas/patología , Neoplasias de Cabeza y Cuello/patología , Neoplasias de Cabeza y Cuello/cirugía , Humanos , Masculino , Melanoma/secundario , Neoplasias Primarias Múltiples/patología , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/cirugía , Xerodermia Pigmentosa/patología , Xerodermia Pigmentosa/cirugíaRESUMEN
Primary synovial sarcoma (SS) of kidney is very rare and difficult to diagnose. Here, we present a case of a 21-year-old female clinically diagnosed as renal cell carcinoma. Right nephrectomy specimen showed a cystic tumor in the upper pole of kidney with areas of hemorrhage and solid growth. Histologically, it showed poorly differentiated cells with hemangiopericytoma-like vascular pattern. Morphologic and immunohistochemical features were compatible with the diagnosis of poorly differentiated SS of kidney. Primary renal SS is a recently described entity. To the best of our knowledge, approximately 34 cases have been reported till date and this is the eighth documented case of poorly differentiated variant. Most of the time, poorly differentiated SS of kidney exhibits hemangiopericytoma like histology. Reverse transcriptase-polymerase chain reaction analysis to demonstrate SYT-SSX fusion gene transcript helps to confirm the diagnosis.
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Iniencephaly is a rare neural tube defect characterized by extreme retroflexion of the head with the absence of neck due to spinal deformities. The important features that help us to diagnose a case of iniencephaly are occipital bone deficit leading to enlarged foramen magnum, fusion of malformed cervical and thoracic vertebrae, and upward turned face with chin continuous with chest because of the absence of neck. The differential diagnoses include anencephaly with spinal retroflexion, Klippel-Fiel syndrome, nuchal tumors such as teratoma, goiter, and lymphangioma and Jarcho-Levin syndrome. Previously many case reports on radiological features of iniencephaly are published, but there are very few articles on necropsy findings and differential diagnosis. In the present case we have discussed in detail the necropsy findings of iniencephaly clausus with special reference to differential diagnosis.
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A 23 year old Asian female presented with swelling of right knee joint for 5 years with history of exacerbations and remissions of symptoms. She was initially diagnosed as a case of suprapatellar bursitis based on clinical and X-ray findings. Further evaluation with higher imaging modalities was pathognomonic of lipoma arborescens. Patient underwent synovectomy and the diagnosis was confirmed histologically. We describe a histologically proven case of lipoma arborescens to highlight the imaging findings on X-ray, Ultrasound and Magnetic resonance imaging with arthroscopic correlation. The unique feature of this case report is multimodality imaging correlation with arthroscopy and histopathology findings. We have highlighted the pathognomonic imaging findings of this rare but benign intra-articular lesion and also discussed the differential diagnosis in detail.