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Diagnosis of histoplasmosis in urine cytology: reactive urothelial changes, a diagnostic pitfall. Case report and literature review of urinary tract infections.

Histoplasmosis not uncommonly causes systemic infection, particularly in immunocompromised patients. In systemic infection, the urinary tract is often involved, although the diagnosis of histoplasmosis in urine cytologic specimens has never been reported. Urinary tract histoplasmosis may present with gross hematuria, raising clinical suspicion for malignancy. The index case presented with intermittent gross hematuria, suprapubic pain, significant weight loss, hoarse voice, and a painful tongue ulcer. Examination of the patient revealed an ulcerated tongue lesion, an anal ulcer, a polypoid lesion on the vocal cord, and cystoscopic examination of the urinary bladder revealed erythematous patchy areas. Surgical biopsy sections from the vocal cord and tongue lesion were diagnostic of histoplasma infection. Urine cytologic examination showed atypical urothelial cells suspicious for malignancy. However, fungal stains performed on the urine specimen showed histoplasma organisms. We conclude that with a high index of suspicion, and the use of special stains, histoplasma organisms can be identified in urine.

Antifungal Agents↗

Tracheal mucormycosis presented as an intraluminal soft tissue mass.

BACKGROUND: Mucormycosis is a potentially lethal disease caused by an opportunistic fungal infection. It occurs mostly in diabetic or immunosuppressed patients and usually involves the lungs or paranasal sinuses. METHODS: We report a rare case of a patient with diabetic ketoacidosis who presented with progressive cough and dyspnea. CT of the neck and chest showed an intraluminal soft-tissue mass extending from the first tracheal ring to the thoracic inlet, causing severe destruction of the trachea. Direct laryngoscopy and biopsy demonstrated hyphal invasion with architecture typical of invasive mucormycosis. RESULTS: The patient underwent resection of the upper trachea and prolonged amphotericin B therapy and is disease free at 24 months after surgery. CONCLUSIONS: In patients with diabetes presenting with progressive hoarseness, dyspnea, and endobronchial mass, a fungal infection should be considered. In case of invasive tracheal mucormycosis, prompt diagnosis and early surgical resection may help improve survival.

Cough↗

Malignant mixed tumor of the larynx.

BACKGROUND: Malignant mixed tumor of the larynx is a very rare neoplasm; only five cases have been reported, three in the English-language literature. METHODS: We report the case of a 69-year-old man with a 2-month history of hoarseness and a left laterocervical palpable mass. RESULTS: Total laryngectomy and bilateral radical neck dissection were performed. The tumor involved the glottic and subglottic regions and thyroid cartilage and extended to the anterior side of the larynx. Microscopically, the tumor was composed of three cellular types: epithelial cells, chondrocytes, and spindle cells. The epithelial cells resembled a moderately differentiated adenocarcinoma, the mesenchymal cells resembled a high-grade chondrosarcoma, and the spindle cells had immunohistochemical features of myoepithelial cells. The tumor metastasized to a cervical lymph node, with the three described components. The patient died 11 months after surgery. CONCLUSIONS: The lesion in this case was considered to be a malignant mixed tumor. Differences between this tumor and that of laryngeal chondrosarcoma are discussed.

Aged↗

Benign parathyroid cyst causing vocal fold paralysis: a case report and review of the literature.

BACKGROUND: Parathyroid cysts are uncommon, frequently asymptomatic lesions of the neck and superior mediastinum. Symptomatic parathyroid cysts are very rare, with roughly only 200 cases reported in the literature. Of these, only nine cases have been reported with recurrent laryngeal nerve (RLN) paralysis METHODS: We report a case of a 49-year-old man initially seen with a 6-month history of worsening hoarseness. Physical examination revealed a palpable 3-cm, firm, smooth, nontender mass of the right thyroid lobe. Fiberoscopic laryngoscopy showed right vocal cord immobility consistent with RLN paralysis. After CT and fine-needle aspiration of the mass, the patient underwent a right thyroid lobectomy. During surgery, the recurrent laryngeal nerve was found to be stretched and adherent to a right inferior lobe mass. RESULTS: Histologic analysis of the surgical specimen revealed a benign parathyroid adenomatous cyst. Postoperatively, the patient's voice improved markedly. This case represents an extremely rare return of function of the RLN after cyst removal. CONCLUSION: Parathyroid cysts should be included in the differential diagnosis for vocal fold paralysis.

