Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.

Hyperphosphatemic familial tumoral calcinosis (HFTC), secondary to fibroblast growth factor 23 (FGF23) gene mutation, is a rare genetic disorder characterized by recurrent calcified masses. We describe young Lebanese cousins presenting with HFTC, based on a retrospective chart review and a prospective case study. In addition, we present a comprehensive review on the topic, based on a literature search conducted in PubMed and Google Scholar, in 2014 and updated in December 2017. While the patients had the same previously reported FGF23 gene mutation (homozygous c.G367T variant in exon 3 leading to a missense mutation), they presented with variable severity and age of disease onset (at 4 years in patient 1 and at 23 years in patient 2). A review of the literature revealed several potential patho-physiologic pathways of HFTC clinical manifestations, some of which may be independent of hyperphosphatemia. Most available treatment options aim at reducing serum phosphate level, by stimulating renal excretion or by inhibiting intestinal absorption. HFTC is a challenging disease. While the available medical treatment has a limited and inconsistent effect on disease symptomatology, surgical resection of calcified masses remains the last resort. Research is needed to determine the safety and efficacy of FGF23 replacement or molecular therapy, targeting the specific genetic aberration. Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder characterized by recurrent calcified masses, in addition to other visceral, skeletal, and vascular manifestations. It remains a very challenging disease.

Endoscopic removal of a bleeding colonic polypoid angiodysplasia: case report.

Arteriovenous malformations are common causes of lower gastrointestinal bleeding in the elderly. Among them, angiodysplasia is one subtype that appears on endoscopy as red, flat superficial lesions, and sometimes slightly elevated. Colonic angiodysplasia is very rarely seen as a polypoid lesion. The present case describes a bleeding large polypoid colonic angiodysplasia in a 60-year-old man. It was removed endoscopically using a PolyLoop ligature device without complications.

Cytomegalovirus appendicitis following acute Epstein-Barr virus infection in an immunocompetent patient.

Acute appendicitis due to cytomegalovirus is exceedingly rare. It occurs mostly in individuals with the acquired immunodeficiency syndrome and has been reported once in an immunocompetent patient. This report describes a man who developed acute appendicitis following acute Epstein-Barr virus infection, and in whom cytomegalovirus was incriminated based on pathological examination.

Perirenal fluid in renal parenchymal medical disease ('floating kidney'): clinical significance and sonographic grading.

AIM: To study the clinical significance and radiologic features of perirenal fluid in patients with renal parenchymal disease. MATERIALS AND METHODS: During the previous 5 years, nine patients were found to have perirenal fluid on sonography associated with renal parenchymal medical disease. The clinical, radiological, histopathological and laboratory data were analysed. RESULTS: The perirenal fluid is a spontaneous subcapsular transudate in patients suffering from a nephropathy with a sodium retention state, with or without renal failure. Three sonographic patterns of perirenal fluid were observed: grade 1 is a thin layer of perirenal fluid; grade 2 is a moderate amount of perirenal fluid collection with indentations of the renal parenchyma and strands in the fluid, grade 3 is a large fluid collection surrounding the kidney. CONCLUSION: The perirenal fluid represents a sign of sodium retention state and oedema in patients with intrinsic renal parenchymal medical disease which may be caused by several nephropathies.

Multinucleated giant cells in fine-needle aspiration of thyroid nodules: their diagnostic significance.

Multinucleated giant cells (MNGCs) are reported in many thyroid lesions. This study examines whether their quantity and quality can help in the differential diagnosis. All fine-needle aspirations (FNAs) of the thyroid with a "significant" number of MNGCs were reviewed from 1995 -1998. There were 23 cases (<1% of thyroid FNAs): 8 papillary carcinomas (PC), 4 subacute thyroiditis (ST), 3 granulomas, 7 adenomatous goiters (AG), and one Hurthle-cell adenoma (HA). MNGCs with dense cytoplasm were seen exclusively in PC, ST, and granulomas. They had angulated shapes. They were most numerous, largest, and with the highest number of nuclei in ST and granulomas. MNGCs with foamy cytoplasm were seen in AG and HA and 80% of the other cases (PC, ST, and granulomas). In PC, rare MNGCs had intranuclear inclusions and grooves. The accompanying cell population was characteristic of each disease. The quantity and quality of MNGCs in thyroid FNA may be helpful in narrowing the differential diagnosis. Diagn. Cytopathol. 1999;21:307-312.

