Case report: An uncommon presentation of extramedullary plasmacytoma without a concurrent diagnosis of multiple myeloma.

Introduction: Extramedullary plasmacytoma (EMP) is an uncommon solitary tumor originating from neoplastic plasma cells located outside the bone marrow. Despite its rarity, the occurrence of EMP without a concurrent diagnosis of multiple myeloma (MM) is considered extremely rare. Approximately 80-90% of EMP cases are found in the head and neck region, with a higher incidence in men aged between 50 and 60 years. The current treatment modalities include radiotherapy (RT) as a first-line approach, with surgery or chemotherapy regarded as other therapeutic options. While RT proves effective in the majority of EMP cases, there are instances where the tumor remains refractory to radiation. In this case report, we present an unusual scenario of EMP resistant to RT without concurrent signs of multiple myeloma which was successfully treated with surgery followed by systemic therapy. Case report: A 72-year-old male was admitted to the Head and Neck Cancer Clinic with a 6-month history of swallowing difficulties. He denied experiencing weight loss or pain on swallowing. Basic laboratory tests yielded results within normal limits, except for beta-2 microglobulin. Physical examination revealed an enlarged submandibular lymph node on the right side. Fiberoptic examination identified a soft tissue polypoid mass within the right piriform fossa, slightly protruding into the vocal slit. A CT scan displayed a well-circumscribed 2 cm polypoid, homogeneously enhancing soft tissue mass adjacent to the posterior surface of the epiglottis and the right side of the tongue base. Bone marrow biopsy revealed no abnormalities, and there were no clinical or laboratory signs of multiple myeloma. Based on the tumor biopsy results and imaging studies, a diagnosis of EMP was made. Due to the lack of response to RT, surgical removal of the tumor was pursued, followed by systemic therapy. Ultimately, the patient achieved full recovery with effective disease control. Conclusion: In conclusion, EMP without concurrent multiple myeloma is an exceedingly rare condition that demands a multidisciplinary approach for both diagnosis and treatment. Moreover, although RT continues to be the primary standard treatment for EMP, in some cases other therapeutic regimens prove to be successful.

Two sisters diagnosed with familial paraganglioma syndrome type 1 (FPGL1) and multiple endocrine neoplasia type 2A (MEN2A).

BACKGROUND: In clinical practice, genetic testing has become standard for many cancerous diseases. While a diagnosis of a single hereditary syndrome is not uncommon, the coexistence of two genetic diseases, even with partially common symptoms, remains unusual. Therefore, targeted next-generation sequencing (NGS), along with genetic consultation and imaging studies, is essential for every patient with confirmed paraganglioma. In this report, we present two sisters diagnosed with multiple endocrine neoplasia type 2 (MEN2A) and familial paraganglioma syndrome type 1 (FPGL1). CASE PRESENTATION: After presenting to the clinic with neck tumors persisting for several months, both patients underwent tumor removal procedures following imaging and laboratory studies. Pathological reports confirmed the diagnosis of paragangliomas. Subsequently, genetic testing, including NGS, revealed a mutation in the rearranged during transfection (RET) gene: the heterozygous change (c.2410G > A), (p.Val804Met), and a variant of the succinate dehydrogenase complex subunit D (SDHD) gene: (c.64 C > T), (p.Arg22Ter). Subsequently, thyroidectomy procedures were scheduled in both cases. CONCLUSION: To the best of our knowledge, this is the first report presenting these two mutations in two related patients, resulting in distinctive genetic syndromes with similar manifestations. This underscores that although infrequent, multiple hereditary disorders may co-occur in the same individual.

A new therapeutic approach in Gorham-Stout disease: a case report.

