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Basal cell carcinoma (BCC) arises from the basal cells of the epidermis and its appendages and is currently the most common skin cancer. It occurs mainly in women between 70 and 80 years old and in rural areas. Among the main risk factors identified are exposure to ultraviolet radiation (mainly solar radiation), but also to tanning beds and phototherapy. Other factors include chronic arsenic exposure, ionizing radiation, light skin and red hair phenotypes, and polymorphisms associated with melanocortin receptors, agouti and tyrosinase signaling proteins. Basal cell carcinoma is the most common type of skin cancer and tumor. Common to people, this malignant neoplasm is locally aggressive, aggressive, and destructive, but its ability to metastasize is very limited. There are different types: nodular, ulcerative, pigmented, sclerosing and superficial. The following clinical case addresses the resection of a nodular basal cell carcinoma located in the cheek, and subsequent reconstruction using a Mustardé Flap, with a successful result. Its evolution was favorable, with complete resection of the tumor lesion and vitality of the postoperative flap. We present a clinical case of a facial basal cell carcinoma with a high risk of recurrence that was treated safely and effectively with a Mustardé flap., El carcinoma de células basales (CBC) surge de las células basales de la epidermis y sus apéndices y actualmente es el cáncer de piel más común. Ocurre principalmente en mujeres de entre 70 y 80 años y en zonas rurales. Entre los principales factores de riesgo identificados destacan la exposición a la radiación ultravioleta (principalmente radiación solar), pero también a las camas solares y la fototerapia. Otros factores incluyen: exposición crónica al arsénico, radiación ionizante, fenotipos de piel clara y cabello rojo, y polimorfismos asociados con receptores de melanocortina, proteínas de señalización agutí y tirosinasa. El carcinoma de células basales es el tipo más común de cáncer y tumor de piel. Común a la gente, esta neoplasia maligna es localmente agresiva, agresiva y destructiva, pero su capacidad de metastatizar es muy limitada. Hay diferentes tipos: nodular, ulcerosa, pigmentada, esclerosante y superficial. El siguiente caso clínico aborda la resección de un carcinoma basocelular nodular ubicado en mejilla, y posterior reconstrucción mediante el uso de un Colgajo de Mustardé, con resultado exitoso. Su evolución favorable, con resección completa de la lesión tumoral y vitalidad del colgajo postoperatorio. Presentamos un caso clínico de un carcinoma basocelular facial con alto riesgo de recurrencia que fue tratado en forma segura y efectiva con un colgajo de Mustardé.

Background: It has not been clearly established if skin cancer or melanoma are manifestations of BRCA1 or BRCA2 mutation carrier status. Estimating the risk of skin cancer is an important step towards developing screening recommendations. Methods: We report the findings of a prospective cohort study of 6,207 women from North America who carry BRCA1 or BRCA2 mutations. Women were followed from the date of baseline questionnaire to the diagnosis of skin cancer, to age 80 years, death from any cause, or the date of last follow-up. Results: During the mean follow-up period of eight years, 3.7% of women with a BRCA1 mutation (133 of 3,623) and 3.8% of women with a BRCA2 mutation (99 of 2,584) reported a diagnosis of skin cancer (including both keratinocyte carcinomas and melanoma). The cumulative risk of all types of skin cancer from age 20 to 80 years was 14.1% for BRCA1 carriers and 10.7% for BRCA2 carriers. The cumulative risk of melanoma was 2.5% for BRCA1 carriers and 2.3% for BRCA2 carriers, compared to 1.5% for women in the general population in the United States. The strongest risk factor for skin cancer was a prior diagnosis of skin cancer. Conclusion: The risk of non-melanoma skin cancer in women who carry a mutation in BRCA1 or BRCA2 is similar to that of non-carrier women. The risk of melanoma appears to be slightly elevated. We suggest that a referral to a dermatologist or primary care provider for BRCA mutation carriers for annual skin examination and counselling regarding limiting UV exposure, the use of sunscreen and recognizing the early signs of melanoma might be warranted, but further studies are necessary.

Basal cell carcinoma is a very common entity in photoexposed areas in males in the 6-7th decade of life. There are different locations and the perianal area is one of the much less common. Its diagnosis is confirmed by pathology and immunohistochemistry. Treatment is based on excision with margins. This article presents a case of a 74-year-old man with a diagnosis of basal cell carcinoma in the perianal area who was treated at our center., El carcinoma basocelular es una entidad muy frecuente en las zonas fotoexpuestas en el género masculino sobre la 6-7ª década de la vida. Sus localizaciones son variadas, siendo la zona perianal una localización inusual. Su diagnóstico se confirma mediante el estudio anatomopatológico y la inmunohistoquímica. El tratamiento se basa en la escisión con márgenes. Aquí presentamos un caso de un varón de 74 años con carcinoma basocelular tratado en nuestro centro.

