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The Wiskott-Aldrich-syndrome belongs to the phakomatoses. The hereditary transmission happens x-chromosomal recessive in the domain of Xp 11.3-Xp 11.22. Clinical evidence for that is given by thrombocytopenia, an eczema and a weakness of the immune system with a subsequent increased risk of frequent infections and a predisposition for a malignancies. A further characteristic of that disease is recurrent otitis media as described by Aldrich in 1954.The case--as described above--is about a 28-year-old male patient developing an acute deafness on the left ear while he has been suffering from a surditas on the right ear for 5 years. 8 years ago a splenectomy was made, because of persistent thrombocytopenia. An additional clinical characteristic was a hemiballism, arising after a thalamusbleeding 5 years ago, a both-sided vestibular failure concerning both that has been existing for 2 years, as well as a maculopathia with a highly reduced visus on both sides.The deafness arising in patients suffering from the Wiskott-Aldrich-syndrome represents a so far not described symptom of that illness.

Carcinoma of unknown primary is defined as histological diagnosis of metastasis without diagnosis of a primary tumor. The incidence of CUP is stated in the literature between 3 % and 15 % of all patients with an malignant disease. Histological examination of CUP-metastasis of the neck most frequently shows a squamous cell carcinoma. A retrospective study of patient data was undertaken.The study included 167 patients admitted and treated for cervical CUP at the department of Oto-Rhino-Laryngology, Klinikum Grosshadern from 1979 to 1998. Cervical swelling was the first noted symptom in all cases. Other symptoms were pain and dysphagia. Of the 167 patients 134 were men and 33 were women. The average age at admission was 55 years. In the studied collective squamous cell carcinoma had the highest incidence (n = 123). During the 10 year follow-up a primary tumor was found in 36 of the 167 initially diagnosed CUP-patients. In over 90 % of these cases the tumor was localized in the head and neck region. The origin of the tumor was most frequently the tonsilla palatina (n = 7). Of the 167 patients included in the study 118 patients (70,7 %) underwent surgery and additional postoperative radiotherapy. Primary radiotherapy was the treatment of choice in 28 patients, 8 patients received combined radio-chemotherapy as primary treatment and 7 patients were treated with chemotherapy alone. No treatment was performed in 6 patients.By comparing the treatment methods there was a significant difference of patient survival in regard to the treatment. Patients treated according to treatment-plan II, which includes an additional "diagnostic" tonsillectomy, is significantly higher than that of patients simply undergoing neck dissection and postoperative radiotherapy or primary radiotherapy alone. Treatment of choice in patients with cervical CUP should be a surgical procedure including radical neck dissection and diagnostic bilateral tonsillectomy followed by postoperative radiation of the cervical lymph drainage.Bilateral tonsillectomy is especially important and is correlated with a significant improvement of the survival rate in CUP patients. Additional postoperative radiation of the pharynx from the base of the skull to the upper oesophagus should also be considered, in order to treat a possible--small--primary tumor in this region.

Patients with gastroesophageal reflux disease (GERD) may suffer from a large variety of symptoms in the upper aerodigestive tract such as globus sensation, chronic cough, hoarseness and many others. Diagnosis and causal therapy may sometimes be difficult with gastroenterologic evaluation sometimes revealing no pathologic result. The objective of this study was to determine the impact of 24-hour intraesophageal pH monitoring with 2 channels (gastric and laryngeal) in the diagnosis of reflux-induced otolaryngologic disorders.This study included 22 patients presenting to the Department of Otolaryngology with symptoms like chronic cough (n = 3), globus sensation and dysphagia (n = 11), heartburn (n = 2), hoarseness and dysphonia (n = 2) or burning sensation of the tongue (n = 1). Three patients had a pathologic formation in the glottic area (leukoplakia, granuloma, polyp). All patients underwent a otolaryngological examination, a gastroenterological investigation and a 24-hour intraesophageal pH monitoring with 2 channels.All 22 patients showed laryngeal mucosal lesions (posterior laryngitis). The gastroenterological evaluation with esophagogastroduodenoscopy was normal in 4 cases. 13 patients showed a hiatal hernia, 4 patients were suffering from a reflux-esophagitis grade I and 2 patients from grade II. One patient had an erythema and 5 patients showed erosions of the gastric mucosa. Seven patients had more than one of the above mentioned diagnoses. Intraesophageal pH-monitoring with 2 channels over 24 hours revealed a gastroesophageal reflux of all 22 patients and a high reflux to the laryngeal level of 21 patients, probably causing laryngopharyngeal symptoms. Therapy of the patients consisted of medical antireflux treatment with proton pump inhibitor esomeprazol (Nexium, 40 mg, 1-0-0). Within 4 weeks 15 of 22 patients had no more laryngopharyngeal symptoms or at least a significant reduction.Patients with laryngopharyngeal symptoms such as hoarseness, globus sensation or dysphagia can suffer from GERD, even if typical symptoms such as heartburn or retrosternal pain do not exist and gastroesophageal intervention reveals a normal result. The best diagnostic instrument for the diagnosis of reflux-induced otolaryngologic disorders is a 24-hour intraesophageal pH-monitoring with 2 channels (measure-points at the distal esophagus and laryngeal level). Medical antireflux treatment should consist of proton pump inhibitors (e. g. Nexium) in a dose of 40 mg per day over at least 4 weeks.