Peritoneal sarcoidosis: case report and review of the literature.

OBJECTIVES: This study was performed to report a patient with peritoneal sarcoidosis and review the literature for similar cases. METHODS: We described the clinical presentation, course, and outcome of the patient, and reviewed the medical literature from 1966 till 1997 using MEDLINE and the key words sarcoidosis, scar, and peritoneum. RESULTS: Our patient presented with a rapidly growing tumor-like mass at the site of an old appendectomy scar. Laparoscopy showed a large peritoneal mass and multiple small peritoneal nodules that were found to be noncaseating granulomas by pathology. The MEDLINE search uncovered only 16 cases of peritoneal sarcoidosis, most of which presented with ascites. CONCLUSION: This case illustrates the need to consider sarcoidosis, in addition to infections and neoplasms, in the differential diagnosis of peritoneal nodules and exudative ascites.

Treatment of pediatric Hodgkin's disease with chemotherapy alone or combined modality therapy.

Optimal treatment for Hodgkin's disease during childhood is unknown. We report the treatment outcome of patients with Hodgkin's disease <13 years of age seen at the American University of Beirut Medical Center (AUBMC) between 1980 and 1996. A retrospective review of the medical records of 24 children treated for HD at AUBMC was performed. Treatment consisted of chemotherapy alone (n = 15) or chemotherapy plus involved field radiotherapy (n = 9). Chemotherapy consisted of COPP, ABVD, or alternating cycles of each for a total of 6 to 12 cycles, depending on clinical and radiological response; three patients received MOPP. Five patients in the chemotherapy group had clinical stage (CS) I and II and 10 had CS III disease. In the combined modality group, eight patients had CS I and II and one had CS IV disease. At a median follow-up of 5 years, the event-free survival (EFS) for the combined modality group was 100% and the overall survival (OS) 100%. For the chemotherapy alone group, the EFS was 56% and the OS was 79%. Four patients (27%) in the chemotherapy alone group who had Stage IIIB disease relapsed. Mean time to relapse was 4.3 years. In our experience, six cycles of COPP or (COPP plus ABVD) alone were suboptimal for the treatment of Stage IIIB Hodgkin's disease patients, especially those with involvement of lower abdominal nodes (III2B), extensive pulmonary disease, or mixed cellularity histology. Radiation therapy or additional chemotherapy courses are required for these patients.

Fine-needle aspiration of the mediastinum: a clinical, radiologic, cytologic, and histologic study of 42 cases.

Forty-two fine-needle aspirates (FNA) of the mediastinum were reviewed from 1984-1995. The clinical, radiologic, pathologic, and cytologic material was studied. Twenty-five males and 17 females had an age range from 10-72 yr and a mean of 41 yr. Common complaints were chest pain, dyspnea, and cough. Thirty-eight tumors were in the anterior/superior mediastinum. Fifty-seven percent were primary neoplasms (Hodgkin's lymphoma, 7; non-Hodgkin's lymphoma, 6; thymoma, 3; germ-cell tumor, 3; thymic carcinoid and angiosarcoma, 1 each; and malignant not otherwise specified, 3). Twenty-four percent were metastatic tumors (carcinoma, 9; and sarcoma, 1). Twelve percent were benign conditions (granulomatous disease, 2; multinodular goiter, 1; extramedullary hematopoesis, 1; and one thymic cyst). Seven percent were inconclusive. FNA yielded adequate tissue for diagnosis in 83% and a correct diagnosis in 86%. There was one false-negative and no false-positive diagnosis. FNA is a useful tool for accurate tissue diagnosis of mediastinal masses.

Osteoid osteoma of the proximal phalanx of a toe. A case report.

