No abstract

The possible role of RET variants in modifying the natural course of medullary thyroid carcinoma (MTC) is still a matter of debate. Here, we investigate whether the RET variants L769L, S836S, and G691S/S904S influence disease presentation in hereditary or sporadic MTC patients. One hundred and two patients with hereditary MTC and 81 patients with sporadic MTC attending our institution were evaluated. The frequencies of RET polymorphisms in hereditary MTC were as follows: L769L, 17.3%; S836S, 7.95%; and S904S/G691S, 18.2%. No associations were observed between these polymorphisms and pheochromocytoma, hyperparathyroidism, lymph node, or distant metastasis. However, patients harboring the S836S variant were younger than those without this allele (17G8.2 vs 28.6G14.4 years, PZ0.01), suggesting that these patients had metastases at a young age. Accordingly, the cumulative frequency of local and/or distant metastases as estimated by Kaplan-Meier curves showed that lymph node and distant metastases occurred earlier in patients harboring the S836S variant (PZ0.003 and PZ0.026 respectively). The S836S allele frequency was higher in sporadic MTC patients than in controls (10.5 vs 3.1%, PZ0.01). Individuals harboring the S836S variant were younger (38.6G13.3 vs 48.5G16.7 years, PZ0.02) and showed a higher percentage of lymph node and distant metastases (PZ0.02 and PZ0.04 respectively). Kaplan-Meier estimates of lymph node and distant metastases yielded distinct curves for patients with or without the S836S allele (PZ0.002 and PZ0.001 respectively). Additional analyses using a COX regression model showed that the S836S variant was independently associated with metastatic disease (hazard ratio 2.82 (95% confidence interval 1.51-5.26), PZ0.001). In conclusion, the RET S836S variant is associated with early onset and increased risk for metastatic disease in patients with hereditary or sporadic MTC.

Cutaneous larva migrans is a pruritic dermatitis due to the inoculation of helminths larvae in the skin, and it often occurs in children in tropical and subtropical areas. The authors describe an atypical case of cutaneous larva migrans in a 11 year-old child with scalp involvement, an unusual topography for this lesion.

A total of 91 patients were allocated, of which, 45.1% were male. Patients were divided into three groups by SNOT-22. A high average age, late age of diagnosis, rhinitis symptoms, and clinical criteria for rhinosinusitis were observed more frequently in patients with high SNOT-22 scores (p < 0.05). Overall, 84.6% patients had abnormal CT findings, with aplasia/hypoplasia of the sphenoid sinus being the most common finding. In multiple regression model, age, female gender, and Pseudomonas aeruginosa in the sputum were associated with high SNOT-22 scores in the nasal domain. Hyposmia and lack of medial bulging of lateral nasal wall were variables associated with high SNOT-22 scores in the quality of life domain. In total score, there was a positive association with age and the presence of P. aeruginosa in sputum. Despite high prevalence of abnormal tomographic findings, patients reported mild intensity of sinonasal symptoms. Advanced age and the presence of P. aeruginosa were associated with higher SNOT-22 scores.

Papular elastorrhexis is a rare acquired disease, first described in 1987 by Bordas, which has been very rarely reported in the literature. It is characterized by small asymptomatic non-follicular papules, mainly distributed in the trunk. Histology of the lesions shows homogenization of collagen and fragmentation of elastic fibers in the dermis. The rarity of this disease is probably due to the subtlety and benign nature of clinical and histopathological alterations, which can be easily confused with other pathologies. The authors report the case of a patient with exuberant clinical manifestations typical of elastorrhexis papular.