scholarly journals Dysplasia epiphysealis hemimelica: A case report

2014 ◽  
Vol 71 (11) ◽  
pp. 1081-1084
Author(s):  
Dalibor Jovanovic ◽  
Milena Ilic ◽  
Milos Milosavljevic ◽  
Zorica Mihajlovic ◽  
Radisa Vojinovic ◽  
...  

Introduction. Dysplasia epiphysealis hemimelica, also known as Trevor?s disease, is an extremely rare skeletal developmental disorder of unknown etiology, characterized by an osteocartilaginous outgrowth of one or more epiphyses or of a tarsal bone during childhood. Case report. We presented a sporadic case of dysplasia epiphysealis hemimelica developed in the talus. A 6- year-old boy complained of swelling of his right ankle joint, with painful and reduced movements. Radiographies suggested excessive overgrowth of the dorsomedial aspect of the talus. The tumor was surgically excised and the gross and histological findings were consistent with those of osteochondroma. Conclusion. Dysplasia epiphysealis hemimelica is diagnosed by clinical, radiographic and histopathological examination. Early diagnosis is important for the condition to be treated before the deformity becomes disabling.

Author(s):  
Sameer Peer ◽  
Vivek Murumkar ◽  
Karthik Kulanthaivelu ◽  
Chandrajit Prasad ◽  
Shilpa Rao ◽  
...  

Abstract Background Diffuse leptomeningeal glioneuronal tumor (DLGNT) has been recently described in the literature. The complete neuroimaging spectrum and histopathological characteristics of this entity are yet to be elucidated. In an endemic region, diffuse leptomeningeal enhancement on neuroimaging with associated communicating hydrocephalus is usually suggestive of infective meningitis and the patients are started on empirical anti-microbial therapy. However, it is important to consider other differential diagnosis of leptomeningeal enhancement in such cases, particularly if the clinical condition does not improve on anti-microbial therapy. An early diagnosis of a neoplastic etiology may be of particular importance as the treatment regimens vary considerably depending on the underlying disease condition. Case presentation In this case report, we describe a case of DLGNT with high-grade histopathological features which was initially managed as tubercular meningitis based on the initial neuroimaging findings. Due to worsening of the clinical course and subsequent imaging findings at follow-up, a diagnosis of DLGNT was considered and subsequently proven to be DLGNT with features of anaplasia on histopathological examination of leptomeningeal biopsy specimen. Conclusion This case highlights the importance of recognizing certain subtle finding on MRI which may help in an early diagnosis of DLGNT which is crucial for appropriate treatment.


2013 ◽  
Vol 70 (9) ◽  
pp. 887-890 ◽  
Author(s):  
Miroslav Dinic ◽  
Lidija Kandolf-Sekulovic ◽  
Lidija Zolotarevski ◽  
Rados Zecevic

Introduction. Granulomatosis Wegener is anti-neutrophil cytoplasmic antibodies (ANCAs)-associated systemic vasculitis of unknown etiology. It is manifested as granulomatous necrotizing inflammation of the upper and lower parts of the respiratory tract, glomerulonephritis and systemic vasculitis involving most frequently the skin and oral mucous membrane. Sera markers of this disease are c-ANCA and p-ANCA. Case report. We presented a female patient aged 52 years with purpuric spots that had appeared on the lower legs ten months before admission to our hospital. The disease ran an aggressive course, and a month before admission hemorrhagic bullae, skin ulcers, hoarseness, dyspnea, generalized arthralgia, fatigue and fever had rapidly developed. Histopathological examination of a skin sample revealed necrotizing vasculitis, so that sera markers concentrations were elevated (c-ANCA, p-ANCA). There was a perforation of the nasal septum found on rhinoscopy. During hospitalization acute abdominal pain occurred, a possible tumor in the small intestine and possible granulomas in the liver were seen by multislice computed tomography (MSCT) examination, with normal findings on the lungs and kidneys. The treatment started with methylprednisolone: 500 mg/d i.v. infusion for consecutive 3 days, then 60 mg/d. On exploratory laparotomy small bowel perforation and diffuse peritonitis were found. Unstable in the postoperative period, the patient died on the day 12 of hospitalization. Conclusion. The reported patient was with fulminant Wegener?s granulomatosis, dominantly with skin changes and with gastrointestinal manifestation. This case accents the need for rapid systemic clinical evaluation in a severely ill patient with unclear diagnosis.