Background: Gorham-Stout disease is a rare condition of unknown prevalence and unknown exact cause. Its pathogenesis is based on enhanced osteoclastic activity leading to bone resorption and bone replacement by distended lymphatic vessels. Because of its rarity and a various range of symptoms the disease may give, diagnosis is challenging and a strong index of suspicion is required. Although it is a benign condition, the prognosis may be unpredictable. The treatment options suggested so far are limited, and every case should be provided with the best individual approach. Herein, we present a case report of Gorham-Stout disease managed with a regular lump drainage with a good response and control of the patient symptoms over a period of 20 years. Case report: A 23-year-old male was admitted to the Head and Neck Cancer Clinic with a 6-month history of a left-sided neck lump. Other symptoms reported were neck pain and general weakness. The basic laboratory tests were within normal limits. On physical examination, a large round lump on the left side of a patient's neck and left armpit were noticed. They were about several centimeters in diameter, soft on palpation, but firmly attached to the underlying tissue. CT scan revealed large lymphatic left-sided masses of the neck and axillary fossa and multiple osteolytic lesions in the patient's vertebrae. Together with the biopsy findings and imaging studies, a diagnosis of Gorham-Stout Syndrome was made. The patient was then scheduled for a regular cystic drainage with good control of a disease for over a period of 20 years. Conclusion: Gorham-Stout disease is a rare challenging condition, and the available treatment options remain sparse. Although surgical approach is effective, it is not always possible. In addition, the risk of radiotherapy-induced malignancy shows that this therapy may eventually result in unfavorable response. Depending on symptoms and the disease location, this condition requires an individual treatment plan. The presented case illustrates that a minimally invasive approach may result in a good control of the Gorham-Stout syndrome and may stand as an alternative treatment option for some patients with this condition.

Signet-Ring Cell/Histiocytoid Carcinoma: Report of Two Cases and Systematic Review of the Literature on the Epidemiology, Clinical Characteristics, and Pathological and Molecular Findings.

ABSTRACT: Signet-ring cell/histiocytoid carcinoma (SRCHC) is a rare appendageal tumor, mainly considering eyelids, more rarely axillae. This article describes 2 novel SRCHC cases of 71- and 66-year-old men and systematically reviews the literature on SRCHC. Of all cases reported in the literature, 73 (91.2%) were men and 7 (8.8%) were women. The median age at diagnosis was 71 years. Skin changes were located in the eyelids (68%) and axillae (32%). In all tested cases, SRCHC cells expressed CK7, CKAE1/AE3, EMA, CAM5.2, and AR and PIK3CA mutations. Future research should determine whether AR/PIK3CA-targeted therapies influence patients' survival.

The Accuracy of Clinical Diagnosis in 2135 Lesions on the Face. A Retrospective Analysis of Histopathological Records.

Introduction: Biopsy of facial skin lesions is an important supplement to dermatological diagnostics, especially in doubtful cases or suspected of being malignant. Objectives: The aim of the retrospective study of 2135 histopathological records of lesions on the face was to: establish the most common indications for a skin biopsy in patients with facial lesions, establish the frequency of histopathological diagnoses, evaluate how often clinically suspected inflammatory lesions are identified as tumors in histopathology, evaluate the accuracy of clinical diagnoses of the most common skin tumors and dermatoses. Methods: It was a retrospective study. Histopathological records from the lesions on the face from years 2010-2017 were analyzed. Results: The mean age of patients was 69.3 [7-98]. Fifty-eight percent of the patients were women. Among 2135 clinical diagnoses skin tumors were suspected in 1905 cases. Among 2169 obtained histopathological results (34 biopsies showed 2 diseases), we identified skin tumors in 1940 cases, with 1388 confirmed as malignant. The clinical diagnosis of a specific benign or malignant skin tumor was accurate in 1013/1634 subjects, in comparison to inflammatory lesions, which were correct in 67/148 cases, (P = 0.0001). Among all preliminary inflammatory diagnoses, 33/204 lesions were identified as skin tumors in histopathology. Conclusions: In conclusion in most cases of skin tumors the clinical diagnosis is confirmed by histopathological examination. In case of facial inflammatory lesions, the accuracy of clinical diagnosis is lower, with a significant number of facial lesions appearing inflammatory in clinical evaluation but being diagnosed as skin cancers in pathology.

Factors Associated With Injury to Recurrent Laryngeal Nerve in Patients Undergoing Surgery for Thyroid Cancer: A Single-centre Study Using Translaryngeal Ultrasound.

