Familial Melanoma Phenotype With Xeroderma Pigmentosum Group C (XP-C) Genotype - The Putative Role of MC1R Polymorphism as Modifier.

INTRODUCTION: Xeroderma pigmentosum (XP), a rare inherited condition, hallmarked by extreme sensitivity to sun exposure resulting in multiple skin cancers and non-malignant skin alterations is attributed to homozygous inactivating pathogenic variants (PVs) in DNA repair genes, predominantly the XPC gene. OBJECTIVES: Report a unique phenotypic expression of mutant XPC allele that may be compatible with a putative modifier role for MC1R polymorphism. METHODS: A family of 13 siblings, seven of whom were diagnosed with at least one cutaneous melanoma (N = 53) and non-melanoma skin cancers (N = 9) was studied. Of seven melanoma-affected cases, five consented for genetic analysis. CDKN2A revealed no PV in any case and subsequent whole-exome sequencing (WES) identified a rare homozygous missense PV (c.919C>T; p.Arg307Trp) in exon 8 of the XPC gene in all affected individuals. Notably, XPC PV carriers who co-harbored the p.I155T MC1R variant (N = 3) exhibited larger number of tumors, deeper Breslow indexes, higher rates of invasive melanomas and earlier age at diagnosis compared with non MC1R variant carriers (N = 2). CONCLUSIONS: Familial malignant melanoma phenotype may, in fact, be an unusual clinical presentation of XPC, and MC1R may be a genetic modifier of penetrance and phenotype of mutant XPC alleles.

Epidemiological and clinical study of cases of endemic pemphigus foliaceus and pemphigus vulgaris in a reference center in the state of Minas Gerais, Brazil

Abstract Background: Pemphigus constitutes a group of autoimmune bullous diseases. A reduction in the incidence of endemic pemphigus foliaceus and an increase in pemphigus vulgaris has been described, but there are no studies in Minas Gerais that address the subject. Objective: To describe the epidemiological and clinical profile of patients with pemphigus treated at the Dermatology Service of a public University Hospital in the state of Minas Gerais, Brazil. Methods: An observational, descriptive, and cross-sectional study was carried out of cases of endemic pemphigus foliaceus and pemphigus vulgaris, for a period of six months. A questionnaire was filled out with epidemiological and clinical data on the disease. Results: A total of 122 patients were included in the study, 64 with endemic pemphigus foliaceus and 58 with pemphigus vulgaris. When comparing patients with endemic pemphigus foliaceus and those with pemphigus vulgaris, a statistical difference was observed between the median age of initial disease manifestation (p = 0.001), patient occupation (p = 0.010), area of residence (p = 0.000), forests (p = 0.000) and rivers/streams close to the dwelling (p = 0.001) and the number of systemic medications required to control the disease (p = 0.002). When comparing patients with endemic pemphigus foliaceus to those evaluated in a study carried out at the same service in 2008, there was a statistical difference in the area of residence (p = 0.030). Study limitations: The assessed population comes from a tertiary care service that is not a reference for the entire state. Conclusions: Patients with endemic pemphigus foliaceus and pemphigus vulgaris maintain statistically significant differences regarding their main variables in the literature, such as age and area of residence. Historically, there has been a reduction in cases of endemic pemphigus foliaceus and an increase in cases of pemphigus vulgaris in this population.

Epidemiological and clinical study of cases of endemic pemphigus foliaceus and pemphigus vulgaris in a reference center in the state of Minas Gerais, Brazil.

BACKGROUND: Pemphigus constitutes a group of autoimmune bullous diseases. A reduction in the incidence of endemic pemphigus foliaceus and an increase in pemphigus vulgaris has been described, but there are no studies in Minas Gerais that address the subject. OBJECTIVE: To describe the epidemiological and clinical profile of patients with pemphigus treated at the Dermatology Service of a public University Hospital in the state of Minas Gerais, Brazil. METHODS: An observational, descriptive, and cross-sectional study was carried out of cases of endemic pemphigus foliaceus and pemphigus vulgaris, for a period of six months. A questionnaire was filled out with epidemiological and clinical data on the disease. RESULTS: A total of 122 patients were included in the study, 64 with endemic pemphigus foliaceus and 58 with pemphigus vulgaris. When comparing patients with endemic pemphigus foliaceus and those with pemphigus vulgaris, a statistical difference was observed between the median age of initial disease manifestation (p = 0.001), patient occupation (p = 0.010), area of residence (p = 0.000), forests (p = 0.000) and rivers/streams close to the dwelling (p = 0.001) and the number of systemic medications required to control the disease (p = 0.002). When comparing patients with endemic pemphigus foliaceus to those evaluated in a study carried out at the same service in 2008, there was a statistical difference in the area of residence (p = 0.030). STUDY LIMITATIONS: The assessed population comes from a tertiary care service that is not a reference for the entire state. CONCLUSIONS: Patients with endemic pemphigus foliaceus and pemphigus vulgaris maintain statistically significant differences regarding their main variables in the literature, such as age and area of residence. Historically, there has been a reduction in cases of endemic pemphigus foliaceus and an increase in cases of pemphigus vulgaris in this population.