For a long time heartburn was not considered a symptom for serious illness. By now, however, it is accepted that the incidence of secondary carcinoma of the esophagus caused by chronic GERD has increased dramatically since the nineteen-seventies. Mechanisms leading to GERD are complex and its incidence is not necessarily pathological. However pathological reflux in the lower esophagus (pH lower than 4 in 6 % of 24 hours), caused by decreased sphinctertonus, impaired peristalsis and clearance of the esophagus, may lead to complications. Helicobacter pylori may play a key role in GERD. There is strong evidence for a protective effect of Hp-infection in the development of GERD. In pangastritis, caused by Hp-infection, gastric acid production is inhibited resulting in a reduction of stomach-acid-concentration. This may be caused by either the chronic infection itself and the resulting atrophy of the stomach-mucosa, by the ammonia-producing HP-bacteria, or an increase in acid re-absorbtion of gastric epithelium. Laryngopharyngeal reflux (LPR) often results in atypical manifestations with oral, pharyngeal, laryngeal, and pulmonary disorders. Laryngopharyngeal reflux is known to contribute to posterior acid laryngitis and laryngeal contact ulceration or granuloma formation, laryngeal cancer, chronic hoarseness, pharyngitis, asthma, pneumonia, nocturnal choking, and dental diseases. Today, PPI are the medication of choice in both acute and long-term (prophylactic) therapy of GERD. The so called "step-up-strategy" of medication is no longer recommended. Here, patients were first treated with antacids, then prokinetics followed by H2-blockers and finally low-dose PPI. Only in the case of persisting symptoms medication was further increased to high-dose PPI therapy. In the past this increase in medication lead to a prolonged healing process and consequently to higher medication costs. Studies have shown that a "step-down"-therapy, beginning with high dose PPI, is highly preferable, since it is much more effective. Depending on the degree of the symptoms, however, medication may also be applied "on-demand". The BfArM has approved this kind of medication application only for Esomeprazol (Nexium mups 20 mg).

The interstitial deletion of chromosome 5q is a disease of rare incidence, which might be hereditary or caused by spontaneous changes within the chromosome respectively. The pathology is based on the loss of chromosomal material within the long arm of chromosome 5. Clinical manifestations are mainly known in hematology, particular such as malignancies or hematopoetic malformation. Other morphological characteristics that have been described following deletion of chromosome 5q are deformity of the skull and the joints as well as heart defects. In the following we will present some pathologic findings focussing on the head and neck.We introduce a young female patient of 8 months with deletion of the long arm of chromosome 5q. In addition to the known skeletal and hematopoetic disorders we discovered a unilateral deafness and a contralateral middle-graded combined hearing-loss as well as laryngomalacia.Infants with chromosome 5 syndrome should undergo an otorhinolaryngological examination to investigate anatomic malformations. In particular a brainstem electric response audiometry should be considered for early diagnosis and treatment of a possible hearing-loss. This ensures adequate and early support of the patients physical and psychological development.

Gastroesophageal reflux is now a generally accepted risk factor for the development of adenocarcinoma of the esophagus. Less well known is the relationship of reflux disease (GERD) and respiratory disorders. Among the extra-esophageal manifestations of reflux disease is reflux laryngitis, which affects up to 78 patients with chronic hoarseness, Reinke's edema, laryngeal stricture, postnasal drip, asthma and non-cardiac chest pain. Despite popular opinion, changes in lifestyle (for example, cessation of smoking and drinking, avoidance of fatty foods) do not result in an improvement in symptoms. The treatment of choice for GERD is the use of proton pump inhibitors (PPI) in the form of stepdown therapy; in individual cases as symptom-orientated on-demand therapy.