Cysts↗

Vocal cord paralysis from prostatic carcinoma metastasizing to the larynx.

According to 1992 Cancer Statistics, prostate carcinoma is once again predicted to be the most common cancer in men, exceeding the incidence of lung cancer. In American men, this cancer is estimated to be the second most frequent cause of cancer deaths by site. Although metastases have been reported in practically every organ in the body, prostatic cancer most often metastasizes to bones, regional lymph nodes, and viscera. Although secondary involvement of the larynx by malignant neoplasms arising in contiguous structures is well known, metastatic cancer to the larynx from a prostate carcinoma is rare. This report discusses a unique case that presented with hoarseness resulting from vocal cord paralysis. The diagnosis of the tumor was confirmed by immunoperoxidase stains for prostate-specific antigen.

Adenocarcinoma↗

Adenocarcinoma with simultaneous squamous carcinomas of the larynx.

BACKGROUND: Primary adenocarcinoma of the larynx is a rare neoplasm. The incidence is reported as less than 1% of all laryngeal neoplasms in multiple series. Simultaneous primary adenocarcinoma and a solitary squamous cell carcinoma of the larynx is even rarer and only one case has been found on review of the literature. METHODS: A case report of a 74-year-old man with a history of right-sided throat pain, odynophagia, and progressive hoarseness is presented with a review of the literature pertaining to this unusual case. RESULTS: The patient was found to have three distinctly separate laryngeal lesions on direct laryngoscopy. Histopathologic diagnosis of adenocarcinoma was made on one of the three biopsied sites with the other sites being squamous cell carcinoma. Following Combined radiotherapy and surgical treatment, the patient has remained free of disease. CONCLUSIONS: Adenocarcinoma of the larynx is an infrequent and lethal disease. This case report and a review of the literature demonstrate that aggressive surgical management is indicated, although still may not result in improved survival.

Adenocarcinoma↗

Malignant lymphoma of the thyroid gland: a clinicopathologic study.

This study reviews 21 cases of thyroid lymphoma diagnosed between 1969 and 1980. The thyroid gland was the primary site in all but two cases. The 20 patients with non-Hodgkin lymphoma had a mean age of 66 years, 75% were women, and all were Caucasian. A rapidly growing thyroid mass with hoarseness, dysphagia, and difficulty in breathing was the initial finding. Most patients had diffuse histiocytic lymphomas. Associated Hashimoto thyroiditis was found histologically in 57% of the cases. Using the immunoperoxidase stain method on tissue sections, intracytoplasmic monoclonal immunoglobulin was demonstrated in 5 of 15 cases. All but two patients received radiation therapy, and 13 received chemotherapy. The median survival was 8 months; 20% died of unrelated causes and 32% are alive (average duration: 27 months). Dissemination, after local control by radiation therapy, was the leading cause of death. The prognosis was better in men, in patients under the age of 65 years, and in those patients who, on biopsy, did not have involvement of the extrathyroid soft tissue or regional lymph nodes.

Adenocarcinoma↗

Manifestations and management of laryngoceles.

Six cases of laryngocele are reported including 2 bilateral, external laryngoceles, 1 internal laryngocele associated with amyloidosis, and 3 combined laryngoceles. Laryngoceles occur predominantly in males. Cervical mass and hoarseness were the most common signs and symptoms. Bilateral, external laryngoceles that decompress spontaneously when intralaryngeal air pressure returns to normal were managed conservatively. Combined and internal laryngoceles should be removed surgically through an external, lateral neck approach. This approach is preferable to anterior laryngofissure because it avoids trauma to the anterior commissure and the true vocal cords. In addition, blunting of the anterior commissure and the risk of subglottic stenosis are avoided.

Adult↗

Werner syndrome and mutations of the WRN and LMNA genes in France.

