Extracranial Facial Nerve Schwannoma-Histological Surprise or Therapeutic Planning?

Schwannomas (neurilemomas) are benign, slow-growing, encapsulated, white, yellow, or pink tumors originating in Schwann cells in the sheaths of cranial nerves or myelinated peripheral nerves. Facial nerve schwannomas (FNS) can form anywhere along the course of the nerve, from the pontocerebellar angle to the terminal branches of the facial nerve. In this article, we propose a review of the specialized literature regarding the diagnostic and therapeutic management of schwannomas of the extracranial segment of the facial nerve, also presenting our experience in this type of rare neurogenic tumor. The clinical exam reveals pretragial swelling or retromandibular swelling, the extrinsic compression of the lateral oropharyngeal wall like a parapharyngeal tumor. The function of the facial nerve is generally preserved due to the eccentric growth of the tumor pushing on the nerve fibers, and the incidence of peripheral facial paralysis in FNSs is described in 20-27% of cases. Magnetic Resonance Imaging (MRI) examination is the gold standard and describes a mass with iso signal to muscle on T1 and hyper signal to muscle on T2 and a characteristic "darts sign." The most practical differential diagnoses are pleomorphic adenoma of the parotid gland and glossopharyngeal schwannoma. The surgical approach to FNSs requires an experienced surgeon, and radical ablation by extracapsular dissection with preservation of the facial nerve is the gold standard for the cure. The patient's informed consent is important regarding the diagnosis of schwannoma and the possibility of facial nerve resection with reconstruction. Frozen section intraoperative examination is necessary to rule out malignancy or when sectioning of the facial nerve fibers is necessary. Alternative therapeutic strategies are imaging monitoring or stereotactic radiosurgery. The main factors which are considered during the management are the extension of the tumor, the presence or not of facial palsy, the experience of the surgeon, and the patient's options.

Current diagnosis and treatment of rhinosinusal aspergilloma (Review).

There are numerous types of sinusitis caused by fungal strains, some of which already colonize the nasal cavity. Mild forms present fungus balls growing inside a preexisting sinus cavity. The invasive type ranges from chronic manifestations to acute aggravated episodes. The latter scenario is encountered in cases with reduced immune responses, such as patients with diabetes, individuals receiving any form of transplant, AIDS cases and chemotherapy patients. Without the control of immunosuppression, the infection is aggravated and extends to the orbit and inside the skull base, regardless of the prompt surgical and medical treatment. This is the most common pathogenic fungus on the nasal sinuses level. It can occasionally enter the sinus cavity during dental procedures. The pathogenesis is enhanced by anaerobic conditions in poorly ventilated sinus cavities. Rhinosinusal aspergilloma has a slow, insidious evolution over months and even years. Our experience revealed the presence of both a dental problem and previous self-administered antibiotic regimens in almost every case. The initial symptoms are common with sinusitis of dental origin, but aspergilloma should be considered when a patient with a competent immune system does not respond to standard antibiotic treatment. The final diagnosis of rhinosinusal aspergilloma is conducted on a pathology sample with silver staining. The bacteriology exam of the sinus secretion rarely reveals a fungus infection; however, as revealed in our clinical experience, there may be coinfection with other multidrug-resistant bacteria. Surgical treatment must establish a wide exposure of the sinus cavity and correct drainage regardless of the external, combined or endoscopic approach. Early diagnosis and emergency surgical debridement along with administering systemic antifungal compounds in some cases represent the key to the successful treatment of invasive aspergilloma.

Morphological and immunohistochemical diagnostic of extragastrointestinal stromal tumors - a 51 case series analysis.

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the digestive tract, originating from structures differentiating towards Cajal cells. Due to their morphology and localization, the extragastrointestinal stromal tumors (EGISTs) can be a diagnostic challenge. We investigated a series of 51 EGISTs diagnosed in our institutions, aiming to explore the immunophenotypes and to analyze the process and the utility of the antibodies required for a positive diagnosis. Immunohistochemical examinations were done for pan-cytokeratin (pan-CK), Ki67, discovered on GIST1 (DOG1) protein and platelet-derived growth factor receptor alpha (PDGFRA), as necessary. The main tumor site was abdominal wall in 43 (84%) cases, most of the tumors showed spindle cell cellularity, followed by mixed and epithelioid type. Twenty-six cases revealed a full conventional immunohistochemical profile with DOG1 positivity. In 10 cases, c-KIT expression was absent but with the preservation of cluster of differentiation (CD)34 positivity, and eight cases were positive for PDGFRA. In our study, we found a subgroup of eight cases presenting in extra-abdominal settings (including one in lung and two in the head-and-neck area). We concluded EGISTs represent a histopathological and immunohistochemically challenging subgroup testing more often negative for c-KIT mutations and positive for PDGFRA compared to GIST. DOG1 remains the marker of choice regardless of tumor site, while CD34 and CD117 should be considered as adjuvants.