2016 ◽  
Vol 15 (4) ◽  
pp. 648-650
Author(s):  
Afroza Khanam ◽  
Gulshan Akhtar ◽  
Nabila Khanduker ◽  
Nurun Nahar Chowdhury ◽  
Mohammad Abdur Rahman ◽  
...  

Sarcoidosis is a chronic granulomatous disease of unknown etiology which principally affects the lower respiratory tract & lungs. Sarcoidosis in the head & neck region is infrequent. Isolated sino nasal sarcoidosis without pulmonary involvement is rare.Case: An 18 years old male patient presented with the complaints of nasal blockage, purulent nasal discharge which was occasionally blood stained for 6 months, deformity of nose, swelling of face & lips for 4 months & watering of eyes for same duration. Endoscopy of nose revealed intra nasal mucosal thickening which was friable & bleeds on touch. The diagnosis of sino nasal sarcoidosis was made by histopathological examination of nasal biopsy specimen.Conclusion: Sino nasal sarcoidosis is a disease of diagnostic challenge to the clinician as its mimicking clinical features may be misleading & cause delay in definitive diagnosis. In the current case report, we presented a case of sino nasal sarcoidosis presenting as chronic rhino sinusitis.Bangladesh Journal of Medical Science Vol.15(4) 2016 p.648-650


2018 ◽  
Vol 40 (3) ◽  
pp. 291-295
Author(s):  
João Onofre Trindade Filho ◽  
Kaline Daniele de Souza Amaro ◽  
Allana Desirée Teixeira de Oliveira ◽  
Cecília Neta Alves Pegado Gomes ◽  
Hermann Ferreira Costa ◽  
...  

ABSTRACT Introduction: Sarcoidosis is a systemic inflammatory disease of unknown etiology, characterized by the presence of non-caseating granulomas in several organs; renal impairment alone is a rare condition. When it affects the kidneys, the most prevalent manifestations are hypercalcemia and hypercalciuria. This paper aims to address the topic of renal sarcoidosis, by means of a case report, and reinstate the importance of histopathology in its diagnosis. Methods: The data came from an observational clinical study with a qualitative approach, through an interview with the renal sarcoidosis patient and data from her medical records. Case report: Patient D.M.S., 50 years old, Caucasian, presented with reddish eyes and body pains lasting for fifteen days as first manifestations of the disease. Upon kidney ultrasound scan, we found renal parenchymal nephropathy. Serial renal function and metabolic tests reported anemia and progressive urea and creatinine changes, as well as hypercalcemia and hypercalciuria, confirming acute kidney failure (AKF). A histopathological examination suggested the diagnosis, which was confirmed by clinical, laboratory and histopathological data. There was therapeutic resolution after steroid therapy. Discussion: The symptomatology of sarcoidosis is diverse and often non-specific. Renal manifestation, which usually occurs after organ involvement, is present in less than 5% of patients, and about 1% to 2% of these patients may develop AKF. Conclusions: The use of histopathology together with clinical and laboratory data to diagnose isolated renal sarcoidosis, rule out other etiologies and introduce early treatment is of paramount importance.


2017 ◽  
Vol 5 (1) ◽  
pp. 26
Author(s):  
Chandini Dabbiru ◽  
Raghavendra Mahadev Naik ◽  
Kishore Moturi ◽  
Govind Rajkumar

Oral focal mucinosis (OFM) is a rare soft-tissue lesion of unknown etiology. Clinically it appears as asymptomatic round lesions and histologically, characterized by focal myxoid degeneration of connective tissue with presence of stellate shaped fibroblasts which were also evident in the present case. This case report stresses on the fact that diagnosis of OFM is almost impossible hence diagnosis should be confirmed by histopathological examination following incisional or excisional biopsy. Through this article we present a rare case of one such lesion on the gingiva and enumerate the most characteristic and myxomatous lesions. Thus though rare, OFM must be considered in the differential diagnosis of soft tissue overgrowths in oral cavity. Here, we describe the clinical and histopathological   presentation and subsequent management of OFM in a female patient.