Background/Objectives: Cidofovir, an antiviral drug approved for cytomegalovirus retinitis, has emerged as an alternative treatment option for virally induced cutaneous and mucocutaneous conditions, as well as being trialed as a treatment for select neoplasms. In this review, we highlight the existing evidence, clinical uses, and rationale of using cidofovir for the treatment of cutaneous pathologies. Methods: A PubMed database literature search was conducted to identify relevant articles for inclusion in this review. Results: Cidofovir has several cutaneous applications in various formulations including intravenous, topical, and subcutaneous administrations. Primarily through case reports, case series, and retrospective reviews, cidofovir has demonstrated efficacy in treating a variety of virally induced conditions-verruca vulgaris, herpes simplex virus, molluscum contagiosum-as well as in adjuvant treatment for select neoplasms. The drug has shown efficacy in immunocompromised and immunocompetent adults and children alike. Conclusions: The body of literature supports the use of cidofovir as an effective and well-tolerated treatment for many viral cutaneous pathologies, and encourages further study for its use as an adjuvant therapy for neoplastic disease.

BACKGROUND: It has not been clearly established if skin cancer or melanoma are manifestations of BRCA1 or BRCA2 mutation carrier status. Estimating the risk of skin cancer is an important step towards developing screening recommendations. METHODS: We report the findings of a prospective cohort study of 6,207 women from North America who carry BRCA1 or BRCA2 mutations. Women were followed from the date of baseline questionnaire to the diagnosis of skin cancer, to age 80 years, death from any cause, or the date of last follow-up. RESULTS: During the mean follow-up period of eight years, 3.7% of women with a BRCA1 mutation (133 of 3,623) and 3.8% of women with a BRCA2 mutation (99 of 2,584) reported a diagnosis of skin cancer (including both keratinocyte carcinomas and melanoma). The cumulative risk of all types of skin cancer from age 20 to 80 years was 14.1% for BRCA1 carriers and 10.7% for BRCA2 carriers. The cumulative risk of melanoma was 2.5% for BRCA1 carriers and 2.3% for BRCA2 carriers, compared to 1.5% for women in the general population in the United States. The strongest risk factor for skin cancer was a prior diagnosis of skin cancer. CONCLUSION: The risk of non-melanoma skin cancer in women who carry a mutation in BRCA1 or BRCA2 is similar to that of non-carrier women. The risk of melanoma appears to be slightly elevated. We suggest that a referral to a dermatologist or primary care provider for BRCA mutation carriers for annual skin examination and counselling regarding limiting UV exposure, the use of sunscreen and recognizing the early signs of melanoma might be warranted, but further studies are necessary.

Basal cell carcinoma (BCC) is the most frequent malignancy in the general population. To date, dermoscopy is considered a key tool for the diagnosis of BCC; nevertheless, line-field confocal optical coherence tomography (LC-OCT), a new non-invasive optical technique, has become increasingly important in clinical practice, allowing for in vivo imaging at cellular resolution. The present study aimed to investigate the possible correlation between the dermoscopic features of BCC and their LC-OCT counterparts. In total, 100 histopathologically confirmed BCC cases were collected at the Dermatologic Clinic of the University of Siena, Italy. Predefined dermoscopic and LC-OCT criteria were retrospectively evaluated, and their frequencies were calculated. The mean (SD) age of our cohort was 65.46 (13.36) years. Overall, BCC lesions were mainly located on the head (49%), and they were predominantly dermoscopically pigmented (59%). Interestingly, all dermoscopic features considered had a statistically significant agreement with the LC-OCT criteria (all p < 0.05). In conclusion, our results showed that dermoscopic patterns may be associated with LC-OCT findings, potentially increasing accuracy in BCC diagnosis. However, further studies are needed in this field., SCOPUS: ar.j, info:eu-repo/semantics/published

Background: Metastatic basal cell carcinoma (MBCC) occurs at an exceedingly low rate, with an estimated incidence of 0.0028%, or 28 cases per 1,000,000 BCC diagnoses. The biological mechanisms underlying the metastatic potential of BCC remain poorly understood. This systematic review aims to evaluate the histopathologic features of MBCC based on literatures of the last 10 years. Methods: The study adhered to PRISMA 2020 standards, examining English literature from 2014 to 2024. It excluded editorials, reviews from the same journal, and submissions without a DOI. PubMed, SagePub, SpringerLink, and Google Scholar were utilized as literature sources. Result: Initially retrieving 360 articles from online databases (PubMed, SagePub, SpringerLink and Google Scholar) eight relevant papers were selected after three rounds of screening for full-text analysis. Conclusion: Histopathologic diagnosis of metastatic basal cell carcinoma is crucial for determining tumor type, assessment of invasion depth, examination of excised margins, and identification of lymphovascular or perineural invasion. Molecular analysis can reveal mutations influencing tumor behavior and treatment resistance.

