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.

Thermal burns of the oral cavity usually arise from ingestion of hot foods or beverages. A 38-year-old female patient presented with two painful ulcerative erythematous patches of the palate. The patient was consulted on the same day lesions appeared. Medical history was unremarkable. Clinically significant self-inflicted injuries may result in wide ulcers in the mouth and usually do not take less than 2 weeks to heal, whereas our patient, treated with low-level laser therapy, had a complete response in day 4, after 2 days of treatment. The fact that multiple lesions were present signaled against the World Health Organization exclusion diagnosis of erythroplakia for red patches. A traumatic ulcer, regardless of its cause of origin, usually heals within 2 weeks, after the source of injury is resolved. A thermal burn in the oral cavity usually takes longer than that to heal, but whenever this time frame is not respected, the suspicion of a potentially malignant disorder should always arise, and a biopsy should be performed. The present case showed two painful thermal burns with great results in terms of speeding up the relieve of symptoms and healing time with soft laser as opposed to the traditional treatment with oral topical corticosteroid.

Paracoccidioidomycosis is the most prevalent systemic mycosis in Latin America. It is a fungal infection caused by the dimorphic fungus Paracoccidioides brasiliensis. This microorganism can penetrate the human body through direct contact and can cause intense lymphadenopathy, ulcerated lesions in the oral cavity and in the skin among other alterations. In this study, we report a case of paracoccidioidomycosis with unusual clinical presentation, as it manifested in the female sex and although it did not present any relevant complaints of respiratory focus, it presented a single ulcerated lesion in the buccal mucosa. A biopsy of the lesion and a mycological examination revealed Paracoccidioides brasiliensis infection.

Introduction: Syphilis consists in a systemic infect contagious pathology with a chronic character. The etiological agent consists of an anaerobic spirochete bacterium, Treponema pallidum. Laboratory diagnosis can be made through a direct investigation of the etiologic agent or non-treponemal (VDRL) and treponemal (FTA-Abs) serological tests. False-negative results are rare. Objectives: The present report presents a rare case of a man with a secondary syphilis syndrome who was initially undiagnosed due to the prozone effect, since he presented VDRL in low titers, and was later confirmed with a new diluted serum sample and VDRL and FTA-Abs, which were positive. Conclusion: A close look should be given to patients who, although the clinical condition is compatible, complementary exams may not be, and clinical cases should be carefully evaluated so that the patient is not treated late.

Henoch-Schönlein purpura is a vasculitis of small vessels, characterized by tissue deposition of IgA, affecting predominantly the skin, intestine, joints and kidneys. It mainly affects the pediatric age group, especially from 2 to 11 years old. Most often, it is preceded by episode of upper airway infection from days to weeks. The most common clinical manifestations are purpuric cutaneous lesions located in the lower limbs and buttocks, abdominal pain in colic, nausea, vomiting, diarrhea, in addition to arthralgia/arthritis, usually with spontaneous resolution. Renal impairment usually manifests with hematuria and proteinuria, and renal function may also be impaired. The case described refers to a female patient, 86 years old, with a previous history of infection of the upper airways, followed by purpura in the lower limbs and renal impairment: serum creatinine 3.1 mg/dL (N 0.5 -1.2 mg/dL); glomerular filtration rate 15 ml/min (N > 60 ml/min); urea 118 mg/dL (N < 40 g/dL); proteinuria 4.497 mg/24h. The present report aims to draw attention to the occurrence of Henoch-Schönlein purpura in an atypical age group, with significant renal impairment, improvement only with conservative treatment, thus avoiding the use of immunosuppressants and the risks of immunosuppression and toxicity related to such drugs.