AIMS: Intraoperative injury to the recurrent laryngeal nerve (RLN) is a serious complication occurring more frequently in patients with thyroid cancer than in those with benign thyroid diseases. However, data on the risk factors for RLN injury among patients with thyroid cancer are scarce. Currently, RLN injury is diagnosed by laryngoscopy, but translaryngealultrasonography (TLUS), which is less invasive, appears to have a similar accuracy. Herein, we analysed risk factors ofintraoperative RLN injury in patients with thyroid cancer and assessed the diagnostic performance of TLUS. PATIENTS AND METHODS: In this prospective study, we enrolled patients undergoing surgery for thyroid cancer from October 2020 to October 2021. Medical and surgical variables were analysed as risk factors of RLN injury. TLUS was compared with laryngoscopy in diagnosing RLN injury. RESULTS: There were 185 patients who underwent 196 surgeries. Of all surgeries, 23 (11.7%) caused RLN injury ascertained on laryngoscopy. Compared with laryngoscopy, TLUS displayed high sensitivity (97.7%; 95%CI: 94.3%-99.4%) and specificity (100%; 95% CI: 82.4%-100%). Before surgery, medical and surgical characteristics did not differ significantly between patients with or without RLN injury, but RLN entrapment by tumour was more frequent in those with the injury (P < 0.001). The risk of RLN injury was increased in patients undergoing thyroidectomy with lateral neck dissection (OR = 4.53; 95% CI: 1.29-14.32) and in those with lymph node metastases (OR = 2.76; 95% CI: 1.03-7.01). CONCLUSION: Intraoperative RLN injury in patients with thyroid cancer is more common after operations requiringgreater resections and with lymph node involvement. TLUS could be used to diagnose RLN injury.

Transcutaneous laryngeal ultrasonography in vocal fold assessment before and after thyroid surgery in light of recent studies.

Transcutaneous laryngeal ultrasonography (TLUS) has become a cheap, convenient, and novel method in vocal fold (VF) assessment. The gold standard method of VF examination is laryngoscopy. It requires ear, nose, and throat specialist consultation and additional equipment. Moreover, laryngoscopy causes distress to patients, and during the COVID-19 pandemic it is a high-risk, aerosol-producing procedure. The aim of the paper was to review publications on the role of TLUS in VF evaluation. Considered aspects included VF visibility, factors affecting them, and different variables measured during TLUS examination. The visibility of VFs in TLUS ranged from 72.8 to 100%. Among men it was significantly lower (17-100%) in comparison to women (83-100%). All but 2 authors concluded that TLUS is a viable tool that can be an alternative to laryngoscopy in diagnosing VFs. Obesity, age, male gender, height, calcified thyroid, and incision close to the thyroid cartilage were independent factors for inaccessible vocal folds. VF displacement velocity (VFDV) is the most objective parameter measured by Doppler, and it is proportional to the velocity of the wave causing the vibrations of the VFs. After VF paralysis, this parameter is reduced. Valsalva manoeuvre, low-frequency transducer, and different transducer positions can improve images obtained on USG. TLUS in a majority of cases can adequately assess whether the function of the VFs is intact or paresis/paralysis has occurred. It is noninvasive and rapid, it adds no extra cost, and it can be a part of the preoperative examination of the thyroid gland. TLUS can usually be a convenient alternative to laryngoscopy.

Application of Translaryngeal Ultrasound (TLUS) in Patients with Neck Surgery-A Single-Centre, Prospective Cohort Study on Technique Evaluation.

PURPOSE: The primary objective of this study was to assess the value of translaryngeal ultrasound (TLUS) in assessing vocal fold (VF) function in patients after thyroid, parathyroid and neck lymph node surgery. METHODS: A total of 219 patients that underwent 230 surgical procedures were enrolled in this prospective study. The study was conducted from October 2020 to October 2021. Patients' VFs were analysed independently with TLUS and laryngoscopy before and after the surgery. Various TLUS variables, such as vocal folds displacement velocity (VFDV), arytenoids symmetry and angle between VFs, were measured. The questionnaire evaluating discomfort caused to patients by both methods was conducted. RESULTS: Of the 230 surgeries in this study, 85% were from oncological indications. The incidence of RLN injury was 10.4%. The accuracy of TLUS compared to laryngoscopy was 98.3%, with sensitivity 98.1%, specificity 100%, PPV 100% and NPV 83.3%. Laryngoscopy was found to cause significantly more discomfort than TLUS. VF visibility was lower in men; smokers; and patients with higher BMI (32 vs. 28 kg/m2), multifocal cancer, higher left lobe volume and higher fT3 levels. Arytenoid symmetry VFDV was lower for "e" and "i" right side and "i" left side in injured/disabled VFs/RLN. CONCLUSIONS: TLUS can be an excellent and non-invasive method of VF evaluation in most patients. There are some technical aspects that can improve its accuracy. Sometimes, RLN injury after the surgery, especially among oncological patients, is unavoidable. Therefore, it is vital to diagnose dysphonia early with convenient methods, such as TLUS.

