Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by mutations in BRAF, MEK1, MEK2, or KRAS. The NS phenotype is rarely accompanied by multiple giant cell lesions (MGCL) of the jaw (Noonan-like/MGCL syndrome (NL/MGCLS)). PTPN11 mutations are the only genetic abnormalities reported so far in some patients with NL/MGCLS and in one individual with LEOPARD syndrome and MGCL. In a cohort of 75 NS patients previously tested negative for mutations in PTPN11 and KRAS, we detected SOS1 mutations in 11 individuals, four of whom had MGCL. To explore further the relevance of aberrant RAS-MAPK signaling in syndromic MGCL, we analyzed the established genes causing CFCS in three subjects with MGCL associated with a phenotype fitting CFCS. Mutations in BRAF or MEK1 were identified in these patients. All mutations detected in these seven patients with syndromic MGCL had previously been described in NS or CFCS without apparent MGCL. This study demonstrates that MGCL may occur in NS and CFCS with various underlying genetic alterations and no obvious genotype -phenotype correlation. This suggests that dysregulation of the RAS-MAPK pathway

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SummaryBackground:Cherubism is an uncommon hereditary benign fibro-osseous disorder characterized by bilateral enlargement of the mandible and the maxilla that presents with varying degrees of involvement and a tendency toward spontaneous remission. On radiography cherubic lesions appear as cystic multilocular radiolucencies limited to the jaw bones.Case Report:A 5-year-old boy was referred to the Department of Maxillo-Facial Surgery due to deformation of the lower and middle section of the face and displacement or absence of teeth. A panoramic radiograph and a computed tomography revealed extensive multilocular, bilateral radiolucent areas and marked bony expansion in the mandible and maxilla, with sparing of the mandibular condyles. Histopathological evaluation of an incisional biopsy of the left maxilla and genotypic characterization confirmed the diagnosis of cherubism.Conclusions:The radiologic characteristics of cherubism are not pathognomonic but the diagnosis is strongly suggested by bilateral relatively symmetric jaw involvement that is limited to the jaw bones and, together with clinical and histopathologic findings, enables the diagnosis of cherubism. Genotypic characterization confirms the diagnosis.

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Heavy metal influence on the environment and humans is well known, although not all aspects are fully understood. Increased manufacturing and industrial growth without any proper approach for usage, distribution, and storage of heavy metals might lead to a very dangerous influence not only on an entire ecosphere, but also might affect human health. Because of different forms of exposure to heavy metals, different forms of after-exposure diseases might appear. Exposure by air, water, direct contact, and even by consumption -along with other less common ways of exposure -have been mentioned globally [1].Soil and water exposed to heavy metals results in both animal and plant metal poisoning. Humans at the end of the food chain are exposed on any long-or short-term influence of heavy metal poisoning [2]. Many variables are related to poison activity on humans and the environment. Factors such as age, coexisting other diseases, and time and type of exposure are very important. Different topics are related to the environment. Type of soil, insolation, and closure to any human habitats and other factors should always be considered when discussing heavy metal exposure. Accumulation of heavy metals is dangerous for the environment. A special focus should be particularly used in order to avoid improper heavy metal disposal and increase a safe and long-term method for waste storage [3]. In order to fully understand the impact of heavy metals on humans and the environment is unlikely to improve factory production and safety standards [4].Evaluate and describe briefly how lead and cadmium heavy metal exposure influences the sight organ and discuss whether it is a common or rare occurrence.Pol. J. Environ. Stud. Vol. 24, No. 4 (2015) AbstractNowadays heavy metals in the environment and everyday life are very common. Their usage and influence in industry is essential. Quite often not only the environment but also general human health might be impacted by their use and presence. Metal poisoning and its effect on living structures and tissues impacts their condition. The environment and every living species in it are heavily vulnerable to any heavy metal exposure and might lead to catastrophic natural disasters. In humans skin irritations and general diseases are not so common, but they do appear, and everyone should be aware of this. In this paper we focus on a very special topic related to heavy metal exposure to eyesight and their influence on this important organ. Lead and cadmium are the most common heavy metals used almost everywhere.

Hyaluronic acid is among the most commonly used cosmetic fillers. Although considered biocompatible and safe, it may rarely cause a wide range of complications. The authors report a case of migration of hyaluronic acid concomitant with granulomatous inflammatory response that mimicked a buccal tumor. A 52-year-old female presented with a solid painless mass of the right buccal area. The patient denied any history of trauma and cosmetic procedures of the affected area. Skin and mucosal membrane were intact and the lesion was firm and well fixed in the deep plane. Due to worrisome clinical presentation and the patient's history of breast cancer, the lesion was excised radically. Histopathological examination revealed multiple granulomas surrounding amorphous lakes of hyaluronic acid. During repeated, thorough anamnesis the patient admitted having underwent lip augmentation and nasolabial fold correction with HA two years before, after which the filler must have migrated posteriorly. Physicians need to be aware of various complications associated with cosmetic fillers as they may mimic severe clinical conditions.