Extradigital glomus tumor: dermoscopic description and histopathological correlation

Abstract Glomus tumors are rare benign neoplasms arising from the neuromyoarterial structure called glomus body. They present as angiomatous papules, soft and painful, especially to cold and pressure. In general, they are solitary and affect the extremities, located mainly the subungual bed. Extradigital lesions are rare and can constitute a diagnostic challenge. This is the report of a patient with an extradigital lesion on the left arm, and its dermoscopic aspects, including angiomatous lagoons circumscribed by a pale halo, a structure not previously described in the two reports of extradigital glomus tumor with dermoscopic features, found in the literature.

Extradigital glomus tumor: dermoscopic description and histopathological correlation.

Glomus tumors are rare benign neoplasms arising from the neuromyoarterial structure called glomus body. They present as angiomatous papules, soft and painful, especially to cold and pressure. In general, they are solitary and affect the extremities, located mainly the subungual bed. Extradigital lesions are rare and can constitute a diagnostic challenge. This is the report of a patient with an extradigital lesion on the left arm, and its dermoscopic aspects, including angiomatous lagoons circumscribed by a pale halo, a structure not previously described in the two reports of extradigital glomus tumor with dermoscopic features, found in the literature.

Total body mapping in the follow-up of melanocytic lesions: recommendations of the Brazilian Society of Dermatology

Abstract Total body mapping comprises photographic documentation of the entire body surface followed by digital dermatoscopy of selected melanocytic lesions, aiming to compare their evolution over time and identify new lesions. As this is an exam based on comparative analysis of serial dermoscopic body images, standardization of the technique for performing total body mapping is essential. Prepared by specialists from the Brazilian Society of Dermatology, using the modified Delphi method, this article provides recommendations for carrying out total body mapping in Brazil, regarding its indications, technical aspects, and the issuing of the report.

Total body mapping in the follow-up of melanocytic lesions: recommendations of the Brazilian Society of Dermatology.

Total body mapping comprises photographic documentation of the entire body surface followed by digital dermatoscopy of selected melanocytic lesions, aiming to compare their evolution over time and identify new lesions. As this is an exam based on comparative analysis of serial dermoscopic body images, standardization of the technique for performing total body mapping is essential. Prepared by specialists from the Brazilian Society of Dermatology, using the modified Delphi method, this article provides recommendations for carrying out total body mapping in Brazil, regarding its indications, technical aspects, and the issuing of the report.

Dermoscopic evaluation of superficial spreading melanoma.

BACKGROUND: Dermoscopy increases the sensitivity of the diagnosis of melanoma, leading to its early identification and increasing the chances of cure. OBJECTIVE: To describe the clinical and dermoscopic characteristics of superficial spreading melanomas, and to detect the differences between in situ and invasive 1-mm thick melanomas. METHODS: This was a cross-sectional study in which dermoscopic images of 58 melanomas, grouped according to their thickness, were evaluated. RESULTS: 24 in situ melanomas were evaluated, 28 invasive melanomas with Breslow ≤ 1 mm (0.50 ±â€¯0.22 mm) and six with Breslow > 1 mm (2.35 ±â€¯2.02 mm). In situ melanomas were smaller than invasive melanomas. The most commonly found dermoscopic criteria were asymmetry (84.5%), three or more colors (81.0%), and atypical network (79.3%). A non-specific pattern was more common in in situ melanomas (p = 0.028) and atypical network in invasive melanomas with Breslow 1 mm presented inverted network (p = 0.018). STUDY LIMITATIONS: The sample was selected by convenience, since it was necessary to have a preoperative photo of the tumor, which may have led to the loss of clinically less significant lesions, as well as those highly suggestive of melanoma. CONCLUSIONS: Melanomas in early stages showed a more frequent nonspecific pattern and atypical network, while invasive melanomas showed a multicomponent pattern, three or more colors, and an inverted network.

Correction to: Diagnosis of Cutaneous Melanoma: the Gap between the Knowledge of General Practitioners and Dermatologists in a Brazilian Population.

The original version of this article unfortunately contained a mistake. The name of "Carolina Ledsham" is now corrected in the author group of this article.

Diagnosis of Cutaneous Melanoma: the Gap Between the Knowledge of General Practitioners and Dermatologists in a Brazilian Population.