Lung cancer mimickers - a case series of seven patients and review of the literature.

BACKGROUND: Lung is the third most frequent identified site of malignancy and lung cancer is the most lethal type of cancer in the world. Several benign lung diseases or proliferations may mimic lung carcinoma in its clinical, pathological, and radiological presentation, which makes the differential diagnosis life changing. This case series was designed to describe the main diagnosis encountered in a multidisciplinary emergency hospital during the last years in Romania. RESULTS: The most challenging cases encountered during the recent years were those of lung hamartoma associated with eosinophilic pneumonia because of the multicentricity of the disease and the suspicion for metastasis in the clinical setting, pulmonary aspergillosis that presented as a cystic lesion with a 9 mm mural nodule, actinomycosis discovered as firm nodule showing aspects of false pleural invasion, cryptococcosis - a hilar mass for which a pneumectomy was prepared, pulmonary parasitosis that presented as a nodule with irregular borders, causing pleural retraction, one case of inflammatory myofibroblastic tumor of the lung, one case of tumorlet type neuroendocrine lesion in a patient with history of melanoma and renal oncocytoma, admitted under the suspicion of lung metastasis. CONCLUSIONS: These are some of the main mimickers of primary or secondary lung cancers and one must be aware of these similitudes to avoid higher cost procedures, psychological stress for the patient and higher mortality.

Cutaneous melanoma arising on pre-existing nevi - case reports.

Skin cancer is a common healthcare issue that affects millions of people worldwide. Only a small part of that population is suffering from melanoma and an even smaller proportion has melanoma developed on a pre-existing nevus. This paper illustrates five such cases, diagnosed over an 18-month period, with their histological particular aspects. Among the total number of patients diagnosed and treated in the Department of Plastic and Reconstructive Surgery, University Emergency Hospital, Bucharest, Romania, over approximately one year, of which half for melanoma in general or for benign nevi, only a small fraction had developed melanoma on a common or dysplastic nevus. These patients, as well as those with de novo developed melanoma, are a reason for concern since most of the lesions were diagnosed in a locally advanced stage of the disease. Though efforts are being made to screen and diagnose early, there are still a lot to be done in order to lower the mortality and morbidity rates for this pathology.

Cutaneous microcystic/reticular schwannoma: case report and literature review of an exceedingly rare entity with an unusual presentation.

Conventional schwannoma represents a benign peripheral nerve sheath tumor derived from Schwann cells, which usually arises in the fourth or fifth decade of life, in the subcutaneous tissue of the distal extremities, or in the head and neck region of adult patients, with no gender predilection. In addition to the classic type, at least 11 different histopathological subtypes have been described and unawareness of these uncommon histopathological entities may lead to diagnostic pitfalls and risk of mistreatment. Recently described in the scientific literature, microcystic/reticular schwannoma is still relatively unknown to both surgeons and pathologists. The purpose of this paper is to highlight its existence by describing an additional case that occurred in the retroauricular area, and to further characterize its clinical, histopathological and immunohistochemical features. We reviewed the literature and compared the current case with others that have been documented thus far, discussing all possible differential diagnoses.

Keratoacanthoma centrifugum marginatum: an unusual clinical and histopathological diagnostic pitfall.

Keratoacanthoma centrifugum marginatum (KCM) is a very rare variant of keratoacanthoma characterized by progressive peripheral growth accompanied by central healing. The tumor has the peculiar ability to involute spontaneously. A careful differential diagnostic with other skin carcinomas or hyperkeratotic lesions is required in order to ensure appropriate clinical management. We report a case of KCM in a 62-year-old man presenting with a solitary, large exophytic, sessile tumor located on the ventral side of the right lower leg, which developed over the course of one year from an initial erythematous papule. The patient presented history of local trauma. To our knowledge, this is the second report in the scientific literature supporting a possible traumatic etiology. Due to its rarity and lack of distinctive histopathological features, KCM poses a difficult diagnostic challenge. Therefore, the importance of an accurate histopathological examination and extensive use of ancillary studies for differential diagnosis is emphasized.

Expression of Bcl-2, Melan A and HMB-45 in Dysplastic Nevi.

