No abstract

Basal cell nevus syndrome (BCNS), also referred to as nevoid basal cell carcinoma syndrome or Gorlin-Goltz syndrome, was first described by Gorlin and Goltz in 1960 as an autosomal dominant disorder characterized by the early appearance of multiple basal cell carcinomas (BCCs), keratocysts of the jaw, ectopic calcifications, palmar and plantar pits, and anomalies of the ocular, skeletal, and reproductive systems. The genesis of this cancer's etiology in relation to BCNS was unclear until a few years ago when molecular analysis studies suggested a relationship between BCC and the loss-of-function mutations of the patched gene (PTCH) found on chromosome arm 9q. PTCH inhibits signaling by the membrane protein Smoothened (Smo), and this inhibition is relieved by binding sonic hedgehog (SHH) to PTCH. We describe a patient with multiple BCCs associated with x-ray anomalies of BCNS and review the basis of the SHH signaling pathway and clinical aspects of BCNS.

Mucosal melanomas are primary malignant neoplasias originated from melanocytes within mucous membranes in any part of mucosal surface lining, more commonly, in the nasal cavity and accessory sinuses, oral cavity, lips, pharynx, vulvar, vaginal, cervix and anorectal mucosa. Epidemiology data regarding mucosal melanomas in Brazil is scarce, hence the motivation to conduct this research paper. The χ2 test was used to compare categorical variables. Forward stepwise logistic regression method was used in the multivariate analysis to identify independent predictors of early death. A total of 801 patients were included in the analysis. Surgical resection is frequently the first approach to primary tumours (65.3%), even though the utility of lymph node surgery and radiation therapy is not well established. Advanced stage was observed in more than two thirds of patients. Early death was observed in 28.3%. MM cases with regional or distant metastases as well as those located in unusual locations had almost 4 times more risk for early death. Besides that, MM located in lips, oral cavity and pharynx and those receiving chemotherapy had 2 times more risk of early death.Mucosal melanoma (MM) is a primary malignant neoplasia originated from melanocytes within mucous membranes in any part of mucosal surface lining, more commonly, the head and neck region, followed by anorectal mucosa and vulvovaginal mucosa 1-3 . MM is rare and represents approximately 1% of all melanoma cases 1 . On top of that, the disease has a terrible prognosis, with a five year survival rate of only 25% compared to 80% in cutaneous melanomas 1,2 .Feller and collaborators state that regardless of the treatment approach, MM is constantly fatal 4 . Notwithstanding, Ascierto and collaborators believe that the advances in melanoma treatment, especially related to the new discoveries on the scope of the molecular profile of these tumours, boosted the optimism when it comes to the possibility of more effective systemic therapies available 5 .There is a lack of nationwide studies regarding MMs in Brazil. The purpose of this research was to fill this gap clarifying the scientific community about the epidemiological characteristics of MM in the country with special emphasis on MM's early death predictors. open Scientific RepoRtS | (2020) 10:505 | https://doi.org/10.1038/s41598-019-57253-6www.nature.com/scientificreports www.nature.com/scientificreports/ penis and other male urinary tract non-specified MM, genitourinary tract, peritoneum and retroperitoneum MM. Regarding the status of patients at the end of first course of treatment, progressive disease, relapsed disease or death were the highest (68.9%) in anorectal MM and partial remission, stable disease and complete response reached 63.0% in nasal and paranasal MM ( Table 3).The univariate analysis of the risk factors for early death in mucosal melanoma is presented in Table 4, while the multivariate analysis is presented in Table 5. MM cases with regional or distant metastases as well as those located in the dig...

Erysipelatoid Carcinoma (EC), also known as Inflammatory Metastatic Carcinoma, is a rare form of cutaneous metastasis, secondary to an internal malignancy, more often related to breast cancer. Clinically, the lesion has a well-marked, bound erythematous appearance, much like an infectious process, such as erysipelas and cellulitis, these being the most common differential diagnoses. It is characterized by an acute or subacute appearance with an erythematous plaque, sometimes hot and painful, being more often situated in the primary tumor vicinity, especially in the thorax wall in the region of a mastectomy due to breast cancer. Here we present the case of a 75-year-old patient with ductal infiltrated carcinoma for 3 years, who presented an acute erythematous and infiltrated plaque in the region of a previous mastectomy, with a final diagnosis of EC.