A syndrome--incontinentia pigmenti--of probable genetic etiology, is discussed and a new case report presented. The syndrome presents systemic and dental manifestations, which are separate although similar to those found in other disease entities, i.e., congenital syphilis, hereditary ectodermal dysplasia.
Purpose: To report a case of Erdheim-Chester disease with bilateral orbital involvement and to inform ophthalmologists about this uncommon condition. Methods: Case report. A 41-year-old man presented with proptosis, lid xanthelasmas, disc edema and extraocular muscle restrictions. He was suspected of having a systemic lymphoma and had already been submitted to a retroperitoneal biopsy, however, the diagnosis was still uncertain. Results: The patient was evaluated by computed tomography and magnetic resonance imaging of the orbit. Orbital pseudotumor was suspected and a biopsy of the orbital lesion initially failed to provide the correct diagnosis which was only made after detailed analysis of the clinical and imaging findings, and review of the histopathologic studies. The systemic diagnosis was made after the orbital diagnosis although the patient had been extensively investigated for more than one year. Conclusions: Erdheim-Chester disease is a rare idiopathic systemic condition characterized by a xanthogranulomatous process involving retroperitoneum, heart, lungs, bone and other tissues. The condition is often fatal due to renal or cardiovascular complications. Ocular findings are rare but may be very helpful for the diagnosis. Therefore...
Context. Leiomyosarcomas are rare malignant smooth muscle tumors that may arise in any organ or tissue that contains smooth muscle, commonly within the gastrointestinal tract. They are most often found in the stomach, large and small intestines, and retroperitoneum. Primary pancreatic leiomyosarcoma is extremely rare, and to the best of our knowledge only 30 cases have been reported in the world literature since 1951. Our case represents the first to have a clear origin from the main pancreatic duct. Case Report. This case was diagnosed in a large, tertiary care center in Tampa, Florida. Pertinent information was obtained from chart review and interdepartmental collaboration. A mass in the tail of the pancreas was identified with large pleomorphic and spindle-shaped cells. Immunohistochemistry for vimentin, smooth muscle actin, and desmin was positive. All remaining immunohistochemical markers performed were negative. The tumor clearly originated from the pancreatic duct wall, filled and expanded the duct lumen, and was covered with a layer of benign biliary epithelium. Conclusion. Leiomyosarcoma of the pancreas is an extremely rare malignancy with few reported cases in the literature. The prognosis is poor, and treatment consists of alleviating symptoms and pain management. To our knowledge...
Approximately 10% of patients with AIDS present with some neurological deficit as their initial complaint, and up to 80% will have CNS involvement during the course of their disease. Toxoplasmosis is the most common cause of cerebral mass lesions in patients with AIDS, but appears to be an uncommon cause of spinal cord disease. The incidence of myelopathy may be as high as 20%, with 50% of the cases reported post-mortem. We present a unique case of spinal cord disease as the initial presentation of AIDS. We also present a comprehensive literature review of this topic, its diagnosis and treatment. This is a retrospective chart review case report. After a detailed case presentation, several diagnostic and therapeutic aspects of this unique case are thoroughly discussed. Although spinal cord toxoplasmosis is uncommon, it has been suggested that most patients with AIDS that present with evolving myelopathy, characterized by extremity weakness, sensory involvement, spinal cord enlargement, enhancing lesions in brain or spinal cord CT or MRI, have toxoplasmic myelitis.
Recently, fimbriae have been identified as a possible arising site for the pelvic serous carcinoma (PSC) both in BRCA-positive and BRCA-negative women. Although non-invasive (intraepithelial) serous adenocarcinoma of the fimbria has been found in specimens obtained from prophylactic salphingo-oophorectomies in BRCA-positive women, there has not been any case report in clinical situation, since this type of tumor is usually detected after stromal invasion/widespread dissemination. We describe a 67-year-old woman with non-invasive serous adenocarcinoma located solely in the left fimbria. This case may suggest the benefit of endometrial cytology and detailed gross examination of fimbria for the early detection of fimbrial carcinoma. This case may provide evidence suggesting fimbrial intraepithelial adenocarcinoma is one cause of PSC.
