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PubMed2000

Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome--another locus for Brachmann-de Lange syndrome on 4p?

We describe a 3-year-old girl with partial trisomy 4p and partial monosomy 8p who had prenatal and postnatal growth retardation, mental retardation, no speech development, mild synophrys, hirsutism, apparently low-set ears, dysphonic hoarse voice, hyperactivity, and small hands with proximal placement of the thumbs. She had recurrent lung infections, due to earlier aspiration and immune deficiency (chronic granulomatous disease). Cytogenetic findings in this and other cases with suggestive phenotype may point to an additional locus for Brachmann-de Lange phenotype.

Child, Preschool↗
PubMed1999

Atypical chondroma of the cricoid cartilage: fine-needle aspiration cytologic and histopathologic findings.

Chondroma of the laryngeal skeleton is a rare, benign neoplasm manifested either as a neck mass or, if situated within the airway, as slowly progressive obstruction, hoarseness, or dyspnea. The most common site is the posterior plate of the cricoid cartilage. An atypical perichondrial chondroma arising from the anterior plate of the cricoid cartilage membrane as a neck mass in a young female is presented. The diagnosis was made on a fine-needle aspiration of the mass and subsequently confirmed by histologic examination of the excised mass. Although rare, cartilaginous tumors of the laryngeal skeleton can manifest as a neck mass, and the diagnosis can be made by fine-needle aspiration biopsy in combination with radiographic and clinical examinations. Therefore, the existence and inclusion of these tumors in the differential diagnosis of neck masses by aspiration biopsy should be considered by clinicians and pathologists, and especially cytopathologists, when cartilaginous components are encountered.

Adult↗
PubMed1999

Atypical presentations of actinomycosis.

BACKGROUND: Actinomycotic infections of the cervicofacial region are uncommon. Most major medical centers report approximately one case per year. Presenting clinical manifestations are confusing because they often mimic other disease processes. Diagnosis may be difficult due to a general lack of familiarity with the disease and the fastidious nature of the organism in culture. The cervicofacial manifestations of actinomycosis are varied, and a high index of suspicion is required to make an accurate and timely diagnosis. METHODS: Retrospective chart review with the presentation of four unusual cases of actinomycosis were performed. RESULTS: Two patients were initially seen with dysphagia from a tongue base mass. The third patient was initially seen with a 3-week history of worsening hoarseness and stridor. Examination revealed an ulcerative lesion of the left hemilarynx and pyriform sinus. All three patients were thought to have a neoplastic process. Diagnosis was made on histologic examination of a tissue biopsy. The fourth patient was initially seen with a buccal space mass that was draining externally. Culture of the purulent drainage revealed Actinomyces. In all four cases, symptoms resolved after appropriate antimicrobial therapy. CONCLUSIONS: Actinomycosis of the head and neck, although rare, is an important entity to the otolaryngologist. A confusing clinical presentation combined with the fastidious nature of the organism make for a difficult diagnosis. A high index of suspicion is required to make an accurate diagnosis and institute the appropriate antibiotic therapy.

Actinomycosis, Cervicofacial↗
PubMed1999

A new role for magnetic resonance imaging in the diagnosis of laryngeal relapsing polychondritis.

BACKGROUND: Relapsing polychondritis involving the upper airway is a rare cause of airflow obstruction and hoarseness. The diagnosis of relapsing polychondritis depends on clinical signs, characteristic findings on cartilage biopsy, and response to treatment. Delays in diagnosis and treatment can increase the morbidity and mortality of the disease. METHODS: We present a case report of primary laryngeal relapsing polychondritis. RESULTS: Serologic testing, direct laryngoscopy, and endoscopic biopsy could not establish the diagnosis of relapsing polychondritis. Magnetic resonance imaging (MRI) examination demonstrated findings consistent with the histopathological diagnosis obtained on open biopsy. Follow-up MRI after treatment showed resolution of the initial findings. CONCLUSION: This case demonstrates the usefulness of MRI in the diagnosis and management of relapsing polychondritis involving the upper airway.

Female↗
PubMed1999

Vallecular cysts in newborns and young infants.