Lentigo Maligna on a Difficult Location of the Face Treated with 5% Imiquimod: A Case Report of 2-Year Follow-Up.

Topical imiquimod is an off-label alternative treatment for lentigo maligna used when surgery cannot be performed. Severe inflammatory response induced by this drug may generate many complaints and force patients to discontinue use. We present a case in which interval treatment with 5% topical imiquimod was implemented for severe inflammatory response. An 82-year-old Caucasian woman presented with a large, irregularly pigmented lesion on her left cheek within the scar of a previously excised melanocytic lesion diagnosed as junctional nevus. Based on dermatoscopical examination confirmed by histopathological description, lentigo maligna was diagnosed. Since the lesion was large and covered the lower left eyelid and due to the risk of disfigurement, the patient refused surgical excision. Therefore, treatment with imiquimod 5% once daily, five times per week, was offered. After 5 weeks, the treatment was stopped because of intense inflammatory reaction and ulceration. On the follow-up visit after 3 months, videodermatoscopical examination revealed changes in the pigmentation of the lentigo maligna including the presence of residual gray dots and fading of the previous dark brown and black colors. The inflammatory response had almost resolved. The second course of treatment with imiquimod five times a week was implemented again for 5 weeks, and after a 2-month interval the third course with the same regimen was started. Total clearance of the lesion was achieved, which was confirmed by videodermatoscopical examination. During the 2-year follow-up, no relapse was observed based on dermatoscopical examination. We propose interval treatment with topical imiquimod 5% lentigo maligna for severe inflammatory reactions in patients with contraindications to surgery. This could help patients overcome this typical response effect and decrease their cessation of treatment.

General Characteristics and Comorbidities in Patients with Palmoplantar Pustulosis.

The aim of this prospective study was to analyze comorbidities in patients with palmoplantar pustulosis (PPP). The current study comprised 63 consecutive patients with palmoplantar pustulosis. The control group consisted of 37 patients with psoriasis vulgaris (PSV). The study included a standardized anamnesis, a clinical examination, blood tests for thyroid hormones, as well as calcium, magnesium, antiendomysial antibody, and patch tests. Hypertension was observed in 28/63 (44.44%) patients with PPP. Eight (12.7%) had ischaemic heart disease, and 7/63 (11.11%) had type 2 diabetes mellitus. There was no statistically significant difference between the patients with PPP and those in the control group. Metabolic syndrome was diagnosed in 19/63 (30.16%) patients with PPP and in 12/37 (32.43%) patients with PSV. Thyroid disease was more prevalent among patients with PPP in comparison to patients with PSV (31.75% vs. 13.51%; p=0.0421). Body mass index was statistically significantly higher in patients with PSV (28.25 vs. 25.86 kg/m², p=0.0144). BMI was higher than 25 kg/m2 in 18.03% patients with PPP and 26.47% patients with PSV (p=0.333). Positive patch tests were observed in 12/39 (30.77%) patients with PPP. The most common allergens were nickel chloride (5/12, 41.67%) and fragrances (5/12, 41.67%). In the control group, patch tests were positive in 2/11 (18.18%) cases (p<0.05). Patients with PPP, like patients with PSV, often presented with hypertension and metabolic syndrome. Given that many studies have focused on cardiovascular risk in PSV, there is a need for further research on the association between PPP and cardiovascular risk. In addition, patients resistant to PPP treatment should be screened for contact allergies.

Association of breathing patterns and quality of life in patients with nasal obstruction.