Introduction. The nonsquamous carcinomas of the larynx are considered rare with the majority of malignant tumors in this area, reaching the rate of 95%, to be squamous cell neoplasms. Case Report. The case refers to a 53-year-old man that presented with symptomatology of motor nerve disease. During the evaluation of the neurologic disease, a subglottic mass of the larynx was revealed accidentally in the imaging examination. Under general anesthesia, we performed direct laryngoscopy and biopsy of the mass. The histopathologic examination revealed a hybrid carcinoma coexistence of two different carcinomas, an adenoid cystic carcinoma and an adenocarcinoma, not otherwise specified with poor differentiation. Regarding the therapeutic plan, the mass was considered inoperable due to its expansion to trachea and the patient received radiotherapy. Conclusions. Both the adenocarcinoma and adenoid cystic carcinoma are extremely rare types of malignant tumors in the larynx. The special interest of the present case is the coexistence of these two rare tumors in the same region of the larynx, being a hybrid tumor of the salivary glands in the larynx, which is the second reported case, based on our systematic literature review.
Lesser celandine, also known as Ranunculus ficaria, is a herbaceous perennial plant that commonly utilizes piles and is taken either internally or used externally. The causality assessment of several reports provided evidence for the existence of Greater Celandine hepatotoxicity. However, there hasn’t been any case report published thus far, about lesser celandine induced liver injury. Here, we present a case of 36-year-old woman admitted to the hospital with acute hepatitis and jaundice on her sclera with no history of drug abuse or alcohol consumption. However, the patient had a recent history of lesser celandine extract consumption for hemorrhoids, for about 10 d, prior to the admission. Viral hepatitis, autoimmune hepatitis, and drug induced toxic hepatitis were ruled out by further imaging studies and laboratory analysis. Using the Council for International Organizations of Medical Sciences scale, the type of liver injury was assumed as hepatocellular and was scored as 7 which shows probable causality. Immediate discontinuation of lesser celandine extract resulted in rapid decrease of the elevated enzymes. Herbs have been reported to cause liver injury and therefore should be suspected in the case of acute hepatitis with an unknown etiology. This case is important to be the first to explain hepatotoxicity caused by lesser celandine. Physicians should consider lesser celandine as a causative agent for hepatotoxicity.
Long-term exposure of colonic mucosa to urinary content and its association with increased risk of infection, mechanical and biochemical irritation, and malignancy have been described in the literature. Existing case reports and studies depict the low but distinct risk of malignancy in gastrointestinal segments which come in contact with urinary content as a result of surgical correction of urinary tract abnormalities. However, these reports are largely limited to colonic adenocarcinoma and urothelial cell carcinoma. Late urointestinal carcinoma in patients with ileal incorporation into the urinary tract has also been reported. To the best of our knowledge, however, there is only one case report documenting neuroendocrine (NE) cell hyperplasia in colonic mucosa after long-term cystoplasty. Our case is the first to describe microcarcinoids and diffuse NE hyperplasia occurring in a patient with congenital anorectal anomalies, resulting in long-term exposure of colonic mucosa to fecal stream and urinary content. This case, in conjunction with the reported cases in the literature, raises the distinct possibility of an association between exposure of colonic mucosa to urine and long-term development of malignancy, including NE neoplasms.
Primary non-Hodgkin lymphoma of the liver is a very rare malignancy. In this case report, we describe a case of primary hepatic lymphoma (PHL) in a 60-year-old man who presented with lump and pain in the abdomen of 2 months’ duration. The patient had altered liver function, normal serum alfa fetoprotein level (AFP), normal hemogram and bone marrow. A computed tomography scan of the abdomen and pelvis showed an ill-defined hypodense mass with specks of calcification involving the liver, suggestive of primary malignant mass of liver. Diagnosis of PHL was established on the cytology smear and confirmed by immunohistochemistry on tissue biopsy. This case demonstrates that PHL should be considered in the differential diagnosis of space-occupying liver lesions in the presence of a normal level of AFP. Fine needle aspiration cytology is a faster and safer diagnostic modality even in such a rare case. The case has many unique features like negative serology for viruses, no type B symptom and normal lactate dehydrogenase level.