The intratympanic application of ototoxic antibiotics and saccotomia have been well documented in severe cases of one-sided Menière's disease for 30 years now. Both treatment methods are still subject to controversial discussion.This study includes 8 patients suffering from persistent one-sided Menière's disease after treatment with gentamicin application and additional saccotomia (n=2). We performed follow-up visits including the assessment of hearing ability, vestibular function and cranial MRI, 2-10 years after onset of treatment.After therapeutic interventions 7 patients reported to be healed of their symptom vertigo. In 4 patients the gentamicin-treated vestibular organ did not respond to thermic stimulus at the time of follow-up examination. Auditory threshold shift was observed in 3 patients (1 permanent, 2 temporary), whereas hearing threshold improved in 2 patients. Tinnitus was attenuated in 3 patients, while 1 patient suffered from posttherapeutic onset of tinnitus. Morphological and structural changes due to Menière's disease and treatment procedures were ruled out by cranial MRI.The intratympanic application of ototoxic medication is a safe and effective treatment method in severe cases of Menière's disease. Saccotomia should be considered as therapeutic regimen for persistent symptoms after repeated application of gentamicin.

Retinoic acid and its natural and synthetic analogs (retinoids) affect a wide array of biological processes. Retinoids are used in the treatment of many skin diseases and are promising drugs for several cancers. Most of their actions are thought to result from changes in gene expression which is done through nuclear retinoic acid receptors and retinoid X receptors. We conducted a study to determine whether the expression of these receptors is different in malignant tumors and tumor cell lines versus normal tissue.We performed reverse transcription PCR from 29 tissue specimens of squamous cell carcinomas and one melanoma and of the head and neck as well as from 13 cell lines established from head and neck cancer. We were looking for the expression pattern of RARalpha, beta, gamma and RXRalpha.Only RARgamma was expressed 100 % in cell lines and tissue specimens. RARbeta showed a 100 % expression only in tissue specimens whereas a 54 % expression in cell lines was seen. All other receptors were diminished in their expression. In the positive controls all receptors were expressed 100 %.The expression of RARalpha and RARbeta was partially lost in cell lines established from squamous cell carcinoma of the head and neck. The 100 % expression of RARbeta in tissue samples versus 54 % in cell lines can be explained by clonal growth of malignant cells in cell lines and also possible "contamination" by normal cells in the tissue specimen. In concordance with the literature it seems that RARalpha and beta play a pivotal role in mediating the response to retinoids.

Gastroesophageal reflux disease (GERD) is associated with a wide spectrum of otolaryngologic disorders and extraesophageal complications of the upper aerodigestive tract. Previous studies of patients diagnosed with GERD have reported symptoms such as asthma, chronic cough, pneumonia, laryngitis, but also other oral, rhinopharyngeal and laryngeal disorders, e.g. sore throat, globus sensation, and hoarseness. The objective of this study was to determine the incidence of gastroenterologic diseases in patients complaining of upper aerodigestive, pulmonary, laryngeal, pharyngeal, oral, and cervical disorders that are possibly attributable to GERD.This study included 40 patients, who presented to the department of Otolaryngology with chronic complaints of at least one of the following symptoms or disorders during a minimum period of 3 months: dysphagia (n = 28), sensation of globus pharyngeus (n = 28), hoarseness (n = 20), odynophagia (n = 22), heartburn (n = 16), postnasal drip (n = 15), sore throat (n = 22), cough (n = 14), throat clearing (n = 11), laryngospasm (n = 6), and voice fatigue (n = 6). A complete examination of the head and neck was performed. Inflammatory disorders of the nose and the paranasal sinuses could not be confirmed by history, nasal endoscopy and Water's view x-ray or CT-scan of the paranasal sinuses in all patients.The main otorhinolaryngologic findings were laryngeal lesions (n = 38), including posterior laryngitis, erythema and edema of the interarytenoideal region, and chronic hyperplastic laryngitis. All patients were referred for gastroenterologic evaluation, where esophagogastroduodenoscopy was performed with histological examination of biopsy specimens. Different gastroenterologic diseases such as GERD, gastritis and hiatal hernia were confirmed in 30 of 40 cases, and appeared solely or in combination with each other. GERD was the most frequent gastroenterologic disease (48%), followed by hiatal hernia (45%) and Helicobacter pylori positive antrum gastritis (23%). Patients with GERD were treated with medical antireflux therapy, e.g. 20 mg to 40 mg of the proton pump inhibitor omeprazole daily. There was a remarkably good therapeutic outcome, since laryngeal disorders and findings as the result of gastroenterologic diseases resolved in 29 out of 30 patients. To date, these therapeutic results were maintained for the mean follow-up period of 8 months.It is concluded that in many patients, suffering from the above-mentioned otolaryngologic symptoms, occult gastroesophageal diseases are present. However, laryngoscopic findings are subtle and meticulous examination is mandatory. Medical antireflux treatment is effective for relief of symptoms and mucosal healing. Thus, extraesophageal otolaryngologic symptoms and laryngeal manifestations are to be considered as extragastrointestinal manifestations mainly of reflux disease.