A case of osteoid osteoma of proximal phalanx of second toe is presented. The clinical, radiological, and pathological features are discussed. Osteoid osteoma is rare in toe phalanges but should be considered when a patient presents with unexplained chronic pain in his or her toes.

Late recurrence with malignant degeneration of testicular teratoma. Case report.

Radical orchiectomy was performed on a 25-year-old man for benign mature teratoma. A synchronous without change 3 cm retroperitoneal mass was followed for five years. The mass enlarged and became symptomatic twelve years after orchiectomy. Excision of the mass revealed a non-seminomatous germ cell tumor. Possible explanation is malignant degeneration of the teratomatous elements. Testicular teratomas should be treated as potentially malignant non-seminomatous tumor.

Pressure ulcer accelerated healing with local injections of granulocyte macrophage-colony stimulating factor.

This is the first report of granulocyte macrophage-colony stimulating factor (GM-CSF) inducing accelerated healing of a sacral pressure ulcer in a bedridden patient with bilateral hemiplegia. GM-CSF was diluted and injected locally around and into the ulcer bed every 2-3 days for 2 weeks, then weekly for 4 weeks until complete healing occurred. A new firm granulation tissue was noted within a few days. The ulcer showed 85% healing within 2 weeks and 100% by 2 months. Healing started from the periphery and from within the ulcer bed at sites of GM-CSF injections. It was slower at areas where there was complete necrosis and detachment of skin from underlying tissue. The ulcer remained closed until the patient's sudden death 9 months later. A biopsy of granulation tissue showed inflammatory cells and reactive fibroblasts. The potential role of GM-CSF and growth factors in pressure ulcer therapy and wound healing are discussed.

Mammary carcinoma with osteoclastlike giant cells cytologically mimicking benign breast disease. A case report.

BACKGROUND: Mammary carcinoma with osteoclastlike giant cells (OCLGCs) is a rare tumor. Few reports on the fine needle aspiration (FNA) findings are available. This case had cytologic findings overlapping with benign breast disease. CASE: A 50-year-old woman presented with multiple masses in her right breast and a 2-cm right axillary lymph node. Cytologic scrapings and FNA of the same breast mass showed large cohesive, two-dimensional epithelial cells with a uniform distribution of small, bland nuclei. Discohesion, single cells with features of malignancy, cytologic atypia and mitosis were lacking. Many OCLGCs were present. CONCLUSION: The cytologic features of this rare type of breast carcinoma need to become familiar to pathologists to avoid a false negative diagnosis.

Phyllodes tumor. Fine needle aspiration cytology of eight cases.

OBJECTIVE: To elucidate the fine needle aspiration cytology (FNAC) features of phyllodes tumor (PT). STUDY DESIGN: Eight FNAC cases of PT (five benign and three malignant) were reviewed. Features examined were cellularity, epithelial/stromal ratio, phyllodes fragments (PFs), blood vessels crossing PFs, bipolar naked nuclei, stromal pleomorphism, stromal cell size, mitosis, macrophages, sarcomatous component and atypical epithelial component. RESULTS: Benign PTs were characterized by cellular smears with both stromal and epithelial elements. All cases had many highly cellular stromal fragment PFs. Stromal cells were twice the size of a lymphocyte and lacked pleomorphism. Bipolar naked nuclei were a constant feature. The epithelial component predominated, demonstrating benign ductal groups and cellular areas with discohesion superficially mimicking adenocarcinoma in three cases. FNAC of primary malignant PT (one case) had two patterns, one mimicking benign PT and the other demonstrating a pure sarcomatous component. FNAC of metastatic PTs (two cases) showed pure sarcomatous elements. CONCLUSION: The diagnosis of PT is favored over fibroadenoma when many PFs are present. The size and shape of the stromal cell nuclei were not helpful differentiating features in this study. The diagnosis of malignant PT was based on the purely sarcomatous component.

Meningeal carcinomatosis as the presenting manifestation of gastric adenocarcinoma.