Desmoplastic small round cell tumor (DSRCT) is a rare aggressive sarcoma with characteristic clinical and pathologic features. It typically involves pelvic and abdominal organs of young male patients, and patients usually present at advanced stage with poor prognosis. A few reports are available describing the cytopathologic features of DSRCT in serous effusions, with the majority of published cases depicting undifferentiated small blue cells that need to be distinguished from other small blue cell tumors. We report an interesting case of DSRCT involving a pleural effusion with a “floating island” pattern that has been described in hepatocellular carcinoma, renal cell carcinoma, and adrenal cortical carcinoma. In our case, the epithelioid tumor cells form cohesive aggregates surrounded by a single layer of spindle cells, mimicking the “endothelial wrapping” in other tumors with “floating island” patterns. We demonstrate, by ancillary testing, that these peripheral spindle cells are tapered/flattened DSRCT cells, in contrast to endothelial wrapping cells, as seen in other tumors with this unique cytomorphology. To our knowledge, this is the first case report describing DSRCT showing a “floating island” pattern that needs to be differentiated from metastatic hepatocellular carcinoma...
Vascular leiomyomas or angioleiomyomas are rare tumors that can be found in the nasal cavity. The etiology of angioleiomyoma remains poorly understood and there are several hypotheses to explain the origin of sinonasal leiomyoma. We here describe the clinical and histological findings in a case study along with the feasibility of surgical treatment using a radiofrequency instrument. In particular, we describe the case of an adult patient with recurrent epistaxis because of a nasal angioleiomyoma and the performed treatment in the form of complete surgical excision. Radiological imaging is a helpful tool to give an indication of the extension of the tumor, as well as for the proper planning of the surgical approach. Either MRI or CT scans are found to be best suited for this purpose. This case report recommends the complete surgical excision of the angioleiomyoma, by either an endoscopic or an open procedure. This can be safely performed using a radiofrequency instrument as shown in this case with no recurrence during a follow-up of 12 months.
Introduction. Myeloid sarcomas (MS) are rare tumours occurring at extramedullary sites. They are usually associated with other haematology disorders such as acute myeloid leukaemia, myelodysplastic syndrome, and chronic myeloproliferative neoplasms. They frequently occur with a diagnosis of acute myeloid leukaemia (AML) or with relapse of preexisting disease. Patients with myeloid sarcomas without history or evidence of myeloid leukaemia typically progress to form AML. Case Presentation. A case report of a patient diagnosed with an isolated myeloid sarcoma that rarely did not transform to AML but instead spread to form multiple myeloid sarcomas throughout the body. Discussion. This case identifies the risk of metastatic spread of these tumours rather than the development of AML which is poorly documented in the literature, due to the rarity of cases, and may be significant in the investigation and management of isolated myeloid sarcomas. This case highlights the need for clinicians to consider repeat cross-sectional imaging to investigate unexplained clinical decline or symptoms, when there is no sign of AML progression and to consider radiotherapy treatment early.
Meckel's diverticulum is the commonest congenital abnormality of the gastrointestinal tract. Hemorrhage, obstruction and inflammation are the three main categories of complications resulting from Meckel's diverticulum. Spontaneously perforation of Meckel's diverticulum is very rare and mimics acute appendicitis. We report a case of 26 year-old male, who presented since 5 days worsening abdominal pain predominantly in the right iliac fossa associated with high grade fever. On physical examination his abdomen was distended with guarding and rigidity. A provisional diagnosis of appendiculaire peritonitis was made. Our patient had an emergency laparotomy, where a perforated Meckel's diverticulum and advanced peritonitis were discovered. A diverticulectomy with ileostomy were performed. Heterotopic mucosa of diverticulitis was confirmed on histopathology. The patient made an uneventful recovery postoperatively and ileostomy reconstruction was done two months later. This case report is an interesting and unusual case of Meckel's diverticulum complications and highlights the importance of considering Meckel's diverticulum as a differential diagnosis in every patient presenting with acute abdomen.