BACKGROUND: From the first recognition of dysplastic nevi as a pathology per se, many debates have been raised and many histological and immunohistological studies have been conducted in order to establish the true significance of these lesions. Therefore, the aim of this study was to establish if there is a correlation between HMB-45, Melan A and Bcl-2 expression and the grade of dysplasia, as well as between the marker's staining patterns. MATERIAL AND METHODS: Ten dysplastic nevi from six female patients were selected and their histological features (size, dysplasia), as well as the immunohistological staining patterns, were studied (HMB-45, Melan A, Bcl-2). The Pearson correlation coefficient and regression was calculated with Windows Excel Data Analysis. RESULTS: We demonstrated that there was a notable correlation between the dysplasia and the size of the lesions (r(8)= 0.62 with p-value= 0.052), and also between Melan A and Bcl-2 (a r(6)= 0.73, p<0.05), but we did not obtain a statistically significant correlation between other features (p>0.05). CONCLUSIONS: We can affirm, at least in our cases, there is a correlation between the grade of dysplasia and the size of the lesion, and also, that there is a correlation between Melan A and Bcl-2 staining, explained by MITF gene. These results were only partial concordant with those in other studies, therefore a larger number of cases is recommended to be further analyzed in order to clearly draw a conclusion.

A challenging case of ocular melanoma.

Ocular melanoma is a rare malignancy found in clinical practice. In this paper, we present a case of highly aggressive ocular melanoma, which was surgically removed at the Department of Ophthalmology and diagnosed at the Department of Pathology, Emergency University Hospital, Bucharest, Romania, using conventional histopathological techniques. Uveal melanoma, a subset of ocular melanoma, has a distinct behavior in comparison to cutaneous melanoma and has a widely divergent prognosis. Approximately half of patients with ocular melanoma will develop metastatic disease, predominantly with hepatic, pulmonary or cerebral location, over a 10 to 15 years period. No systemic therapy was associated with an evident clinical outcome for patients with advanced disease and overall survival rate remains poor.

Galactorrhoea:Report of Two Cases.

Galactorrhoea has varied causes including physiological as in pregnancy, lactation, stress, or it can be pathological or drug induced. Its evaluation comprises of a thorough history, physical examination, laboratory tests and imaging studies. We report herewith two interesting cases of galactorrhoea. The first case was a rare adverse effect of a commonly used drug (domperidone and rabeprazole) and the second case was of mild hypothyroidism leading to galactorrhoea. Prolactin levels were normal in both the cases, emphasizing that not every case of galactorrhoea is associated with high serum levels of prolactin. Secondly, galactorrhoea may be present in patients who are clinically euthyroid, in such cases dynamic tests of thyroid function can identify the cause of galactorrhoea.

Disseminated CMV and Tuberculosis Infection with Osseous Metaplasia in a Presumable Crohn's Patient: Case Report.

Associations of different pathologies are not uncommon in every day practice, but association of disseminated infections like cytomegalovirus infection and tuberculosis are quite rare and hard to diagnose. Both are infections which appear frequently in immunocompromised patients and have unfavorable prognosis. We present a case of a 62 year old male with a history of Crohn's disease and tuberculosis which presented with symptoms of relapse and infection. He was treated with immunosuppressive medication and cortisol for the past 6 weeks. Cytomegalovirus (CMV) infection was serologically confirmed. In evolution, he suffered from gastrointestinal hemorrhage and died afterwards due to the hemorrhage and pulmonary infections. Histology confirmed the CMV modification in the lungs and intestines, but also highlighted active and disseminated tuberculosis (TB), bronchopneumonia, osseous metaplasia, hyaline membranes, numerous TB abscesses in the intestinal wall and specific CMV and TB modifications in the liver. The trigger for such important and serious infections remains unclear, for the cause can be represented by the Crohn's disease per se or only by the immunosuppressive treatment. Also, CMV can trigger modifications in immune system and patients with immune-mediated diseases have an increased risk for TB reactivation.

Histopathological findings concerning ocular melanomas.

Ocular melanoma is rare in clinical practice. In this study, we present three cases of ocular melanoma surgically removed in the Department of Ophthalmology of the Emergency University Hospital of Bucharest, Romania, and diagnosed in the Department of Pathology of the same hospital using conventional histopathological techniques and immunohistochemical tests.

Trichilemmal carcinoma - a rare cutaneous malignancy: report of two cases.

The trichilemmal carcinoma is a rare low-grade malignant lesion originating from hair follicle cells that usually occurs on sun-exposed skin of older individuals. A differential diagnostic is required with other skin carcinomas. We report two cases of trichilemmal carcinoma admitted at the Emergency University Hospital of Bucharest, Romania, in 2012, one of these cases being localized in the periocular area and the other one resembling a cutaneous horn. These cases present several unusual aspects that are rarely described in the literature namely the site of the tumor which in the eyelid, development of a cutaneous horn, IHC tests which revealed EMA (epithelial membrane antigen) positivity in tumor cells. Considering that this type of tumor seldom develops metastases or local recurrences, and all the cases had free margins, there was no adjuvant therapy.