Rhinoscleroma is a rare infectious disease of the upper respiratory tract caused by Klebsiella rhinoscleromatis. The nasal mucosa represents the primary region of occurrence which is most likely a result of respiratory transmission. Without adequate++ treatment, the disease can potentially spread to the rest of the upper and middle respiratory tract within a period of several years. Healing often occurs with extensive scarring and adhesions of the nose, palate and larynx. A life threatening late stage manifestation includes subglottic stenosis requiring immediate surgical intervention. Medical treatment primarily consists of a long-term course of antibiotics. Ciprofloxacin (Fluoroquinolon) has proved to be one of the most effective drugs.We report about a 33 year-old Egyptian male, who presented in our department with a 10 year history of a previously, only temporarily successfully treated rhinoscleroma. His main symptoms were nasal obstruction, epistaxis and inspiratory stridor.We began treatment with Ciprofloxacin over a four week period, which lead to an improvement of his symptoms. The treatment was considered complete after several biopsies and smears were negative for live specimens. We then chose to reduce the scar tissue that was causing obstruction in the larynx and the nose.The rhinoscleroma is a rare disease in geographic areas with poor hygiene and can mimic several other infectious and malignant diseases. Treatment should include a long-term antimicrobial therapy and surgical intervention in cases with symptomatic obstruction.

Solitary intraparotid facial neurofibromas are extremely rare. These tumours arise from Schwann cells, in most cases as a manifestation of neurofibromatosis. In an intraparotid localisation, they can mimic other parotideal tumours. Due to their slow growth, they may be clinically inapparent for a long time.We present the case of a patient with a right intraparotid neurofibroma originating from the facial nerve. He noted a slight facial weakness for the last three years and dullness over the preauricular area. On operation, all facial nerve branches were incorporated in the tumour mass. A total resection via monitoring technique of facial nerve function was performed. Postoperatively, the patient suffered from an incomplete facial palsy.This case highlights particularly the importance of a concise diagnostic work-up of every facial palsy. Precise histological diagnosis is particularly essential because of the different biological behaviour of neurofibromas in contrast to neurinomas. With preoperative facial palsy the chance of facial nerve preservation decreases. Clinical and operative experience with parotid gland neurofibromas shows that recovery of facial nerve defects is mostly incomplete.

The occurrence of metastasis of renal cell carcinomas in the head and neck region is extremely rare. Metastasis in the larynx, hypopharynx, and the nasal sinuses has been reported. We report here about a 55-year-old female with metastasis in the soft palate and tonsil, which occurred 10 years following tumor nephrectomy.The incidence of metastasis in renal cell carcinomas can be observed even many years following initial curative treatment of the primary tumor. Although rare in the region of the head and neck, they can often be mistaken for benign tumors such as hemangiomas or inflammatory tissue. The treatment of choice is radical surgical resection.

In 1967, Kleinsasser first reported about basal cell adenomas in salivary glands, which represent approximately 1-2% of all salivary gland tumors. About 70% of these tumors are found in the parotid gland. Less often the minor salivary glands are involved, particularly in the upper lip region. We would like to report on a case of occurrence in the upper pole of the palatine tonsil.A 68-year-old woman was seen, who complained about a growth in her left tonsil. Other than a slow increase size, she had no symptoms. Examination revealed a solid tumor approximately 3 cm in diameter which displaced the upper part of the tonsil medially. In an MRI study, the neoplasia demonstrated a low signal intensity in the T1-weighted images and a high signal intensity in the T2-weighted images, which is relatively typical for a cystic structure. The tumor extended to the base of skull, and was completely resected by extended tonsillectomy. Histologic studies showed a cystic, regressive basal cell adenoma.When compared to pleomorphic adenomas, basal cell adenomas are relatively rare in the region of the soft palate. This case is especially interesting because we assume the origin of the tumor to be in the supratonsillar salivary glands (Weber's glands) and also because of the unusually pronounced cystic regressive changes.

