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.

Dermoscopy in Selected Latin American Countries: A Preliminary Look into Current Trends and Future Opportunities Among Dermatology Residency Programs.

INTRODUCTION: Skin cancer remains a global public health burden. Dermoscopy is a useful technique that aids in early detection and increases diagnostic accuracy with adequate training. However, dermoscopy is not uniformly taught to residents worldwide. Dermoscopy training in Latin American dermatology residency programs has not been explored. OBJECTIVES: To assess current dermoscopy training among dermatology residency programs in Latin America (eg training modalities, preferred/most effective modalities per residents, diseases/pathologies taught). METHODS: Cross-sectional survey distributed via e-mail between March and May 2021. Chief residents from Argentina, Brazil, Colombia, Costa Rica, Chile, Ecuador, Guatemala, Mexico, Panama, and Uruguay were invited to participate. RESULTS: 81 chief residents completed the questionnaire (81/126, 64.2%). Seventy-two percent of programs had an established dermoscopy curriculum, with dedicated hours of training varying greatly by program. Institutions commonly utilized sessions with "unknown" dermoscopy images and direct teaching by experts in the clinical setting as supplements to lectures, also described by residents as most effective. The most commonly taught methods included pattern analysis (74.1%), the two-step algorithm (61.7%), and the ABCD rule (59.3%). Almost all respondents reported desiring additional training during residency and believe that dermoscopy training should be a requirement to graduate from residency. CONCLUSIONS: This study highlights a preliminary look into current landscape in dermoscopy training among selected Latin American dermatology residency programs, demonstrating room for improvement and standardization in dermoscopic education and training. Our results serve as a baseline reference and provide valuable information to guide future educational initiatives incorporating successful teaching strategies (eg. spaced education/repetition, flipped classroom model) used in dermatology and other fields.

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.

Hidradenitis Suppurativa: Proposal of Classification in Two Endotypes with Two-Step Cluster Analysis.

INTRODUCTION: Hidradenitis suppurativa (HS) is a chronic, inflammatory, recurrent disorder of the pilosebaceous unit. Currently, several attempts have been made to classify this disease according to its pathogenesis and clinical manifestations. We attempted at classifying 103 patients using two-step cluster analysis. METHODS: The final model included body mass index, C-reactive protein (CRP), and serum concentrations of IL-1, IL-6, IL-17, and IL-10 as continuous variables, and sex, later/early onset, anterior/posterior lesion sites, presence/absence of sinus tracts, nodules and abscesses, positive/negative history of pilonidal sinus, and presence/absence of mutations in gamma-secretase subunits (APH1A, APH1B, MEFV, NCSTN, PSEN1, PSEN2, PSENEN, PSTPIP1) as qualitative variables. RESULTS: The resultant model defined two groupings or clusters: cluster 1 (64.9% of patients) characterized by nonobese males, with nodular lesions in posterior sites, early-onset HS, higher IL-10, presence of gamma-secretase mutations, and history of pilonidal sinus; and cluster 2 (35.1% of patients) characterized by obese females or males, with lesions in anterior sites, more presence of sinus tracts and abscesses and less nodules, later-onset HS, and higher concentrations of IL-1, CRP, IL-17, and IL-6. Severity measures (Hurley, HS-PGA, and IHS4) and tobacco use were discarded because the analysis found them to be less relevant for clustering. CONCLUSION: Our resultant model confirms the clinical impression that HS is a disease spectrum with two pathogenic poles defining two clusters or endotypes. The probability of having severe disease was equally distributed in the two clusters. The variable with the highest predictive value for clustering was involvement of typical anterior sites (axillae, submammary) or atypical posterior sites (back, gluteal). Serum concentrations of interleukins, tobacco use, and sex had a lower predictive power for clustering.

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.