Acantholytic squamous cell carcinoma: pathological study of nine cases with review of literature.

Squamous cell carcinoma (SCC) is classified in many subtypes or forms; one of them is the acantholytic squamous cell carcinoma, also called pseudoglandular, adenoid, epithelioma dyskeratoticum segregans, or adenoacanthoma. Researching and analyzing nine cases of acantholytic squamous cell carcinoma, we intend to verify if the data provided by the cases studied can be validated by the scientific literature. All the cases presented lesions found on the head and neck skin, with two exceptions - one on the larynx and the other one on the tonsil, all of them ulcerated lesions. In two cases, the tumors developed on the skin, in preneoplasic lesions (actinic keratosis). The tumors had dimensions between 4/3/4 mm and 100/90/36 mm. During one year, two of the cases studied presented multiple recurrences. We also found two cases of metatypical carcinoma accompanied the acantholytic variant of squamous cell carcinoma. None of the analyzed cases presented distant metastasis. The histopathological criteria for selection were: keratinised squamous tumor cell type, adenoid structures with round spaces with a defined wall of at least one cell width, spaces with isolated or grouped dyskeratotic acantholytic cells.

Cutaneous verrucous carcinoma - report of three cases with review of literature.

Verrucous carcinoma is a rare variant of squamous cell carcinoma. It is well differentiated and rarely metastases but can sometimes be very aggressive locally in depth. The paper presents three cases of cutaneous verrucous carcinoma with different localizations. The first patient shows a lesion in the sacrogluteal region, the second one presented a tumor localized on the auricle (external ear), and the third patient showed a tumor on the sole of the foot. All patients underwent tumor excision and the histopathological diagnosis was verrucous carcinoma. In the first two cases, the surgery was completely curative by excision of the tumors. In the last case, the patient had relapsed and due to the aggressive nature of the tumor, which infiltrated the deeper plans, the tumor had reached the bone. None of the patients showed any metastases.

A comparison between clinical diagnosis of death and autopsy diagnosis. A retrospective study of 131 newborns, stillborns and aborted fetuses.

In recent years, the autopsy was considered necessary only in medico-legal cases, or when the clinician requires it to better understand the pathology and cause of death (with the deceased family's consent). Although it has been shown in numerous studies that the autopsy and the postmortem histopathological examination are the only ones that can diagnose correctly and completely, the autopsy rate is declining. The primary motive of the family in consenting to a perinatal necropsy, may be to determine the cause of death of their child and to be aware of possible complications of their future pregnancy. This study shows the rate of concordance between clinical diagnosis and autopsy diagnosis, and the rate of concordance between macroscopic diagnosis and microscopic findings, pointing out once again the importance and the utility of the autopsy in medical practice.

Clinical or postmortem? The importance of the autopsy; a retrospective study.

Medicine is continually evolving; the new technologies of diagnosis and treatment continue to improve the life expectancy and lead to new information concerning various pathologies. The autopsy is viewed more and more as an ultimate branch of medicine and used only in extreme cases or for forensic purposes. Nevertheless, many studies, including this one, prove the utility and indispensability of the autopsies, without which a complete and accurate diagnosis cannot be made. Finally, the autopsy followed by histopathological examination of the tissues remains the ultimate and most important step for the apprehension of the diseases and for further evolution of medicine. This study reveals the correspondence rate between the clinical and the postmortem diagnosis, as well as between macroscopic and histopathological diagnosis.

Ciliary body melanoma - a particularly rare type of ocular tumor. Case report and general considerations.

ABSTRACT: Uveal melanoma is the most common primary malignancy of the eye in white adults. Frequently, uveal melanoma arises from choroid or iris. Ciliary body melanoma is a rare if not exceptional subtype of uveal melanoma. Furthermore, ciliary melanoma is often seen in association with the other two subtypes of uveal melanoma. This paper presents a case of primary ciliary melanoma with invasion of the iris. The patient presented with blurred vision, but this symptom could not doubtless be related with the existence of the tumor, because of the small dimension of the malignancy and the lack of medical history of the patient.This tumor was included in the category of "very small ciliary melanoma", a rare diagnosis considering the fast local invasion and the lack of symptoms in such a small tumor. Histopathological and imunohistochemical examinations confirmed the diagnosis of ciliary melanomaThis type of ocular melanoma has a low prognosis due to early metastases.