Vallecular cyst is a rare cause of stridor and respiratory distress in infancy and has been associated with sudden airway obstruction resulting in death. In a retrospective review of eight cases over a 20-year period all infants developed symptoms during the first week of life. All had stridor and feeding difficulties and two required endotracheal intubation. Other common findings included signs of increased work of breathing and episodes of cyanosis. Failure to thrive was present in five patients diagnosed later than the first week of life. An abnormal or a hoarse cry was present in only two patients. Diagnosis in all cases was made by endoscopy. Where a VC is clinically suspected, it is important to stress the need to visualize the base of the tongue during any diagnostic endoscopic procedure. At endoscopy, a smooth localized mass arising from and distorting the lingual surface of the epiglottis was identified. Histologically, the cysts contained respiratory epithelium with mucous glands with an external lining of squamous epithelium. Treatment by cyst marsupialization is safe and definitive, in particular when performed by CO2 laser.

Airway Obstruction↗
PubMed1975

Synovial sarcoma of the neck: a followup study of 24 cases.

This article reviews the clinicopathologic features and the biological behavior of 24 cases of synovial sarcoma that took origin from the cervical prevertebral connective tissue space and manifested as a retropharyngeal tumor or as a palpable mass in the anterior or posterior cervical triangle. The age of the 24 patients ranged from 10 to 51 years, with a median of 19 years. Ten patients were women and 14 men. Hoarseness or difficulty in breathing or swallowing were the first symptoms in eight patients. The tumors were solitary and ranged from 2 to 10 cm in greatest dimension. Microscopically, all of the cases showed the characteristic biphasic cellular pattern of a synovial sarcoma, with epithelioid and fibrosarcoma-like areas in varying proportions. Synovioblastic origin of the neoplasm was confirmed by the results of histochemical staining procedures and, in 1 case, by the examination with the electron microscope. Of the 21 cases followup information, 12 had died (10 with pulmonary metastasis) and 9 were alive and free of symptoms. Prompt and complete surgical removal is required to prevent complications from recurrent tumor growth or metastasis.

Adolescent↗
PubMed1978

Osteosarcoma of the soft tissue of the larynx: report of a case with light and electron microscopic studies.

A case of osteosarcoma arising in the soft tissue of the larynx in an elderly man is presented with light and electron microscopic documentation. The patient developed chronic hoarseness and a recurring polypoid laryngeal tumor, causing acute airway obstruction. He was treated by total laryngectomy, but he died with multiple pulmonary metastases within three months of laryngectomy. This is the third (or possibly fourth) recorded case of osteosarcoma arising in the soft tissues of the larynx, and the previous cases were clinically and pathologically similar to this one. The prognosis of sarcoma of the larynx is poor but may be improved with early recognition and adequate surgical excision.

Aged↗
PubMed1980

Carcinoma of the larynx in childhood.

The unusual case of a 12-year-old boy with well differentiated in situ, and focally invasive squamous carcinoma of the larynx is reported, together with a review of the medical literature. In addition to this one, 54 cases of laryngeal carcinoma in children 15 years of age or younger have been reported since 1868. All were squamous except for one adenocarcinoma of a laryngeal minor salivary gland. Carcinoma of the larynx in children parallels that of adults in terms of squamous histology, predominantly vocal cord involvement, pattern of local spread, and response to treatment. However, the incidence of female patients is higher in childhood (40% of childhood cases vs. less than 10% of adult cases), and risk factors, except previous irradiation of papillomas, are rare. Although unusual, carcinoma of the larynx in children is probably more common than thought and the diagnosis should be considered in any case of a child with persistent hoarseness or cough.

Adolescent↗
PubMed1981

Head and neck cancer: early detection.

Tumors of the head and neck have a wide variety of presentations. Simply stated however, a sore or soreness that persists, a lump that persists, particularly if non-tender, or evidence of nerve dysfunction such as hoarseness, facial weakness, or dysphagia should alert the astute observer to the probable existence of a neoplastic rather than an inflammatory process. High-risk factors brought out in a careful history enhance the probability. Careful inspection and palpation may reveal the probable diagnosis. A skillful biopsy is essential. In this regard, aspiration needle biopsy as well as large gauge needle biopsy are receiving renewed interest. Our colleagues in biochemistry, radiology, and nuclear medicine are providing increasing support in detection and delineation of extent of tumor for the physician. Biochemical studies, particularly for the detection and delineation of extent of tumor for the physician. Biochemical studies, particularly for the detection of thyroid cases, are important. Ultrasound equipment is being developed that may give much improved delineation of lesion consistency. Xerography is superior in some instances to radiography. Nuclear scanning remains integral in the evaluation of thyroid nodules. Modifications upgrading computerized axial tomography apparatus show promise of giving better delineation of the extent of disease. Arteriography remains essential in the diagnosis of carotid body tumors.