Werner syndrome (WS) is a pleiotropic disease of premature aging involving short stature, tight, atrophied, and/or ulcerated skin; a characteristic 'birdlike' facies and high, squeaky or hoarse voice; premature greying and thinning of the hair; and early onset cataracts. Additional common symptoms include diabetes mellitus, hypogonadism, osteoporosis, osteosclerosis of the digits, soft tissue calcification, premature atherosclerosis, rare or multiple neoplasms, malformed teeth, and flat feet. Diagnosis can be difficult due to the variable presentation and rarity of the disorder. Transmission is usually autosomal recessive. The WS gene, WRN, is member of the RecQ DNA helicase family. Biallelic mutations of WRN are responsible for most patients. Although heterozygous missense mutations in the LMNA gene have been observed in severely affected WS patients, this only accounts for a small fraction of non-WRN patients. Eighteen WS cases were referred to us for molecular analysis. Eleven had definite and three had probable WS according to the University of Washington Registry clinical criteria. All exons of the WRN gene and their splice junctions were sequenced. Of the fourteen definite or probable cases, 11 had one or more WRN mutation. Thirteen different mutations were found, and ten of these were previously undescribed. There were few phenotypic differences between patients with WRN mutation(s) and those who met clinical criteria though lacking WRN mutations. However, patients with mutations tended to have more symptoms overall, and mutations were not observed in the two cases with cardiomyopathy.

Adult↗

Diagnosis and management of patients with thyroid nodules.

Fewer than 5% of all adults will have a palpable thyroid nodule, but this is still a large number of individuals who require evaluation. Although most thyroid nodules are a result of a benign disease process (more than 95%), the possibility of thyroid cancer is always a consideration. Important aspects of history taking with a patient in whom a thyroid nodule has been noted include age, gender, family history of thyroid or endocrine disease, prior low dosage head and neck radiation, recent hoarseness, dysphagia, and symptoms of hypermetabolism. Key features of evaluation by physical examination are the size and location of the thyroid abnormality, the degree of firmness of the nodule, the presence of other nodules in the thyroid, palpable cervical lymph nodes, vocal cord paresis or paralysis, and tachycardia and/or tremor. The major categories of thyroid abnormality in such patients include cysts, adenomas, thyroiditis, and cancer. Although radionuclide scans, ultrasound examination and computer tomography have all been employed in the assessment of thyroid nodules, and thyroid stimulating hormone assay is useful for confirming a euthyroid state, fine needle aspiration biopsy (FNAB) has proved to be the most efficient diagnostic tool. The findings from FNAB allow avoidance of operative treatment for a large portion of these patients with palpable thyroid nodules, but a diagnosis of "follicular neoplasm" on FNAB usually requires operation, despite the fact that many such patients do ultimately prove to have a benign lesion. The extent of operation in patients undergoing surgery will depend on the diagnostic findings before operation, but unilateral thyroid lobectomy is the minimum procedure when surgery is required.

Adult↗

Localized laryngeal lymphoma.

A 23-year-old man with a 3-month history of hoarseness was found to have a polypoid histiocytic lymphoma arising from the anterior commissure and the adjacent epiglottis. Work-ups including a staging laparotomy were negative. Irradiation of 4,400 rads to the larynx was given. The patient was disease-free 3 1/2 years after diagnosis.

Adult↗

Complications of transhiatal esophagectomy.

A total of 23 papers published between 1981 and 1992, reporting a total of 1,353 patients, were reviewed for intraoperative and postoperative complications of transhiatal esophagectomy. Intraoperative complications included massive bleeding, tracheal injuries, cardiac arrhythmias, and incidental splenectomies. Even though the chest was not opened, the commonest postoperative complications were pulmonary. Leakage from the cervical anastomosis was seen in as many as 15% of all patients, but almost all resolved spontaneously. Postoperative benign strictures were seen in almost as many patients. Hoarseness due to recurrent laryngeal nerve injury, symptomatic gastro-esophageal reflux, chylothorax, Horner's syndrome, subphrenic abscess, hiatal hernia, and biliary cutaneous fistula were some of the other postoperative complications. An overview of these complications is presented, along with suggested methods of avoiding them and their treatment. The overall mortality for the 1,353 patients was 7.17%.

Esophageal Neoplasms↗

Carotid artery aneurysms: an otolaryngologic perspective.