The early diagnosis of cutaneous melanoma provides less aggressive treatment reducing mortality. General practitioners are responsible for cancer diagnoses in the Brazilian Public Health System and therefore play a crucial role in the prevention and early detection of melanoma. To assess the melanoma knowledge of a primary healthcare physician, the general practitioner, compared to a dermatologist. General practitioners and dermatologists answered a questionnaire about melanoma and the management of suspected cases. The results of both groups were compared. The sample consisted of 80 specialists and 160 general practitioners. When asked about the "ABCDE" rule, 96.2% of the dermatologists knew about it, compared to 34.4% of the general practitioners. The percentage of dermatologists who examined the whole skin of the patient at high risk for melanoma was 90% vs. 24.5% amongst general practitioners. The most cited reasons for the absence of the examination of patients at risk for melanoma were lack of time at the consultations (17.6% specialists, 66.1% generalists) and an excessive number of patients (17.6% specialists, 61.5% generalists). General practitioner has less knowledge about melanoma compared to the dermatologists and presents deficient behaviors about patients at risk or who have suspicious lesions, indicating the need for training and continuing education.

Wound myiasis: the role of entodermoscopy

Abstract: Although wound or traumatic myiasis is common in tropical countries, only recently cases associated with underlying dermatoses, such as seborrheic dermatitis and psoriasis, have been reported. We describe a patient with seborrheic dermatitis and an ulcerated lesion on the scalp, in which the dermatological examination with the aid of dermoscopy allowed the identification of larvae (maggots) compatible with infestation by Cochliomyia hominivorax. Treatment was performed with oral and topical ivermectin, followed by manual extraction of the larvae.

Wound myiasis: the role of entodermoscopy.

Although wound or traumatic myiasis is common in tropical countries, only recently cases associated with underlying dermatoses, such as seborrheic dermatitis and psoriasis, have been reported. We describe a patient with seborrheic dermatitis and an ulcerated lesion on the scalp, in which the dermatological examination with the aid of dermoscopy allowed the identification of larvae (maggots) compatible with infestation by Cochliomyia hominivorax. Treatment was performed with oral and topical ivermectin, followed by manual extraction of the larvae.

Prognostic factors for metastasis in cutaneous melanoma.

BACKGROUND: Melanoma is a malignant neoplasia that shows high mortality when diagnosed in advanced stages. Early identification of high-risk patients for the development of melanoma metastases is the main strategy to reduce mortality. OBJECTIVE: To assess the influence of eight epidemiological and histopathologic features on the development of metastases in patients diagnosed with primary cutaneous melanoma. METHODS: Our historical cohort comprised patients with invasive primary cutaneous melanoma seen between 1995 and 2012 at a public university hospital and a private oncologic surgery institution in Southeastern Brazil. The following variables were analyzed: gender, age, family history of melanoma, site of the primary tumor, clinical and histologic subtype, Breslow thickness, histologic ulceration and the mitotic index. Kaplan-Meier univariate test and multivariate Cox proportional hazard analysis were used to assess factors associated with disease-free survival. RESULTS: Five hundred and fourteen patients were enrolled. The univariate analysis identified the following significant risk factors: gender, age, site of the tumor, clinical and histologic subtype, Breslow thickness, histologic ulceration and mitotic index. Multivariate analysis included 244 patients and detected four significant prognostic factors: male gender, nodular clinical and histologic subtype, Breslow thickness > 4mm, and histologic ulceration. The mitotic index was not included in this analysis. STUDY LIMITATIONS: Small number of patients in multivariate analysis. CONCLUSIONS: The following prognostic factors to the development of melanoma metastasis were identified in the study: male gender, nodular histologic subtype, Breslow thickness > 4mm and ulceration.

Prognostic factors for metastasis in cutaneous melanoma

Abstract: Background: Melanoma is a malignant neoplasia that shows high mortality when diagnosed in advanced stages. Early identification of high-risk patients for the development of melanoma metastases is the main strategy to reduce mortality. Objective: To assess the influence of eight epidemiological and histopathologic features on the development of metastases in patients diagnosed with primary cutaneous melanoma. Methods: Our historical cohort comprised patients with invasive primary cutaneous melanoma seen between 1995 and 2012 at a public university hospital and a private oncologic surgery institution in Southeastern Brazil. The following variables were analyzed: gender, age, family history of melanoma, site of the primary tumor, clinical and histologic subtype, Breslow thickness, histologic ulceration and the mitotic index. Kaplan-Meier univariate test and multivariate Cox proportional hazard analysis were used to assess factors associated with disease-free survival. Results: Five hundred and fourteen patients were enrolled. The univariate analysis identified the following significant risk factors: gender, age, site of the tumor, clinical and histologic subtype, Breslow thickness, histologic ulceration and mitotic index. Multivariate analysis included 244 patients and detected four significant prognostic factors: male gender, nodular clinical and histologic subtype, Breslow thickness > 4mm, and histologic ulceration. The mitotic index was not included in this analysis. Study limitations: Small number of patients in multivariate analysis. Conclusions: The following prognostic factors to the development of melanoma metastasis were identified in the study: male gender, nodular histologic subtype, Breslow thickness > 4mm and ulceration.