Adult↗
PubMed1981

Nonfunctional paraganglioma of the larynx: clinical and pathological considerations.

Paraganglioma of the larynx is a rare neoplasm. A review of the 16 previously reported cases in English medical literature is presented along with the details of an additional case. The tumor was analyzed by light and electron microscopy. The anatomy and embryology of the laryngeal paraganglia and controversies in nomenclature are discussed. Hoarseness, pain, dysphagia, and neck mass are the cardinal symptoms of this neoplasm; other clinical characteristics are reviewed. Partial laryngectomy and excision via lateral pharyngotomy and extralaryngeal approaches are the most commonly employed methods of treatment. More aggressive therapy including radical neck dissection, total laryngectomy, and radiation therapy have been used for malignancies.

Aged↗
PubMed1983

Primary anaplastic small cell (oat cell) carcinoma of the larynx. Review of the literature and report of 18 cases.

Anaplastic small cell (oat cell) carcinoma is a neoplasm commonly arising in the lungs. However, it may also occur, though rarely, in the larynx. A series of 43 cases is presented (ten cases from the Armed Forces Institute of Pathology, eight from the Department of Otolaryngology of the Padua University, and 25 from the literature). The tumor often presents in the sixth and seventh decades of life and appears to be highly aggressive, and metastases develop early. The most common presenting symptom is hoarseness. As in pulmonary small cell carcinoma, prognosis is poor and does not seem to depend upon therapeutic modalities, tumor location or the extent of initial local disease. The tumor seems to derive from the Kulchitsky cell present not only in the bronchial mucosa but also in the laryngeal lining. Like pulmonary anaplastic small cell carcinoma, small cell carcinoma of the larynx should be treated with systemic chemotherapy and radiotherapy. The association of small cell carcinoma with squamous carcinoma of the larynx is also reported and problems connected with the histogenesis of this mixed tumor are discussed.

Adult↗
PubMed1983

Metastatic cancer to the larynx. Diagnosis and management.

A case of metastatic tumor in the larynx following successful treatment of a breast carcinoma and a colon carcinoma is presented. The lesion was visible by indirect laryngoscopy, and computed tomography of the larynx assisted in delineating the extent of the disease. The separation of primary adenocarcinoma of the larynx from metastases is discussed, as is the identification of the origin of a metastasis where two separate primaries have existed. Other reports of cancer metastatsizing to the larynx are reviewed. Tumor spread to the larynx may be asymptomatic or may result in hoarseness, stridor and/or airway obstruction.

Adenocarcinoma↗
PubMed1984

Non-Hodgkin's lymphoma limited to the larynx.

A case of primary laryngeal non-Hodgkin's lymphoma is detailed, with a review of the reports in the English literature on this rare site of presentation. Symptoms at onset generally include hoarseness, and may be observed up to 60 months prior to diagnosis. Four of the five cases classified by the Rappaport system are of diffuse histology. The histologic distinction of true lymphoma from pseudolymphoma, which may mimic lymphoma both grossly and microscopically, is reviewed. Local radiotherapy is a curative treatment of choice, with 16 of 18 cases disease-free throughout follow-up.

Aged↗
PubMed1985

Radiation therapy treatment of larynx cancers.