Introduction: Skin cancer has a high incidence, with an increasing trend worldwide. These carcinomas are preventable, both by lifestyle changes and by the detection of lesions indicative of malignant transformation. Development: The development addresses what is skin cancer, the different types of cancer, its different manifestations and signs. In addition, it addresses what is dermatology Arriving at the conclusion. with future lines of research with respect to the subject matter addressed in the article. Conclusions: This type of tumors cause health problems not only because of the high morbidity, but also because the surgical treatment negatively affects the aesthetics, morphology and functions of the patient, and it is also expensive due to the need for repeated surgeries. These tumors often recur. Therefore, it is necessary to develop primary and secondary health prevention strategies aimed at reducing the negative impact of this health problem on the population., Introducción: El cáncer de piel tiene gran incidencia, con tendencia ascendente a nivel mundial. Estos carcinomas son prevenibles, tanto por cambios en los estilos de vida como por la detección de lesiones indicativas de transformación maligna Desarrollo: El desarrollo aborda que es el cáncer de la piel, los diferentes tipos de cáncer, sus diferentes manifestaciones y signos. Además, se aborda que es la dermatología Llegando a la conclusión. con las futuras líneas de investigación con respecto a la temática abordada en el artículo. Conclusiones: Este tipo de tumores causan problemas de salud no sólo por la alta morbilidad, sino también porque el tratamiento quirúrgico afecta negativamente a la estética, morfología y funciones del paciente, y además es costoso debido a la necesidad de repetidas cirugías. Estos tumores suelen reaparecer. Por lo tanto, es necesario desarrollar estrategias de prevención primaria y secundaria en salud encaminadas a reducir el impacto negativo de este problema de salud en la población.

Background: Systemically delivered hedgehog inhibitors including vismodegib and sonidegib are widely used to treat basal cell carcinomas (BCCs). Ablative fractional laser (AFL)-assisted topical delivery of vismodegib has been demonstrated in preclinical studies. The aim of this explorative clinical study was to evaluate intratumoral vismodegib concentrations and effect on hedgehog pathway gene expression following AFL-assisted topical vismodegib delivery to BCCs. Methods: In an open-label clinical trial, 16 nodular BCCs (in n = 9 patients) received one application of CO2-AFL (40 mJ/microbeam, 10% density) followed by topical vismodegib emulsion. After 3–4 days, vismodegib concentrations in tumor biopsies (n = 15) and plasma were analyzed and compared with samples from patients receiving oral treatment (n = 3). GLI1, GLI2, PTCH1, and PTCH2 expression was determined by quantitative polymerase chain reaction (n = 7) and GLI1 additionally by in situ hybridization (n = 3). Results: Following AFL-assisted topical administration, vismodegib was detected in 14/15 BCCs and reached a median concentration of 6.2 µmol/L, which compared to concentrations in BCC tissue from patients receiving oral vismodegib (9.5 µmol/L, n = 3, p = 0.8588). Topical vismodegib reduced intratumoral GLI1 expression by 51%, GLI2 by 55%, PTCH1 and PTCH2 each by 73% (p ≤ 0.0304) regardless of vismodegib concentrations (p ≥ 0.3164). In situ hybridization demonstrated that GLI1 expression was restricted to tumor tissue and downregulated in response to vismodegib exposure. Conclusion: A single AFL-assisted topical application of vismodegib resulted in clinically relevant intratumoral drug concentrations and significant reductions in hedgehog pathway gene expressions.

Background: Basal cell carcinoma (BCC) is the most common skin cancer and can cause local tissue damage. BCC can occur in all populations, regardless of skin color. Dermoscopy has compatibility with histopathology in determining the benign or malignant nature of a lesion. Dermoscopy can improve the diagnostic accuracy of BCC by >90%, with 7 parameters that can be found: arborizing vessels, blue-gray ovoid nests, blue-gray dots/globules, maple leaf-like areas, spoke-wheel areas, ulceration, and hiny white areas. Purpose: To assess the compatibility of each dermoscopy parameter with its corresponding histopathological parameters. Methods: Observational analytic study with a cross-sectional approach was performed. Dermoscopy parameters were obtained by reassessing all photographs, while histopathological parameters were obtained from pre-existing slide reviews. Cohen's Kappa test was performed to analyze both variables. Result: A Total of 26 samples met the inclusion criteria. Most BCCs were found in female sex (65.4%), age >50 years (80.8%), and facial location (88.5%). Cohen's Kappa test was significant in 2 out of 7 dermoscopy parameters: "blue-gray ovoid nests" (p = 0.0019; r = 0.458) and "spoke wheel areas" (p = 0.037; r = 0.371). The "shiny white areas” parameter could not be analyzed because there was no negative variation in the examination. The possibility of false positives and negatives could not be ruled out. Conclusion: Significance between the two variables is found in 28.6% of the 7 parameters analyzed...

