A Huge Oropharyngeal Pyogenic Granuloma in a Patient Presenting with Dysphagia.

A 39-year-old woman experienced dyspnea and progressive dysphagia for 1 year. Dysphagia appeared for solid foods at the beginning but advanced for liquids. She described 17 kg weight loss in the past 6 months and her current weight was 38 kg [body mass index (BMI) 16 kg/m2]. Dyspnea presented with effort and lying was included after 1 month. There was no disease or surgery except chronic hepatitis C in her medical history. Physical examination revealed hyponasal speech and a mass beside the tongue base. A smoothly surfaced 4 × 3-cm vascular mass in oropharynx was determined in endoscopic examination. The mass was mobile and occupied 80% of oropharyngeal area. Contrast-enhanced computed tomography revealed hypervascular 4 × 4 × 3 cm pedunculated (8 × 13 mm) mass arising from the right tongue base. The mass and the surrounding mucosa with a thin layer of tongue musculature were excised using cold instrumentation and bipolar cautery. Histologically the mass was reported as pyogenic granuloma (PG). This is the first study to report on oropharyngeal PG causing obvious weight loss in literature.

First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.

OBJECTIVE: The aim of this study is to investigate the efficiency of a first-line molecular genetic evaluation approach, in children with deafness. METHODS: Patients who were found to have sensorineural hearing loss by age-appropriate audiological tests were selected for the molecular genetic evaluation. The molecular genetic evaluation was carried out with GJB2 gene sequence analysis and mtDNA m.1555A>G mutation Restriction Fragment Length Polymorphism (RFLP) analysis. Additionally, in a small group of patients, hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) analysis was done out to identify the possible role of copy number changes. RESULTS: In this Turkish cohort, which included 104 index patients and 78 relatives, 33 (31.7%) had Pathogenic/Likely Pathogenic variants. One or more GJB2 sequence variants were identified in 46 (44.1%) of the 104 index patients. The homozygous c.35delG mutation by itself explained the etiology in 24% of our ARSNHL group. In one (5%) of the 20 patients of MLPA group, a hemizygous deletion in POU3F4 gene was detected. CONCLUSION: In our Turkish cohort, we applied a first-line molecular genetic evaluation approach using GJB2 gene sequence analysis and mtDNA m.1555A>G RFLP analysis. This approach revealed the genetic etiology of 44.1% of our index patients. Additionaly, the results of hearing loss MLPA analysis revealed the limited role of copy number changes in this patient group. Furthermore, with a detailed genotype-phenotype association workup, 2 rare cases of Deafness with Palmoplantar Hyperkeratosis and Keratitis-Ichthyosis-Deafness syndrome were reported.