Cancers in the mouth and throat area comprise only 5% of all cancers seen in the US. Because of their critical location and the various consequences of treatment, they produce a devastating impact on the quality of life. Of the many anatomic sites in the upper air and food passages, the oral cavity and larynx are involved with cancer in two thirds of the patients. In the oral cavity, less than 50% of the cancers are diagnosed when the disease is still localized, leading to a generally poor overall result. In the larynx, two thirds of the primaries arise in the glottis where hoarseness stimulates early diagnosis, leading to an excellent prognosis. Treatment strategies must be directed toward the observed patterns of failure. For mouth and throat cancers, even when modestly advanced, distant failure is observed in fewer than one third of the patients. Control of the disease in the primary site and regional node stations generally employs aggressive use of surgery, radiation therapy, or a combination of the two. More recently, the use of chemotherapy programs combined with either surgery or radiation therapy has been of benefit to patients with advanced lesions. The choice of a specific management program depends upon (1) the cancer control to be expected, (2) the effectiveness of a possible salvage treatment program, and (3) the quality of life experienced by the successfully treated patient. Radiation therapy is increasingly becoming the treatment of choice for early carcinomas of the larynx. Recently published results from four major institutions embracing over 4000 patients suggest radiation therapy cure rates for T1 lesions of 90% and T2 lesions of 70%, with the successful salvage by surgery of more than 50% of the radiation therapy failures, bringing the ultimate cure rate to over 95% for T1 lesions and over 85% for T2 lesions. The excellent results coupled with the good quality of life mandates this approach. Surgical alternatives are more frequently suggested for T3 lesions or for supraglottic lesions. Primary radiotherapy for T3 glottic lesions currently cures more than 50% of such patients with surgical salvage, bringing the total cure rate to 75%. Also two thirds of the cured patients retain their functioning larynx, increasing consideration must be given to primary radiation therapy and surgical salvage for these more advanced glottic lesions.(ABSTRACT TRUNCATED AT 400 WORDS)

Combined Modality Therapy↗
PubMed1988

Moderately differentiated neuroendocrine carcinoma of the larynx. A clinicopathologic study of 54 cases.

Fifty-four cases of primary laryngeal moderately differentiated neuroendocrine carcinoma from the Armed Forces Institute of Pathology Otolaryngic Tumor Registry (AFIP-OTR) are reported. The tumors most often present in men in their sixth and seventh decades of life and are heralded by an array of symptoms, the most frequent being hoarseness. The primary site was most often the supraglottic larynx. The investigation has included light-microscopic, histochemical, immunocytochemical, and electron microscopic analyses which support expression of both neuroendocrine and epithelial differentiation. Conservative surgery alone can be utilized if early identification of the tumor and complete surgical removal are assured. The follow-up of the patients reveals 62% as remaining tumor-free after surgical extirpation over periods ranging from 1 month to 16 years (median: 3 years, 9 months). Factors adversely affecting prognosis include metastatic disease at initial presentation, incomplete surgical removal, and vascular or lymphatic invasion. There was no correlation between tumor size, morphologic pattern, mitoses or necrosis, and survival. Sixty-eight percent of the patients gave a history of long-term cigarette smoking. The classification and pathogenesis of these neoplasms remains the focus of much speculation. They are suggested as arising from the cells of the dispersed neuroendocrine system (DNES). However, a more uniform and descriptive nomenclature is necessary. This study resolves this and other issues along with a presentation of clinicopathologic data of the tumor entity.

Adult↗
PubMed1995

Laryngeal mucosal malignant melanoma. A clinicopathologic, immunohistochemical, and ultrastructural study of four patients and a review of the literature.

BACKGROUND: Primary laryngeal mucosal malignant melanomas are uncommon tumors that morphologically are readily confused with more common types of laryngeal cancer. METHODS: Four cases of primary laryngeal mucosal malignant melanoma were identified from the files of the Otolaryngic Tumor Registry-Armed Forces Institute of Pathology. Clinical records were available for all four cases. Paraffin blocks or unstained slides were available for three of the four cases. The light microscopic features were evaluated in all cases. Immunohistochemistry was performed in three cases; electron microscopic analysis was performed in two cases. Follow-up data was available in three of the four cases. RESULTS: The patients were all males and ranged in age from 35 to 84 years. The clinical presentations included hoarseness, hemoptysis, dysphagia, and airway obstruction, with complaints ranging from 1 to 8 months. The sites of involvement included the supraglottic larynx and the right true vocal cord. A history of cutaneous melanoma or of a melanoma of another site was not reported for any of the patients. Histologically, the tumors were invasive and composed of a pleomorphic epithelioid cell population of malignant cells. Malignant spindle-shaped cell could also be identified. The presence of melanin was identifiable by light microscopy in two cases; Fontana stains confirmed the presence of melanin in the other two. The immunohistochemical findings showed diffuse immunoreactivity with S-100 protein and HMB-45. There was no immunoreactivity with cytokeratin. The specimen of one patient demonstrated focal immunoreactivity with chromogranin. Electron microscopic features included the presence of premalonosomes or melanosomes. Total laryngectomy was the treatment of choice supplemented with radiotherapy. Follow-up information was available for three patients and all three died of metastatic disease within 36 months of diagnosis. Metastasis occurred to the brain, lungs, spine, and regional lymph nodes. The fourth patient was lost to follow-up. CONCLUSIONS: Laryngeal mucosal malignant melanoma is an uncommon neoplasm that clinically and pathologically simulates more conventional types of laryngeal cancers. The light microscopic, immunohistochemical, and electron microscopic findings confirm the diagnosis. Aggressive management is indicated, as these tumors disseminate widely and are rapidly fatal.