This case reports a rare condition of scurvy which posed a diagnostic difficulty. However, a thorough medical and diet history, along with clinical and histopathological examination aided in prompt diagnosis and successful management of the case. Occurrence of scurvy in today's contemporary society is said to be rare. Lack of fresh fruits and vegetables in the diet can lead to this condition. Diagnosis may be difficult due to its rarity and presence of non specific symptoms, which may pose a challenge to the clinician. A comprehensive history, clinical examination along with clinical and histopathological features led to arrive at a proper diagnosis. Local procedures and systemic therapy aided in the successful management of the case. A marked improvement in the gingival status and in the physical well being of the patient resulted after treatment. This case report describes the various manifestations of scurvy that posed a diagnostic challenge to the clinician. This condition which can be fatal if untreated can be easily prevented with inclusion of healthy food in the diet and modification in the lifestyle.
Purpose. Aortic stent-graft infection with fistula formation is a rare complication with high mortality rate when treated surgically by stent-graft removal. We report a case of a patient with aortic stent-graft infection, prosthetic-duodenal, and prosthetic-cutaneous fistulas operated without the removal of an infected prosthesis and ineffectively tailored antibiotic therapy. Case Report. A 66-year-old patient with high cardiovascular risk and endovascular stent-graft implantation developed a symptomatic infection of the aortic stent graft 42 months after procedure. It was manifested by iliolumbar muscle abscess and two fistulas: prosthetic cutaneous and prosthetic duodenal. The prosthetic-duodenal fistula was excised and separated from the prosthesis. The perforation within the duodenum was closed in layers. Iliolumbar abscess was removed and drainage was effected .The stent graft was left. The patient received tailored antibiotic therapy. He was readmitted to hospital after 4 weeks with symptoms of infection and leakage of pus discharge in the lumbar area. Despite the antibiotic therapy, the total parenteral nutrition of the patient's clinical status and malnutrition deteriorated and he died of cardiac arrest. Conclusion. The presented case confirms that leaving off of the infected stent graft in the patient with severe comorbidity and treated with a tailored antibiotic therapy may not be effective.
Objective. To present a case of otic Langerhans' cell histiocytosis in an adult. Also included the diagnosis and management of the condition and a review of the relevant literature. Case Report. We report a case of a 41-year-old man with a history of persistent unilateral ear discharge associated with an aural polyp. Radiological imaging showed bony lesions of the skull and a soft-tissue mass within the middle ear. Histological analysis of the polyp demonstrated Langerhans' cell histiocytosis. His otological symptoms were completely resolved with the systemic therapy. Conclusions. Otic Langerhans' cell histiocytosis can present in adults. Persistent ear symptoms along with evidence of soft-tissue masses within the ear and bony lesions of the skull or elsewhere should prompt the otolaryngologists to include Langerhans' cell histiocytosis in their differential diagnosis. Management should be with systemic therapy rather than local surgical treatment.
Ganglion and synovial cysts of the temporomandibular joint (TMJ) are rare. Although histopathological findings differ, clinical presentation is comparable. This study adds a case report of a ganglion of the TMJ to existing literature and a review of all available case reports on ganglion and synovial cysts of the TMJ. Including our own case report, we reviewed 49 cases of ganglion and synovial cysts of the TMJ. They occurred in a female:male ratio of 3:1, at an median age of 46 years (range, 11–64 years). Patients mainly presented with preauricular swelling and pain. After imaging, the ganglion or synovial cyst was most commonly excised under general anesthesia. No recurrences were described.
Cutaneous horn is characterized by the accumulation of abnormal keratinized material and may occur in association with a variety of benign, premalignant, and malignant cutaneous lesions. Cutaneous horn occurs very rarely in association with soft-tissue neoplasias. A cutaneous horn located on the toe was completely removed by excision in a 78-year-old male patient. Macroscopic examination revealed a hemorrhagic nodular lesion, 0.5 cm in diameter, located on the dermis underlying the cutaneous horn with a height of 1 cm. Histopathological examination revealed a neoplastic lesion consisting of fusiform cells and extravasated erythrocytes underlying the compact keratin mass. The immunohistochemical analysis showed immunoexpression of endothelial markers and HHV8 in fusiform cells. The case was evaluated as “cutaneous horn developed in a nodular stage Kaposi's sarcoma.” Our case is the second case of cutaneous horn related to Kaposi's sarcoma reported in the English literature and is presented in this case report with its clinical and histopathological features.