Skin cancer is the most common tumor, with basal cell carcinoma being the most common. It is a slow-growing tumor that occurs mainly in photoexposed skin, with a low percentage of metastasis. But, if it is not treated in time, it can be destructive and even disfigure the anatomy if treatment is delayed.1 The worldwide incidence for the year 2000 was 93.1 and 77.4 per 100,000 men and women respectively.2 According to the latest statistics, the incidence The CBC in the European population ranges between 77 and 158 per 100,000 inhabitants per year, while in the United States, a figure that ranges between 226 and 362 per 100,000 inhabitants per year is considered.3 In Ecuador, according to the latest Statistics, the cumulative incidence of non-melanoma skin cancer is 16.56 per 100,000 inhabitants, of which basal cell carcinoma occupies first place with 11.82 per 100,000 inhabitants 4. Therefore, in addition to knowing the different therapeutic methods that exist For this type of tumor, it is important to determine the conditioning factors to choose the most appropriate one according to the type of patient and their risk of recurrence based on the chosen treatment., El cáncer de piel es el tumor más común, siendo el carcinoma basocelular el más frecuente. Es un tumor de crecimiento lento que se produce principalmente en la piel fotoexpuesta, con un porcentaje bajo de metástasis. Pero, si no es tratado a tiempo puede llegar ser destructivo e incluso desfigurar la anatomía si el tratamiento se retrasa.1 La incidencia mundial para el año 2000 fue de 93.1 y 77.4 por 100000 hombres y mujeres respectivamente.2 Según las últimas estadísticas la incidencia del CBC en la población europea oscila entre 77 y 158 por 100 000 habitantes por año, mientras en que en Estados Unidos, se considera una cifra que va entre los 226 a 362 por cada 100.000 habitantes por año.3 En Ecuador, según las últimas estadísticas, la incidencia acumulada de cáncer de piel no melanoma es de 16.56 por cada 100.000 habitantes, de los cuales, el carcinoma basocelular ocupa el primer puesto con 11.82 por 100.000 habitantes 4. Por lo tanto, además de conocer los diferentes métodos terapéuticos que existen para este tipo de tumor, es importante determinar los factores condicionantes para elegir el más apropiado de acuerdo con el tipo de paciente y su riesgo de recurrencia en base al tratamiento elegido.

Background: Prevention campaigns for skin cancers have focused primarily on melanoma, and over time there has been increasing awareness of the need to select the population to be screened to maximize program effectiveness. Objectives: The objective of the study was to report the results of a free dermatological initiative, as part of an awareness campaign dedicated to keratinocyte cancers, targeting individuals pre-selected through a short questionnaire. Methods: One day of dermatological consultations was held at 15 dermato-oncology referral centers during May 22-June 30, 2021. For selection, individuals answered a telephone interview consisting of 7 yes/no questions on risk factors. Demographics, clinical characteristics of suspicious tumors, and histopathologic diagnosis of excised lesions were collected. Suspicion rate, detection rate, and positive predictive values (PPVs) for any skin cancer, basal cell carcinoma (BCC), cutaneous squamous cell carcinoma (cSCC), and melanoma were calculated. Results: A total of 320 individuals (56.9% males; 43.1% females) with a median age of 69.6 (range 21-91) years qualified for the screening initiative. Overall, skin cancers and precancerous lesions were diagnosed in 65.9% of the patients. Suspicion rate was 28.7% for any skin cancer (92/320), 22.8% for BCC (73/320), 4.7% for cSCC (15/320), and 1.2% for melanoma (4/320). Detection rate was 23.4% for any skin cancer (PPV 93.7%), 18.1% for BCC (PPV 95.1%), 4.4% for cSCC (PPV 93.3%), and 0.9% for melanoma (PPV 75%). Conclusions: Selection of individuals at high risk is a cost-effective approach for early detection campaigns for keratinocyte cancers.

Background and Objectives: Solid organ transplant recipients (SOTRs) are at increased risk of skin cancer and suffer from greater disease-specific morbidity and mortality. To risk stratify the expanding SOTR population for more targeted skin cancer screening, a detailed understanding of risk factors is needed. Using combined clinical and pathological data to capture prevalence of actinic keratosis (AK) and skin cancer, this study aimed to identify risk factors of skin cancer development in a Danish SOTR cohort. Methods: The trial comprised a retrospective cohort study of patients attending organ transplant clinics at the dermatological departments of Bispebjerg and Gentofte Hospitals in Copenhagen, Denmark, between 2009 and 2021. In addition to pathology records, AK prevalence was determined by review of electronic medical records (EMRs) of SOTR visits which specifically included descriptions of clinical AK. Prevalence of skin cancer, here defined as basal cell carcinoma (BCC), squamous cell carcinoma (SCC) (invasive or in situ), or melanoma (invasive or in situ), was determined by EMR and pathology code review. Additional data extracted from EMRs included age, sex, Fitzpatrick skin type, transplantation date and type, and immunosuppressive therapy. The effect of risk factors on skin cancer was calculated by Cox proportional hazards regression. Results: A total of 822 SOTRs were included with a mean follow-up duration of 10.8 years (SD 2.4 years). A skin dysplasia diagnosis was identified in 30% (n = 250) of the population, consisting of either AK (22%; n = 177), skin cancer (23%; n = 186) or both (14%; n = 113). An AK diagnosis predicted both SCC (odds ratio [OR]: 31.5 [95% CI: 9.8–100.6], p < 0.0001) and BCC development (OR: 2.3 [95% CI: 1.6–3.3], p < 0.0001), with AKs diagnosed an average 3.1 years before the first SCC (p < 0.0001). Correspondingly, while the risk of SCC in SOTRs without AK was 1.4% 25 years after transplantation, SOTRs with AKs had a 23, Background and Objectives: Solid organ transplant recipients (SOTRs) are at increased risk of skin cancer and suffer from greater disease-specific morbidity and mortality. To risk stratify the expanding SOTR population for more targeted skin cancer screening, a detailed understanding of risk factors is needed. Using combined clinical and pathological data to capture prevalence of actinic keratosis (AK) and skin cancer, this study aimed to identify risk factors of skin cancer development in a Danish SOTR cohort. Methods: The trial comprised a retrospective cohort study of patients attending organ transplant clinics at the dermatological departments of Bispebjerg and Gentofte Hospitals in Copenhagen, Denmark, between 2009 and 2021. In addition to pathology records, AK prevalence was determined by review of electronic medical records (EMRs) of SOTR visits which specifically included descriptions of clinical AK. Prevalence of skin cancer, here defined as basal cell carcinoma (BCC), squamous cell carcinoma (SCC) (invasive or in situ), or melanoma (invasive or in situ), was determined by EMR and pathology code review. Additional data extracted from EMRs included age, sex, Fitzpatrick skin type, transplantation date and type, and immunosuppressive therapy. The effect of risk factors on skin cancer was calculated by Cox proportional hazards regression. Results: A total of 822 SOTRs were included with a mean follow-up duration of 10.8 years (SD 2.4 years). A skin dysplasia diagnosis was identified in 30% (n = 250) of the population, consisting of either AK (22%; n = 177), skin cancer (23%; n = 186) or both (14%; n = 113). An AK diagnosis predicted both SCC (odds ratio [OR]: 31.5 [95% CI: 9.8-100.6], p < 0.0001) and BCC development (OR: 2.3 [95% CI: 1.6-3.3], p < 0.0001), with AKs diagnosed an average 3.1 years before the first SCC (p < 0.0001). Correspondingly, while the risk of SCC in SOTRs without AK was 1.4% 25 years after transplantation, SOTRs with AKs had a