Leptomeningeal involvement is usually reported as a secondary event in advanced, already diagnosed, gastric adenocarcinoma. We report a case of leptomeningeal carcinomatosis in which identification of mucus-secreting "signet-ring" carcinoma cells in the cerebrospinal fluid allowed the diagnosis of an otherwise asymptomatic gastric cancer. This is one of the very few reported cases manifesting as such in the medical literature.

Liposarcoma of the spermatic cord.

In a 57-year-old man, a suspected incarcerated left inguinal hernia proved to be multifocal dedifferentiated liposarcoma of the spermatic cord. Radical orchiectomy and wide excision were performed, but marginal biopsies were positive for tumour. Radiotherapy was given.

Vulvar fibroepithelial polyp with myxoid stroma: an unusual presentation.

A case of fibroepithelial polyp arising from the labium majus is described. The tumor measured 12 cm in its largest diameter and was connected to the left labium majus by a 12-cm pedicle. The microscopic examination showed hypocellular connective tissue and focal myxoid areas. One year following surgical excision, the patient did not manifest any signs of recurrence. This case is very unusual in that almost all reported vulvar fibroepithelial polyps are small and sessile.

Fine-needle aspiration cytology of the male breast in a cancer center.

All fine-needle aspirates (FNA) performed on the male breast at The University of Texas M. D. Anderson Cancer Center from 1985 to 1992 were reviewed, totaling 64. The patients' ages ranged from 19 to 86 years, with a mean of 56 years. Thirty-three patients had a history of an extramammary malignancy. The diagnoses established by FNA were gynecomastia (45), mammary carcinomas (6), neoplasms metastatic to the breast (5), suspicious for carcinoma (1), intra-mammary lymph node (1), and lipoma (1). In five cases the aspirates were nondiagnostic. Two of these proved to be gynecomastia on subsequent histologic examination. Of the six FNA cases initially thought to represent primary breast carcinomas, two were found to be secondary because of involvement of the underlying chest wall by mesothelioma (1), and mucinous adenocarcinoma, unknown primary (1). No false-positive diagnosis was rendered. We conclude that fine-needle aspiration of the male breast is a reliable means of assessment; however, unique problems may be encountered compared with aspiration of the female breast. These include the epithelial hyperplasia frequently associated with gynecomastia, the relatively equal frequency of primary and metastatic breast lesions when a malignant process is discovered, and chest wall lesions masquerading as breast lesions.

Diagnosis of eosinophilic granuloma of bone by fine-needle aspiration with concurrent institution of therapy: a cytologic, histologic, clinical, and radiologic study of 27 cases.

Twenty-seven patients with eosinophilic granuloma (EG) of bone seen at our institution between 1979 and 1991 underwent fine-needle aspiration (FNA) with or without concurrent Tru-Cut biopsy. The 16 males and 11 females ranged in age from 2 1/2 to 61 years (median, 10 yr). Twenty-four patients had monostotic lesions. The clinicoradiologic differential diagnosis included osteomyelitis and Ewing's sarcoma (young patients) and primary and metastatic malignancies (older patients). Twenty-four of 28 FNAs (one patient had two FNAs) were diagnostic of EG, and 10 cases were diagnosed by FNA alone. Smears in these cases showed histiocytes, often with grooved or infolded nuclei, and abundant eosinophils. Multinucleated giant cells, foamy histiocytes, neutrophils, lymphocytes, and plasma cells were present in variable numbers. Four FNAs were misdiagnosed: two as osteomyelitis where smears contained abundant neutrophils, sparse eosinophils, and histiocytes misinterpreted as foamy histiocytes, and two as metastatic carcinoma (in adults) where histiocytes in a scant specimen (one case) and skin appendiceal structures without lesional tissue (one case) were misinterpreted. These cases were correctly diagnosed on repeat FNA (one case), Tru-Cut (two cases), or excisional biopsy (one case); however, three cases diagnosed by FNA had nondiagnostic concurrent Tru-Cut biopsies. Treatment consisted of intralesional injection of 125 mg of methylprednisolone (22 cases). Progressive or complete healing of all lesions occurred. FNA is a rapid and useful technique for the immediate diagnosis of EG that allows concurrent institution of therapy.