Relapsing polychondritis initially presenting with hoarseness and difficulty breathing in a 21-year-old male

@#<p style="text-align: justify;"><strong>OBJECTIVE:</strong> To present a case of relapsing polychondritis initially presenting with hoarseness and difficulty breathing and to discuss the diagnostic criteria and typical CT scan findings of relapsing polychondritis. <br /><strong>METHODS:</strong> <br /><strong>Design:</strong> Case Report<br /><strong>Setting:</strong> Tertiary Private Hospital in Metro Manila<br /><strong>Patient:</strong> One<br /><strong>RESULT:</strong> A 21-year-old man who was initially managed as a case of bronchial asthma for persistent hoarseness and recurrent difficulty breathing was found to have severe laryngeal edema on endoscopy, and soft tissue expansion of the cricoid cartilage with calcifications and irregular first tracheal ring on CT scan. He also had recurrent eye redness and developed bilateral aural inflammation, and was subsequently diagnosed to have relapsing polychondritis.<br /><strong>CONCLUSION:</strong> Relapsing polychondritis is a rare autoimmune disease characterized by recurrent inflammation and eventual destruction of cartilage throughout the body. Typical manifestations may not always be present, causing a delay in diagnosis. It should be considered in patients with intractable respiratory symptoms not responsive to treatment for upper respiratory tract infections or asthma. A CT scan may reveal signs of cartilage destruction and help in diagnosis.                  </p>

Clinical and Histopathological Profile Of BRAF V600E Mutation In Conventional Papillary Thyroid Carcinoma in A Filipino Population

BRAF V600E is a possible biomarker for risk stratification and prognostication in papillary thyroid carcinoma. Studies on its association with aggressive clinicopathological features among East Asian populations are limited. This study examines the clinical and histopathological features of this mutation in Filipinos with conventional papillary thyroid carcinoma. Methods: Formalin-fixed, paraffin embedded thyroid tissue blocks of papillary carcinoma for the study period January 2010 to December 2012 were retrieved. Slides were reviewed and described according to tumour size, variant type, sclerosis, multifocality, subcapsular location, extra-thyroidal extension, nodal metastasis, and nodal extracapsular spread. Medical records were reviewed for patient demographics and characteristics. Mutation status was determined using realtime polymerase chain reaction and sequencing. Results: Sixty-five patients were included in this study. BRAF V600E mutation prevalence was 38.46%. The mutation positive group was predominantly female, young (mean age 36 years), with tumour size less than 4 cm, and late-stage disease. Extra-thyroidal extension (60%), significant sclerosis (96%), and subcapsular tumour location (72%) were the most frequent findings. Eighty-three percent of patients with nodal metastasis had extracapsular spread. Conclusions: Compared to some Asian populations, this study of Filipino patients shows a lower prevalence of BRAF V600E mutation. The clinical and histopathological features of mutation positive patients raise important issues regarding extent of surgical excision and appropriate management of neck metastasis for this group.