2017 ◽  
Vol 2017 ◽  
pp. 1-7
Author(s):  
Cosma Calderaro ◽  
Carlo Iorio ◽  
Francesco Turturro ◽  
Federico Morelli ◽  
Luca Labianca ◽  
...  

The dysplasia epiphysealis hemimelica (DEH) is a rare disease of unknown etiology consisting in an abnormal osteocartilaginous growth at the epiphysis, usually hemimelic with histological findings similar to benign osteochondroma. In this case series, we described the results of the arthroscopic treatment of 2 consecutive cases of intra-articular ankle localization of DEH in 2 patients aged 9 and 10 years. The good result obtained, persistent at the 5-year follow-up, leads us to consider the arthroscopic approach as a reliable treatment in patient affected by intra-articular ankle DEH.


2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
T. Narayana Rao ◽  
T. Parvathi ◽  
A. Suvarchala

Lymphangioma is an uncommon benign lesion that usually occurs during childhood. Its occurrence in adults is rare. Its presentation in the abdomen is even rare. This case report describes a case of omental lymphangioma presented as retroperitoneal lump. Subsequent imaging, operative, and histological findings revealed omental lymphangioma. Laparotomy done under general anesthesia, a 10 × 12 cm cystic swelling arising from omentum, identified complete excision of the cyst done and send the specimen for histopathological examination. Biopsy report came as omental lymphangioma. Complete surgical excision is the treatment of choice. Prognosis is excellent and recurrence rate is very low if resection is complete. During two years of followup no recurrence was detected. Omental lymphangioma is very rare presentation among abdominal lymphangiomas specifically in adults. Complete excision is the treatment of choice. Long-term followup is required to detect recurrence.


2011 ◽  
Vol 19 (2) ◽  
pp. 254-256 ◽  
Author(s):  
Kemal Gokkus ◽  
Ahmet Turan Aydin ◽  
Ayca Uyan ◽  
Menekse Cengiz

2020 ◽  
Vol 12 (03) ◽  
pp. 225-229
Author(s):  
Timothy Amos Ekwere ◽  
Uchechukwu Brian Eziagu

AbstractCastleman disease (CD), or angiofollicular hyperplasia, or giant lymph node hyperplasia, is a heterogeneous benign lymphoproliferative disorder of unknown etiology. It has three distinct histologic subtypes (hyaline vascular, plasma cell, and mixed hyaline vascular plasma cell types) as well as unicentric Castleman disease (UCD) and multicentric Castleman disease (MCD) variants. In the unicentric form, the disease is confined to one anatomical lymph node and usually with no systemic symptoms. However, in the multicentric form (further subdivided into idiopathic MCD, human herpes virus-8-associated MCD, and POEMS-associated MCD), lymphadenopathy is more generalized with more aggressive systemic symptoms mimicking a malignant lymphoma. Therefore, this case report aims to underscore the importance of immunohistochemical evaluation as an indispensable ancillary technique to routine histopathological examination of a lymph node biopsy specimen, as a gold standard for definitive diagnosis of proliferative lymph node lesions.


2007 ◽  
Vol 31 (4) ◽  
pp. 257-259
Author(s):  
Mariana Passos ◽  
Rebeca Azevedo ◽  
Maria Eliza Janini ◽  
Lucianne Cople Maia

This article describes a case of central giant cell granuloma in the right posterior region of mandible in a 10- year-old girl. The lesion was removed by curettage and a histopathological examination was carried out. Clinical and radiographic follow-up showed total removal of the lesion. The importance of early diagnosis of this type of lesion is emphasized, mainly in children.


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