Background To minimize the risk of incomplete excision of basal cell carcinomas (BCC) the macroscopic tumor margins should be adequately defined. Optical coherence tomography (OCT) is a non-invasive imaging tool that can provide structural and vascular information about skin cancer lesions. The study objective was to compare the presurgical delineation of facial BCC by clinical examination, histopathology, and OCT imaging in tumors undergoing full excision. Methods Ten patients with BCC lesions on the face were examined clinically, with OCT and histopathology at 3-mm intervals, from the clinical lesion border and beyond the resection line. The OCT scans were evaluated blinded and a delineation estimate of each BCC lesion was made. The results were compared to the clinical and histopathologic results. Results OCT evaluations and histopathology were in agreement in 86.6% of the collected data points. In three cases the OCT scans estimated a reduction of the tumor size compared to the clinical tumor border set by the surgeon. Conclusion The results of this study support the notion that OCT can have a role in the clinical daily practice by aiding clinicians in delineating BCC lesions before surgery., Background: To minimize the risk of incomplete excision of basal cell carcinomas (BCC) the macroscopic tumor margins should be adequately defined. Optical coherence tomography (OCT) is a non-invasive imaging tool that can provide structural and vascular information about skin cancer lesions. The study objective was to compare the presurgical delineation of facial BCC by clinical examination, histopathology, and OCT imaging in tumors undergoing full excision. Methods: Ten patients with BCC lesions on the face were examined clinically, with OCT and histopathology at 3-mm intervals, from the clinical lesion border and beyond the resection line. The OCT scans were evaluated blinded and a delineation estimate of each BCC lesion was made. The results were compared to the clinical and histopathologic results. Results: OCT evaluations and histopathology were in agreement in 86.6% of the collected data points. In three cases the OCT scans estimated a reduction of the tumor size compared to the clinical tumor border set by the surgeon. Conclusion: The results of this study support the notion that OCT can have a role in the clinical daily practice by aiding clinicians in delineating BCC lesions before surgery.

This study aims to optimize the treatment of basal cell carcinoma and basal cell nevus syndrome. Studies show that surgical excision is more effective than imiquimod 5% cream. Nevertheless, imiquimod 5% cream deserves a place in the treatment of nodular basal cell carcinoma. In addition, treatment of basal cell carcinomas with oral hedgehog signaling pathway inhibitors in patients with basal cell nevus syndrome is highly effective but is often associated with too many side effects to sustain long-term treatment. It is also important to obtain genetic confirmation of the diagnosis of basal cell nevus syndrome because the risk of jaw cysts and medulloblastoma differs for patients with a PTCH1 mutation compared with those with a SUFU mutation.