Aneurysms of the carotid arteries are relatively rare and can present difficult diagnostic problems. They may occur anywhere along the course of the carotid artery in its cervical route, petrous portion, or intracranial extension. The associated clinical findings may range from a simple neck mass to a variety of neurologic deficits. Symptoms of headache, facial pain, tinnitus, vertigo, epistaxis, hoarseness, and dysphagia may require otolaryngologic evaluation. The high morbidity and mortality associated with the natural history of carotid aneurysms makes their early detection essential. Although these lesions have been a subject of great interest in the neurological and neurosurgical literature, surprisingly little has been written to bring them to the attention of otolaryngologists. A review of the literature and an assessment of 10 cases of extracranial carotid aneurysms treated at the University of Pennsylvania in the past 10 years form the basis of this report. Patients with aneurysms involving various portions of the carotid system are presented to illustrate the numerous head and neck manifestations these lesions produce. Differential diagnosis, etiology, natural history, and current management of carotid aneurysms are discussed.

Aged↗

Sternohyoid myofascial flap reconstruction of the larynx for vertical partial laryngectomy.

Reconstruction of the larynx for vertical partial laryngectomy is of paramount importance in eventual voice and deglutition rehabilitation. Many different methods of laryngeal reconstruction have been tried attesting to the challenge of minimizing hoarseness and aspiration after this type of surgery. During the past decade the scope of partial laryngeal surgery has broadened, mandating more extensive reconstructive procedures in order to acceptably rehabilitate upper aerodigestive function. During the past 6 years the author has employed a superiorly-based sternohyoid myofascial flap to reconstruct the larynx after vertical partial laryngectomy in 31 patients. Swallowing was resumed in all patients without significant aspiration. Although decannulation was delayed in 8 patients, all patients were eventually extubated. Voice quality was considered far superior to other reconstructive methods formerly used by the author.

Humans↗

The otolaryngologic manifestations of gastroesophageal reflux disease (GERD): a clinical investigation of 225 patients using ambulatory 24-hour pH monitoring and an experimental investigation of the role of acid and pepsin in the development of laryngeal injury.

Occult (silent) gastroesophageal reflux disease (GER, GERD) is believed to be an important etiologic factor in the development of many inflammatory and neoplastic disorders of the upper aerodigestive tract. In order ot test this hypothesis, a human study and an animal study were performed. The human study consisted primarily of applying a new diagnostic technique (double-probe pH monitoring) to a population of otolaryngology patients with GERD to determine the incidence of overt and occult GERD. The animal study consisted of experiments to evaluate the potential damaging effects of intermittent GER on the larynx. Two hundred twenty-five consecutive patients with otolaryngologic disorders having suspected GERD evaluated from 1985 through 1988 are reported. Ambulatory 24-hour intraesophageal pH monitoring was performed in 197; of those, 81% underwent double-probe pH monitoring, with the second pH probe being placed in the hypopharynx at the laryngeal inlet. Seventy percent of the patients also underwent barium esophagography with videofluoroscopy. The patient population was divided into seven diagnostic subgroups: carcinoma of the larynx (n = 31), laryngeal and tracheal stenosis (n = 33), reflux laryngitis (n = 61), globus pharyngeus (n = 27), dysphagia (n = 25), chronic cough (n = 30), and a group with miscellaneous disorders (n = 18). The most common symptoms were hoarseness (71%), cough (51%), globus (47%), and throat clearing (42%). Only 43% of the patients had gastrointestinal symptoms (heartburn or acid regurgitation). Thus, by traditional symptomatology, GER was occult or silent in the majority of the study population. Twenty-eight patients (12%) refused or could not tolerate pH monitoring. Of the patients undergoing diagnostic pH monitoring, 62% had abnormal esophageal pH studies, and 30% demonstrated reflux into the pharynx. The results of diagnostic pH monitoring for each of the subgroups were as follows (percentage with abnormal studies): carcinoma (71%), stenosis (78%), reflux laryngitis (60%), globus (58%), dysphagia (45%), chronic cough (52%), and miscellaneous (13%). The highest yield of abnormal pharyngeal reflux was in the carcinoma group and the stenosis group (58% and 56%, respectively). By comparison, the diagnostic barium esophagogram with videofluoroscopy was frequently negative. The results were as follows: esophagitis (18%), reflux (9%), esophageal dysmotility (12%), and stricture (3%). All of the study patients were treated with antireflux therapy. Follow-up was available on 68% of the patients and the mean follow-up period was 11.6 +/- 12.7 months.(ABSTRACT TRUNCATED AT 400 WORDS)

Adult↗

Congenital lobar emphysema: evaluation and long-term follow-up of thirty cases at a single center.