INTRODUCTION: In the general population, nasal obstruction is a common complaint. However, an objective evaluation of nasal obstruction is difficult. Nose examination, computed tomography (CT), acoustic rhinometry, and anterior rhinomanometry do not accurately reflect the discomfort reported by patients with nasal obstruction. In patients with nasal obstruction, this study evaluated nasal breathing with a unique device for continuous nasal-oral spirometry - a nasal-oral flow analyzer (NOFA); moreover, quality of life was compared between patients with normal nasal breathing on NOFA and of those with impaired nasal breathing on NOFA. METHODS: Of 181 adult patients admitted to an ENT department due to nasal obstruction that were enrolled in the study, 97 (53.6%) completed all per-protocol assessments, including the SF-36 questionnaire and 3-hour, continuous nasal-oral spirometry with NOFA. Based on the presence of normal nasal breathing defined as ≥95% of nasal flow, the 97 patients were divided into those with normal nasal breathing (n=31) and impaired nasal breathing (n=66). RESULTS: Patients with normal nasal breathing differed from those with impaired nasal breathing with respect to all SF-36 subscales (physical functioning, p=0.004; role-physical, p=0.009; bodily pain, p<0.001; general health, p=0.007; vitality, p=0.002; social functioning, p=0.008; mental health, p=0.009; physical component summary, p<0.001; mental component summary, p=0.02), except for the role-emotional subscale (p=0.1). CONCLUSIONS: Among patients with symptoms of nasal obstruction, compared to patients with normal nasal breathing, those with impaired nasal breathing had significantly lower quality of life in the physical and mental domains. Further research needs to determine whether NOFA can be used to diagnose nasal obstruction.

Long-term parental satisfaction with adenotonsillectomy: a population study.

OBJECTIVE: This study reports the presence of sleep-disordered breathing (SDB) symptoms among first graders. We evaluated the severity of symptoms and parental satisfaction in children who had undergone adenotonsillectomy (T&A) compared to children who never had T&A. METHODS: A population-based, cross-sectional study was conducted. Parent-reported questionnaire data including age, weight, height, BMI, history of T&A, and SDB symptoms (snoring intensity, observed dyspneas, mouth breathing during sleep) were analyzed. RESULTS: Of 3580 eligible children, 2504 (69.9 %) returned questionnaires. Two hundred fifty-nine (10.3 %) children had a history of T&A. Within this group, 76 % of parents were still satisfied with their child's outcome after surgery. The satisfaction rate decreased from 88.9 % in those who had surgery within 1 year to 71.3 % in those who had surgery ≥3 years prior. The mean values of intensity for all analyzed SDB symptoms on a five-point scale were significantly higher for children who had ever undergone T&A when compared to those who never underwent surgery [e.g., snoring (2.11 vs 1.87; P = 0.0004), dyspneas (1.64 vs 1.22; P < 0.0001), and mouth breathing during sleep (2.95 vs 2.58; P < 0.0001)]. For those who had undergone T&A, 24 % of caregivers were not satisfied with the surgical outcome and the symptom intensity was highest (snoring = 3.16, dyspneas = 2.20, and mouth breathing = 4.23) for these children. CONCLUSIONS: The mean SDB symptom intensity was significantly higher in children who had undergone T&A when compared to those who had not. The elevated symptom intensity in those children whose caregivers were not satisfied after T&A suggests possible SDB recurrence and need for further evaluation.

Snoring but not BMI influences aggressive behavior and concentration problems in children.

INTRODUCTION: Sleep-disordered breathing is an important risk factor for neurobehavioral impairment in children. This study was conducted to estimate the prevalence of sleep-disordered breathing in a population of first graders and to determine the association between behavior problems, body mass index (BMI) and snoring. MATERIAL AND METHODS: A population-based, cross-sectional study was conducted using a parent-reported questionnaire. The study evaluated 2,474 first-graders. Data including age, weight, height, BMI, snoring intensity, and problems with child behavior were analyzed. RESULTS: Of 3,480 eligible children, 2,474 (71.1%) returned completed questionnaires. Of these, 72% were reported to be non-snorers, 28% snorers, and 6.4% habitual snorers. There was a positive linear association between behavior impairment and snoring severity measured on a 5-point scale, with highly significant differences between each of five snoring intensity groups (p<0.00001). Compared to non-snorers, snorers in the normal-weight and overweight subgroups had significantly more aggressive behavior (p<0.0001; p=0.002, respectively) and more concentration problems (p<0.0001; p=0.03, respectively). There was no significant difference in aggressive behavior and concentration problems intensity in the screened groups of obese and normal subjects (p=0.70; p=0.79, respectively). DISCUSSION: Behavior problems were positively associated with increasing snoring frequency. However, there were no differences in the prevalence of behavioral or concentration problems between obese and non-obese first-graders studied.