Adult↗
PubMed2000

Analysis of messy longitudinal data from a randomized clinical trial. MRC Lung Cancer Working Party.

The randomized clinical trial, LU19, conducted by the Medical Research Council Lung Cancer Working Party, was designed to compare ACE (doxorubicin, cyclophosphamide and etoposide) chemotherapy plus G-CSF (granulocyte colony-stimulating factor) at 2-week intervals versus ACE chemotherapy alone at standard 3-week intervals in patients with small-cell lung cancer. This trial investigated whether more intensive administration of ACE would improve overall survival and affect the quality of life of patients. The report on overall survival and other outcome measures will be published in the Journal of Clinical Oncology. In this paper we focus on methods of analysing aspects of data reflecting quality of life. Twelve symptoms of lung cancer and its treatment - cough, haemoptysis, pain, nausea, vomiting, hoarse voice, sore mouth, rash, lethargy, lack of appetite, alopecia, and dysphagia - were scheduled to be assessed on seven occasions for the ACE arm and on eight occasions for the ACE+G-CSF arm by clinicians during the first 18 weeks of the treatment period. However, in practice the number of assessment forms completed per patient ranged from 1 to 9, and assessment time-points were very different from those planned. These 'messy' longitudinal data are explored by both a summary measure approach, in which experience of a symptom is summarized by a single value, and an extensive model-based statistical approach, which explicitly takes into account correlation within repeated measures. These analyses provide a clear picture of symptom comparisons between the two treatments. The application of various methods offers not only an approach to assessing the robustness of the results but also a basis for investigating reasons for inconsistency of results across methods. We conclude that except lethargy, which is worse in the ACE+G-CSF arm, all symptoms are similar across the two arms during the treatment period.

Amsacrine↗
PubMed2006

Humidified air inhalation for treating croup.

BACKGROUND: Croup (laryngotracheobronchitis) is a common cause of upper airway obstruction in children with a peak incidence of 60 per 1000 child years in those aged between one and two years. It is characterised by hoarseness, a barking cough, and inspiratory stridor. These symptoms are thought to occur as a result of oedema of the larynx and trachea, which have been triggered by a recent viral infection. Para influenza virus type 1 is the agent most commonly identified in cases of croup. Severe cases are admitted to hospital and steroid treatment is established to reduce disease severity. Treatment with humidified air was previously widely used and is still commonly recommended as home treatment. OBJECTIVES: To assess the efficacy of humidified air in the treatment of croup. SEARCH STRATEGY: We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library Issue 4, 2005), MEDLINE (1966 to January 2006) and EMBASE (1990 to January 2006). SELECTION CRITERIA: Randomised controlled trials (RCTs) involving children suffering from croup treated with humidified air. DATA COLLECTION AND ANALYSIS: Two authors independently identified potentially relevant abstracts identified from the search and then assessed the full papers for inclusion and methodological quality. Outcome measures included mortality, ventilation, admission to hospital, re-contact with medical services, number of days off school and relief of symptoms; these were separately analysed for the week following treatment. Data extraction was performed by the two authors then entered by one and checked by the second author. Missing data were obtained from trails authors where possible. Data were analysed using Review Manager version 4.2. Sensitivity and sub-group analysis were not possible due to the paucity of trials. MAIN RESULTS: Three studies in emergency settings provided data on 135 patients with moderate croup for the main outcome (croup score). The combined results from 20 to 60 minutes in the three studies marginally favoured the treatment group with a weighted standardised mean difference of -0.14 (95% confidence interval (CI) -0.75 to 0.47). No other outcomes were significantly different between the groups. AUTHORS' CONCLUSIONS: The croup score of children managed in an emergency setting with mild to moderate croup probably does not improve greatly with inhalation of humidified air. Further research is needed in primary care settings, using a wider range of more sensitive outcome measures.

Air↗