Congenital lobar emphysema (CLE) is characterized by overdistension and air-trapping in the affected lobe, and is one of the causes of infantile respiratory distress. In this report, we review our 27 years of experience with 30 CLE patients. Patients' medical records were evaluated with regard to age, clinical presentation, diagnostic methods, associated diseases, treatment, histopathologic findings, and final clinical and laboratory findings at the end of a long-term period. The mean age of 30 patients (18 male) at diagnosis was 4.9 +/- 6.7 months (range, 2 days-2.5 years). Tachypnea, dyspnea, cough, cyanosis, wheezing, hoarseness, and decreased breath sounds on the affected side were the main symptoms and clinical findings. On chest X-rays, emphysema was seen in all patients; shift/herniation to the opposite lung, atelectasis, and pneumothorax were observed in 16, 5, and 2 cases, respectively. Computerized tomography of the thorax was performed in 16 cases and revealed emphysema at affected lobe/lobes in all, a shift/herniation to the opposite side in 12 cases, and atelectasis of neighbor lobe/lobes in 7 cases. All 8 patients who had perfusion scintigraphy showed reduced perfusion in the affected lobe. Narrowed and flaccid bronchi were detected in one patient by using flexible bronchoscopy. Blood gas analysis was performed in 11 patients, and hypoxia and hypercarbia were revealed in 9 and 7 of these patients, respectively. The most common affected lobe was the left upper lobe (57%), followed by the right upper lobe (30%) and right middle lobe (27%). Two lobes were involved in 4 patients. Associated abnormalities were observed in 5 patients. Twenty-one patients underwent lobectomy; 9 were followed conservatively. Ages at diagnosis were significantly younger in surgically treated patients. Emphysema was detected in all pathological specimens, with an additional bronchial cartilage deficiency in 2 patients. In the surgically treated group, 2 patients died and 2 patients were lost to follow-up. In the conservatively treated group, one patient was lost to follow-up. Mean follow-up duration of all patients was 63.2 +/- 56.2 months (range, 1-209 months). At follow-up visits, all patients were doing well. In surgically treated patients, chest X-rays were normal (9 cases), or showed hyperlucency on the operated side (6 cases) or chronic changes in the operation area (2 cases). Hyperexpansion in the affected lobe was found to be reduced in all cases in the conservatively treated group.

Adolescent↗

Recurrent respiratory papillomatosis in a survivor of extreme prematurity.

Recurrent respiratory papillomatosis (RRP) is a rare disease in children. Previous reports suggested that prematurity and early age of presentation were poor prognostic factors. We report on a 24-week premature infant who presented with stridor, weak cry, and hoarseness of voice at age 9 months (corrected age), in whom the diagnosis of RRP was not made until age 21 months (corrected age). Laser excision of RRP was subsequently performed, and the child is still surviving at age 2.5 years. RRP should be considered in the differential diagnosis of airway problems in survivors of extreme prematurity; the prognosis is not uniformly poor in premature infants.

Endoscopes↗

Human acid ceramidase gene: novel mutations in Farber disease.

Farber disease is an autosomal recessive disorder caused by lysosomal acid ceramidase (AC) deficiency. It commonly manifests during the first few months after birth with a unique triad of painful and progressive deformed joints, subcutaneous nodules, and progressive hoarseness. In order to understand the molecular mechanism(s) of pathogenesis of Farber disease, we isolated and characterized a full-length human AC gene, mapped its chromosomal location, determined the tissue-specific expression, and analyzed mutations in Farber disease patients. We also studied the AC-mRNA expression in gastrointestinal tumors and adjoining normal tissues. In addition, we determined the pattern of tissue-specific AC-mRNA expression in the adult mouse and during fetal development. Our results show that human AC gene consists of 14 exons and 13 introns spanning approximately 26.5 kb of genomic DNA. It is mapped to human chromosome 8p22-21.2, a region often disrupted in several cancers. The AC-mRNA is expressed in the mouse fetus from the seventh day of gestation. Interestingly, while the AC-mRNA is expressed in all segments of the normal gastrointestinal tract, none of the gastrointestinal tumor tissues had any AC-mRNA expression. We also uncovered four novel mutations in Farber disease patients that were not previously reported. Taken together, our results not only attest to the physiological importance of AC but also uncover several new mutations in Farber disease that may advance our knowledge towards establishing a genotype-phenotype correlation in this disease.

Acid Ceramidase↗