Plexiform neurofibroma of the submandibular gland in patient with von Recklinghausen's disease

Plexiform neurofibroma of the submandibular gland is an extremely rare tumor. Herein, we report a case of plexiform neurofibroma in a patient with a von Recklinghausen's disease (NF-1) who presented with a submandibular mass mimicking a submandibular gland tumor. Complete surgical excision provides the best treatment and final diagnosis. A neurofibroma should be considered in the differential diagnosis for submandibular mass

Plexiform Neurofibroma: A Rare Tumor of Submandibular Salivary Gland

A 15-year-old boy presented with swelling in the submandibular region. X-ray of the swollen part showed faint radio opaque shadow. A provisional diagnosis of sialadenitis with sialolithiasis was made. Excised mass was reported histopathologically as plexiform neurofibroma of submandibular salivary gland

The influence of iris color and retina pigment epithelium melanin on allergic rhinitis

Objective: The purpose of this case control study is to establish the influence of iris color and retina pigment epithelium melanin on allergic rhinitis.Methods: Ninety-nine subjects diagnosed prospectively as allergic rhinitis and 85 control subjects were included in the study. Color of iris was recorded after ophthalmic examination. Electro-oculographic measurement was done after pupil dilatation and Arden ratios were recorded.Results: Mean age was 29.44 +/- 9.8 years in subject with allergic rhinitis and 32.67 +/- 12.9 years in control subjects (p>0.05). Measured mean Arden ratio was 158.22 +/- 29.4 in subjects with allergic rhinitis and 179.34 +/- 29.3 in normal subjects (p<0.05). In control group, Arden ratio was significantly higher in eyes with brown iris (p<0.05). In subjects with allergic rhinitis, Arden ratio was significantly lower in brown eyes (p<0.05).Conclusion: An association between allergic rhinitis and melanin content of iris and retina pigment epithelium was found. It can be speculated that pigment-producing system may play a role in the pathogenesis of the allergic rhinitis

Genotyping for Cx26 and Cx30 mutations in cases with congenital hearing loss

Hearing loss is the most frequent sensory defect in human being. The 13q11-q12 region contains the GJB2 and GJB6 genes, which code connexin 26 (CX26) and connexin 30 (CX30) proteins, respectively. The 35delG, 167delT, and 235delC mutations in the Cx26 gene are the main cause for sporadic nonsyndromic hearing loss (NSHL) in many populations. The 342-kb deletion [del(GJB6-D13S1830)] of the Cx30 gene is the second most common connexin mutation after the 35delG mutation in some NSHL populations. In our study 47 hearing-impaired students were included. The Cx26 gene and the Cx30 gene were analyzed for presence of the 35delG, 167delT, and 342-kb deletion [del(GJB6-D13S1830)]. Genotyping were performed for detecting 35delG, 167delT, and del(GJB6-D13S1830) mutations using the PCR-ELISA techniques. According to the results obtained from 47 cases, the 35delG mutation was detected in 7 cases (similar to 14.9%). Four of these mutations were determined as homozygote mutant (similar to 8.5%), and three were determined as heterozygote mutant (similar to 6.4%). However, 167delT and del(GJB6-D13S1830) mutations were not detected in the study group. These results support the overwhelming majority of 35delG in our study group from deafness school in our study. In conclusion, the 35delG mutation was determined as the most frequently shown mutation that leads to congenital hearing loss as in previous studies from Turkey