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Pakistan Journal of Medical Sciences Jan 2024Shabbir Syndrome or commonly known as Laryngo-onycho-cutaneous syndrome (LOCS) is an autosomal recessively inherited syndrome, caused due to mutations in the laminin...
Shabbir Syndrome or commonly known as Laryngo-onycho-cutaneous syndrome (LOCS) is an autosomal recessively inherited syndrome, caused due to mutations in the laminin alpha-3 (LAMA3) gene. This syndrome affects the epidermal layer and results in granulation formation in the eyes, larynx, and nails. One of the most dreadful complications of this syndrome can be due to granulation formation in the larynx or sub-glottis region resulting in laryngeal stenosis and death. According to the latest (OMIM) classification, LOCS has been reclassified as a subtype of Junctional epidermolysis bullosa (JEB). But it is still considered a rare syndrome with limited cases reported worldwide. In this case report, we have discussed a case of a four year old, Pakistani boy, who presented with stridor, fragile skin, and granulation of nails, with no family history of LOCS.
PubMed: 38328664
DOI: 10.12669/pjms.40.2(ICON).9035 -
Otolaryngologia Polska = the Polish... Sep 2023<br><b>Introduction:</b> Malignant minor salivary gland tumors are rare, accounting for fewer than 1% of all laryngeal cancers.</br>...
<br><b>Introduction:</b> Malignant minor salivary gland tumors are rare, accounting for fewer than 1% of all laryngeal cancers.</br> <br><b>Aim:</b> This study aims to share our experiences regarding clinical, radiological, pathological profiles and their management.</br> <br><b>Materials and methods:</b> The current study reviews 11 cases of malignant minor salivary gland tumors of the larynx treated surgically at our Institute between 2005 and 2019.</br> <br><b>Results:</b> The mean age of the patients was 54 years (range 38-75 years) with six females and five males in the series (1.2:1). Subglottis and trachea were the sites of origin in 54% of the cases, and hoarseness with dyspnea were the most common presenting symptoms. There were nine Adenoid cystic and two Mucoepidermoid carcinoma patients. Surgery was the primary mode of treatment.</br> <br><b>Conclusions:</b> Most of the larynx's malignant minor salivary gland tumors are submucosal in origin. The outcome and prognosis vary considerably based on the tumor's histology, grade, and stage.</br>.
Topics: Female; Male; Humans; Adult; Middle Aged; Aged; Adenoids; Hoarseness; Laryngeal Neoplasms; Larynx; Salivary Gland Neoplasms
PubMed: 38032326
DOI: 10.5604/01.3001.0053.4040 -
Cancer Imaging : the Official... Oct 2023Accuracy of head and neck MRI (HN-MRI) in predicting tumor invasion of laryngeal site/subsites in patients with laryngeal cancer prior to laryngectomy is poorly...
BACKGROUND
Accuracy of head and neck MRI (HN-MRI) in predicting tumor invasion of laryngeal site/subsites in patients with laryngeal cancer prior to laryngectomy is poorly evaluated in the literature. Therefore, we aim to evaluate the diagnostic value of HN-MRI in accurate pre-operative estimation of tumor invasion to laryngeal subsites in patients with laryngeal cancer.
METHODS
Patients with laryngeal cancer who underwent HN-MRI for cancer staging and underwent total laryngectomy between 2008 and 2021 were included. Sensitivity, specificity, positive predictive value, negative predictive value, and overall accuracy of HN-MRI in predicting tumor invasion of laryngeal subsites were calculated based on concordance between the HN-MRI and histopathological results.
RESULTS
One hundred and thirty-seven patients underwent total laryngectomy [primary: 82/137(60%), salvage 55/137(40%)]. The utilization of HN-MRI resulted in the downstaging of 16/137 (11.6%) patients and the upstaging of 8/137 (5.8%) patients. For the whole cohort, there was a significant discordance between HN-MRI and histopathology for T-category; out of 116 cT4a disease, 102(87.9%) were confirmed to have pT4a disease, and out of 17 cT3 disease, 9(52.9%) were confirmed to have pT3 disease, pā<ā0.001. The MRI overall diagnostic accuracy of predicting tumor invasion was 91%, 92%, 82%, 87%, 72%, 76%, 65% and 68% for base of tongue, arytenoid, vocal cord, posterior commissure, pre-epiglottic space, cricoid cartilage, inner thyroid cortex, and subglottis, respectively.
CONCLUSIONS
In patients with laryngeal cancer undergoing total laryngectomy, HN-MRI demonstrates promising accuracy in predicting tumor invasion of specific laryngeal subsites (e.g., base of tongue). Our findings showed the potential of HN-MRI as a valuable tool for pre-operative planning and treatment decision-making in this patient population.
Topics: Humans; Laryngeal Neoplasms; Neoplasm Invasiveness; Magnetic Resonance Imaging; Neoplasm Staging; Laryngectomy; Retrospective Studies
PubMed: 37858162
DOI: 10.1186/s40644-023-00618-y -
Ear, Nose, & Throat Journal Jul 2023Rosai-Dorfman disease (RDD) is a rare benign systemic histiocytic proliferation characterized by massive lymph node enlargement and sometimes associated with extranodal...
Rosai-Dorfman disease (RDD) is a rare benign systemic histiocytic proliferation characterized by massive lymph node enlargement and sometimes associated with extranodal involvement. Even though it is considered to be benign, death can occur depending on the extent and location. Our case highlights a primary extranodal site of the right pinna with extension through the Eustachian tube to the subglottis. A previously healthy 15-year-old female presented with 1-year right pinna swelling, slowly enlarging and becoming more bothersome. An incisional biopsy was performed on the ear along with S100 staining yielding a diagnosis. After multidisciplinary case discussion, clofarabine monotherapy and systemic therapy for Langerhans cell histiocytosis has started. Rosai-Dorfman disease can be a general disorder, often affecting the lymph nodes. Unlike a nodal disease, extranodal disease could involve any site on the patient's anatomy. Head and neck lesions are the most common extranodal lesions. Rosai-Dorfman disease is self-limited in more than 20% of the cases with spontaneous regression without intervention; 70% of the patients have noticeable symptoms and vital organ involvement requiring treatments such as surgery, steroids, radiation, and chemotherapy. In our case, the patient had wide involvement and presented without any serious breathing difficulties; we decided to start with monotherapy with chemotherapy and systematic glucocorticoid treatment.
Topics: Female; Humans; Adolescent; Histiocytosis, Sinus; Lymphadenopathy; Neck; Lymph Nodes; Ear, External
PubMed: 33973483
DOI: 10.1177/01455613211016704