A new approach to studying the nasal and oral breathing routes.

INTRODUCTION: Nasal obstruction is often reported by patients. It is a consequence of a subjective feeling of impaired airflow through the nasal cavity. Currently, objective measures of nasal patency rates are very limited. Functional tests only analyze nasal breathing; they do not simultaneously assess airflow through the mouth. OBJECTIVE: The aim of this study is to present a new functional test that assesses a single-stage nasal and oral breathing route. METHODS: The NOFA (Nasal-Oral Flow Analyzer) is a three-channel flow meter used to perform continuous and simultaneous measurements of nasal and oral respiratory parameters. We present the application of the device and the proposed study protocol. RESULTS: The respiratory tracks of four selected patients are presented. Different breathing patterns are visible: exclusive nasal, exclusive oral, and mixed nasal-oral ventilation pattern. CONCLUSIONS: The preliminary results suggest the potential use of the NOFA in ENT practice. Further studies are necessary to evaluate the usefulness of this device in the diagnosis of patients with upper respiratory tract disorders.

Serum EPO and VEGF levels in patients with sleep-disordered breathing and acute myocardial infarction.

BACKGROUND: A high level of endogenous erythropoietin (EPO) may be associated with a smaller infarct size determined by the release of necrosis markers. Sleep-disordered breathing (SDB) is a well-known risk factor for cardiovascular diseases. In contrast, protective effects of SDB have also been described. The potential role of increased levels of EPO and vascular endothelial growth factor (VEGF) is suggested in this process. The study aimed to explore the EPO and VEGF serum levels in SDB and non-SDB patients during the acute phase of myocardial infarction. METHODS: Thirty-seven patients undergoing successful primary percutaneous coronary intervention in the acute myocardial infarction have been examined for the levels of EPO, VEGF, and troponin I (Tn). In the following, patients had an overnight polysomnography to determine breathing disturbances during sleep. RESULTS: Both on admission day (day 1) and day 3 of hospitalization, EPO levels showed statistically significant differences in both SDB-positive and SDB-negative patient groups (p = 0.003 and p = 0.018, respectively). There was no statistically significant difference in VEGF levels. No correlation was found between the EPO and Tn levels. CONCLUSIONS: SDB patients tend to have higher levels of EPO during acute myocardial infarction. No statistically significant differences in VEGF levels were observed.

Chronic rhinosinusitis in children--bacteriological analysis in terms of cytological examination.

INTRODUCTION: The mechanisms of inflammatory response occurring in chronic rhinosinusitis in children are multifactorial. Besides the history and a physical examination, amongst diagnostic tools there are cytological and bacteriological examinations. OBJECTIVES: 1 Determining the nature of the bacterial flora present in the nasal cavities and paranasal sinuses in children with chronic rhinosinusitis amongst patients of The Department of Paediatric Otolaryngology,Warsaw Medical University. 2 Determining the relation between bacterial strains and cytological examination of nasal mucosa in children with chronic rhinosinusitis. MATERIALS AND METHODS: The study group included 64 patients with chronic rhinosinusitis without polyps. The control group included 30 randomly chosen children. Diagnostic tests performed in both groups were: middle meatal culture and cytological examination from the inferior nasal concha and middle meatus. Statistical analysis was accomplished with Statistica 8.0. CONCLUSIONS: Damage to the respiratory epithelial surface is understood as damage to the innate immune barrier, and repeated antibiotic therapy with the subsequent repopulation of the epithelium accidentally by various bacteria can become responsible for the pathogenic effect of bacteria in chronic rhinosinusitis.