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Basal cell carcinoma (BCC) is the most common malignant tumour in white populations. Multidisciplinary experts from European Association of Dermato-Oncology (EADO), European Dermatology Forum, European Society for Radiotherapy and Oncology (ESTRO), Union Européenne des Médecins Spécialistes, and the European Academy of Dermatology and Venereology developed updated recommendations on diagnosis and treatment of BCC. BCCs were categorised into ‘easy-to-treat’ (common) and ‘difficult-to-treat’ according to the new EADO clinical classification. Diagnosis is based on clinico-dermatoscopic features, although histopathological confirmation is mandatory in equivocal lesions. The first-line treatment of BCC is complete surgery. Micrographically controlled surgery shall be offered in high-risk and recurrent BCC, and BCC located on critical anatomical sites. Topical therapies and destructive approaches can be considered in patients with low-risk superficial BCC. Photodynamic therapy is an effective treatment for superficial and low-risk nodular BCCs. Management of ‘difficult-to-treat’ BCCs should be discussed by a multidisciplinary tumour board. Hedgehog inhibitors (HHIs), vismodegib or sonidegib, should be offered to patients with locally advanced and metastatic BCC. Immunotherapy with anti-PD1 antibodies (cemiplimab) is a second-line treatment in patients with a progression of disease, contraindication, or intolerance to HHI therapy. Radiotherapy represents a valid alternative in patients who are not candidates for or decline surgery, especially elderly patients. Electrochemotherapy may be offered when surgery or radiotherapy is contraindicated. In Gorlin patients, regular skin examinations are required to diagnose and treat BCCs at an early stage. Long-term follow-up is recommended in patients with high-risk BCC, multiple BCCs, and Gorlin syndrome.

Basal cell carcinoma (BCC), the most common type of skin cancer, is characterized by aberrant activation of the hedgehog molecular pathway. Systemic therapy is indicated when local approaches, such as surgery and radiation, are inappropriate. In this article, a group of clinical experts recommends the long-term management strategy for advanced BCC patients treated with systemic therapy. The hedgehog inhibitors sonidegib and vismodegib are first-line treatments for advanced BCC with a long-lasting response, but long-term treatment with hedgehog inhibitors is often challenged by tolerability issues. However, several strategies for adverse effect management are available, such as dose interruptions, on-label alternate-day dosing and supportive medications. In conclusion, although BCC shows a high tumor mutational burden that favors a response to immunotherapy, experts recommend keeping patients on hedgehog inhibitors limiting immunotherapy to those who developed resistance during hedgehog inhibitor therapy or in case of persisting toxicity despite long-term management of adverse events.

This chapter discusses surgical treatment options of non-melanoma skin cancers (NMSCs) and reconstructive methods available in the plastic surgery field to restore the function and esthetic appearance of the different anatomical sites. A precise diagnostic assessment of NMSC and a careful clinical evaluation are essential steps before surgery. This process often guarantees a complete tumor eradication with maximal preservation of normal function and cosmesis avoiding the need for further surgical treatments or adjuvant therapies. After tumor extirpation, it is advisable to suture the wound margins directly together whenever possible. Anyway, cases of complex, large, and deep defects, or the involvement of particular anatomical sites, such as facial units, may require specific reconstructive techniques. This chapter deals with the basic reconstruction techniques of soft tissues using grafts, flaps and Z-plasty, and pearls and pitfalls in facial reconstruction.

Line-field confocal optical coherence tomography (LC-OCT) can help the clinical diagnosis of skin diseases. The present study aimed to evaluate the sensitivity, specificity, and diagnostic accuracy of LC-OCT for the diagnosis of the most frequent non-melanoma skin cancers (NMSCs), i.e. basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). Comparing LC-OCT diagnostic performances with those of dermoscopy, histopathological examination was used as a gold standard. For every study endpoint, the diagnostic ability of LC-OCT revealed superiority over the dermoscopic examination. In particular, a significant increase in specificity was observed. Sensitivity, specificity, and diagnostic accuracy of dermoscopy and LC-OCT for the diagnosis of malignancy were, respectively, 0.97 (CI 0.94–0.99), 0.43 (CI 0.36–0.51), and 0.77 (CI 0.72–0.81) for dermoscopy and 0.99 (CI 0.97–1.00), 0.90 (CI 0.84–0.94), and 0.96 (CI 0.93–0.97) for LC-OCT. The positive predictive value (PPV) resulted in 0.74 (CI 0.69–0.78) for dermoscopy and 0.94 (CI 0.91–0.97) for LC-OCT, and the negative predictive value (NPV) was 0.89 (CI 0.81–0.95) for dermoscopy and 0.98 (CI 0.95–1.00) for LC-OCT. Finally, our real-life study showed a potentially important role of LC-OCT in the non-invasive diagnosis of NMSCs, especially BCC. The real-time imaging technique could spare unnecessary biopsies with an increased sensitivity, a much higher specificity, and better accuracy than clinical assessment with dermoscopy alone., SCOPUS: ar.j, info:eu-repo/semantics/published

Line-field confocal optical coherence tomography (LC-OCT) is a new, noninvasive imaging technique for the diagnosis of skin cancers. A total of 243 benign (54%) and malignant (46%) skin lesions were consecutively enrolled from 27 August 2020, to 6 October 2021 at the Dermatology Department of the University Hospital of Siena, Italy. Dermoscopic- and LC-OCT-based diagnoses were given by an expert dermatologist and compared with the ground truth. Considering all types of malignant skin tumours (79 basal cell carcinomas (BCCs), 22 squamous cell carcinomas, and 10 melanomas), a statistically significant increase (p = 0.013) in specificity was observed from dermoscopy (0.73, CI 0.64–0.81) to LC-OCT (0.87, CI 0.79–0.93) while sensitivity was the same with the two imaging techniques (0.95 CI 0.89–0.98 for dermoscopy and 0.95 CI 0.90–0.99 for LC-OCT). The increase in specificity was mainly driven by the ability of LC-OCT to differentiate BCCs from other diagnoses. In conclusion, our real-life study showed that LC-OCT can play an important role in helping the noninvasive diagnosis of malignant skin neoplasms and especially of BCCs. LC-OCT could be positioned after the dermoscopic examination, to spare useless biopsy of benign lesions without decreasing sensitivity., SCOPUS: ar.j, info:eu-repo/semantics/published