In order to find a prognostic marker for the course of disease in head and neck cancer, we hypothesized that patients with rapid disease progress would produce increased levels of transforming growth factor alpha (TGF-alpha) and its cell surface receptor, the epidermal growth factor receptor (EGFR).Using molecular biological techniques, we examined the incidence of TGF-alpha and EGFR expression in 43 patients with tumors of the head and neck. The expression data were correlated with the course of disease in four-year follow-up. The tumors were classified into four groups according to the EGFR status: Group 1, no expression for EGFR (15 samples); group 2, expression level 10 for EGFR (18 samples); group 3, expression level 50 for EGFR (7 samples); and group 4, expression level 100 for EGFR (3 samples).An expression for the TGF-alpha protein was only detected in group 4. There was a significant correlation with EGFR overexpression in group 4 and survival compared with group 3 (p0.01) and group 1 (p0.05). The mean survival for group 1 to 4 was 27, 33, 34, and 10 months, respectively.The analysis of all patients revealed that the patients with synchronous expression of EGFR and TGF-alpha had the poorest prognosis. Increased production of TGF-alpha and EGFR in tumors of the head and neck may serve both as a marker for tumor progression and as a target for preventive therapies.

Leukoplakia, a white patch in the oral cavity or in the larynx that cannot be scraped off is a premalignant precursor of squamous cell carcinoma. It is tobacco-related and easily monitored. The rate of transformation of leukoplakia into invasive cancer is directly related to the degree of histologic abnormality. In the largest and longest study in the United States (mean follow-up, 7.2 years), the long-term transformation rate for dysplastic lesions was 36%. Surgical removal is considered the best therapy. However many patients operated on for oral leukoplakia later develop local relapses, new leukoplakias, or squamous cell carcinoma. Although leukoplakia lesions can show spontaneous regression, the response rate observed under treatment of retinoids is much greater.In our study, high-dose retinyl palmitate was used for the first time on leukoplakias of the larynx. The study was conducted in two phases. In the first phase, all patients underwent induction therapy with a high dose of Retinyl Palmitate (A-Mulsin Hochkonzentrat, Mucos Pharma, Geretsried, Germany) 300.000 IU daily for the first week up to 1,500,000 IU daily in the fifth week. Patients whose lesions progressed during this period were withdrawn from the study. In the second phase, patients whose lesions responded to treatment or remained stable were then assigned to a maintenance therapy. The median duration of treatment was 104 days (range 15-272).We observed a complete remission rate of 65% (20 out of 31 patients), a partial remission in 8 patients (26%) and a relaps in three patients (9%) during the next 15 months follow-up. Relapses were mainly seen in patients with a history of a carcinoma in situ or squamous cell carcinoma.One of the main reasons for using retinyl palmitate in patients with larynx leukoplakia was to avoid general anesthesia in elderly patients who were considered as high risk patients for undergoing surgery. These results indicate that retinyl palmitate has substantial activity in larynx premalignancy. Because of its minor toxicity, it is an excellent candidate for a preventive agent for larynx cancer.

A major biochemical pathway that has been implicated in the control of normal and malignant growth involves phosphoinositide metabolism. In this pathway, receptor-mediated activation of a phosphoinositide-specific phospholipase C causes the hydrolysis of phosphatidylinositol-4,5-bisphosphate which generates two putative second messengers, inositol-1,4,5-trisphosphate and diacylglycerol (DAG). Since DAG has been shown to be elevated in many transformed cells, we sought to determine if the levels of PKC isoenzymes are also increased. Northern blot analysis of mRNAs from 46 human tumour cell lines was performed using probes for the human PKC-I (gamma), PKC-II (beta) and PKC-III (alpha) genes. PKC-II mRNAs were significantly increased in 4 out of 12 sarcoma lines and 1 malignant melanoma cell line. PKC-III was increased in 2 out of 12 sarcoma cell lines and 1 kidney carcinoma cell line. In contrast, in the majority of carcinoma-derived cell lines tested, there was a decreased or moderate expression of either PKC-II or PKC-III mRNAs or both. It is interesting that tumour cell lines which overexpressed one isoenzyme (e.g. PKC-II), did not contain detectable levels of another isoenzyme (e.g. PKC-III), as determined by Northern blotting. Altogether, these results suggest that the overexpression of distinct PKC isoenzymes may be involved in abnormal growth regulation in some human tumours, especially in sarcomas.