The diagnosis of pilomatricoma, the most common matrical tumor, is generally straightforward; however, it exhibits diverse histology associated with various morphological stages and several clinical variants, and matrical differentiation can occur in various neoplastic diseases. A 56-year-old man was admitted to our hospital to resect an 11.0-cm skin tumor on his right shoulder. Because of its large size and surface irregularities, including multiple erosions and ulcers, cutaneous malignancies were clinically suspected. Histologically, the tumor formed numerous nodules with marked matrical differentiation in the superficial to deep dermis. Although the tumor was macroscopically asymmetrical and irregular, each nodule was microscopically round-shaped and consisted of basaloid cells without marked atypia, atypical mitoses, or lymphovascular invasion. Immunohistochemically, the tumor cells were positive for beta-catenin, LEF-1, and PHLDA-1, consistent with their pilomatrical differentiation. We diagnosed the case as a giant pilomatrical tumor with uncertain malignant potential, considering its "contradictory" features, namely, the worrisome histoarchitecture, such as the asymmetrical silhouette, but bland-looking cytological appearance. Unlike typical pilomatrical tumors, this tumor contained numerous epidermal components with features similar to those of the dermal components, resulting in a unique macroscopic and histological appearance. Our case broadens the known histological diversity of pilomatrical tumors.

Basal Cell Carcinoma (BCC) is the most frequent skin cancer and its increasing incidence is producing a high overload in dermatology services. In this sense, it is convenient to aid physicians in detecting it soon. Thus, in this paper, we propose a tool for the detection of BCC to provide a prioritization in the teledermatology consultation. Firstly, we analyze if a previous segmentation of the lesion improves the ulterior classification of the lesion. Secondly, we analyze three deep neural networks and ensemble architectures to distinguish between BCC and nevus, and BCC and other skin lesions. The best segmentation results are obtained with a SegNet deep neural network. A 98% accuracy for distinguishing BCC from nevus and a 95% accuracy classifying BCC vs. all lesions have been obtained. The proposed algorithm outperforms the winner of the challenge ISIC 2019 in almost all the metrics. Finally, we can conclude that when deep neural networks are used to classify, a previous segmentation of the lesion does not improve the classification results. Likewise, the ensemble of different neural network configurations improves the classification performance compared with individual neural network classifiers. Regarding the segmentation step, supervised deep learning-based methods outperform unsupervised ones

Background/aimIt is estimated that nonmelanoma skin cancer (NMSC), including basal cell carcinoma (BCC) and squamous cell carcinoma (SCC), affects more than 3 million Americans each year. Translation of next-generation sequencing (NGS) data into identification of new potential targets for therapeutic applications may be helpful. Whole-exome sequencing (WES) is a widely used NGS method that involves sequencing the protein-coding regions of the genome.Case reportWe report a case of a 65-year-old female smoker who was found to have two 6 mm lesions in her left nasal vestibule. Biopsies demonstrated synchronous BCC and SCC. The patient underwent surgical excision of both cancers with safe margins followed by plastic reconstruction. WES was performed on both cancers and 16 alterations including BRCA2 (p.P389S), FAM5C (S420L), KMT2A (P855L), and SMO (L412F), as unique for BCC, and 4 alterations including TP53 (p.H179Q) and CDKN2A (p.P114L), as unique for SCC, were identified.ConclusionWe report the first documented case with unique genetic alterations in two distinct and synchronous skin BCC and SCC arising from the same nasal vestibule of a patient. This adds to the growing field of data regarding genetic variants in characterizing malignancies and potentially for targeted therapies.

Systemic treatment with hedgehog inhibitors (HHis) is available to treat basal cell carcinomas but their utility is limited by adverse effects. Topical delivery methods may reduce adverse effects, but successful topical treatment depends on sufficient skin uptake, biological response, and time in tumor tissue. The aim of this review was to evaluate the current status of topical HHi delivery for BCCs and discuss barriers for translating systemic HHis into topical treatments. A literature search identified 16 preclinical studies and 7 clinical trials on the topical delivery of 12 HHis that have been clinically tested on BCCs. Preclinical studies on drug uptake demonstrated that novel formulations, and delivery- and pre-treatment techniques enhanced topical HHi delivery. Murine studies showed that the topical delivery of sonidegib, itraconazole, vitamin D₃ and CUR-61414 led to biological responses and tumor remission. In clinical trials, only topical patidegib and sonidegib led to at least a partial response in 26/86 BCCs and 30/34 patients, respectively. However, histological clearance was not observed in the samples analyzed. In conclusion, the incomplete clinical response could be due to poor HHi uptake, biodistribution or biological response over time. Novel topical delivery techniques may improve HHi delivery, but additional research on cutaneous pharmacokinetics and biological response is needed.

Background Basal cell carcinoma (BCC) is the most common cancer worldwide. Most of BCCs can be detected in the early stages and are generally well controlled with local resection. Despite the high incidence of BCC, metastasis is rarely observed. Metastatic BCCs generally have an aggressive phenotype and are refractory to conventional treatment. Case presentation We describe a rare case of BCC in which a series of local relapses culminated in metastasis into the oral cavity 10 years after the first diagnosis of cutaneous BCC. We performed surgical resection and postoperative radiotherapy in this patient; 11 months after the final course of radiotherapy, the BCC remains stable, and the patient continues to be monitored regularly. Conclusions Because metastatic BCC is refractory to current treatment and difficult to control, his treatment history and the pathohistological features of BCC had to be considered in posttreatment planning.

Background and Objective. Skin cancer is the most common cancer worldwide. One of the most common non-melanoma tumors is basal cell carcinoma (BCC), which accounts for 75% of all skin cancers. There are many benign lesions that can be confused with these types of cancers, leading to unnecessary biopsies. In this paper, a new method to identify the different BCC dermoscopic patterns present in a skin lesion is presented. In addition, this information is applied to classify skin lesions into BCC and non-BCC. Methods. The proposed method combines the information provided by the original dermoscopic image, introduced in a convolutional neural network (CNN), with deep and handcrafted features extracted from color and texture analysis of the image. This color analysis is performed by transforming the image into a uniform color space and into a color appearance model. To demonstrate the validity of the method, a comparison between the classification obtained employing exclusively a CNN with the original image as input and the classification with additional color and texture features is presented. Furthermore, an exhaustive comparison of classification employing different color and texture measures derived from different color spaces is presented. Results. Results show that the classifier with additional color and texture features outperforms a CNN whose input is only the original image. Another important achievement is that a new color cooccurrence matrix, proposed in this paper, improves the results obtained with other texture measures. Finally, sensitivity of 0.99, specificity of 0.94 and accuracy of 0.97 are achieved when lesions are classified into BCC or non-BCC. Conclusions. To the best of our knowledge, this is the first time that a methodology to detect all the possible patterns that can be present in a BCC lesion is proposed. This detection leads to a clinically explainable classification into BCC and non-BCC lesions. In this sense, the classification of the propo

BackgroundThe recent addition of immunotherapy as a treatment modality to surgery and radiation has vastly improved disease control for patients with keratinocyte-derived carcinomas (KCs) that are incurable with local therapies alone. With the advent of immune checkpoint inhibitors (ICPis) in non-melanoma skin cancers comes diagnostic and therapeutic challenges when considering treatment strategies for patients presenting with clinical perineural invasion (cPNI) of locally advanced KC of the head and neck.ObjectivesWe report four cases that convey the diagnostic and therapeutic complexity of managing patients with neuropathic symptoms from cutaneous neurotropic carcinomas of the head and neck. We also discuss an updated review regarding immunotherapies and perineural invasion within KC management.ConclusionPatients presenting with symptoms suspicious for cPNI warrant an expanded diagnostic evaluation to correlate neurological findings with neurotropic spread of disease. While nerve biopsies can be precarious in sensitive areas, a history of skin cancer and clinical presentation suggestive of neurotropism may be enough to pursue timely management in the form of surgery, radiation, and/or systemic therapy given each patient's individual priorities, comorbidities, and prognosis. When adding ICPi as a treatment modality for patients with disease not amenable to local therapies, the potential for immune-related adverse events must be considered. A multi-disciplinary review and approach to the management of patients with KC and cPNI is essential for obtaining optimal patient outcomes.

Basal cell carcinoma (BCC) is the most com-mon cutaneous cancer. This is more common in people with fair skin and areas of chronic sun exposure. BCC is locally invasive, aggressive, and destructive but slow in growing, and there is limi-ted tendency to metastasize. Diagnosis is made by skin biopsy. Depending on the location of the ba-sal cell carcinoma and its histological type, there are several therapeutic alternatives (photodyna-mic therapy, Mohs surgery, radiotherapy or che-motherapy)., El carcinoma basocelular es el tipo más fre-cuente de cáncer cutáneo. Su aparición es más frecuente en personas de piel clara y zonas de ex-posición solar crónica. Este tumor maligno es lo-calmente infiltrante, agresivo y destructivo, pero su capacidad para metastatizar es limitada. El diagnóstico se realiza mediante biopsia cutánea. Según la localización del carcinoma basocelular y su tipo histológico existen varias alternativas te-rapéuticas (terapia fotodinámica, cirugía de Mohs, radioterapia o quimioterapia).

The current trends for most fair-skinned populations are that the incidence of melanoma and non-pigmented skin lesions is growing, and this growing trend will continue for the upcoming years. The emergence of deep learning networks and their promising results in solving real-world healthcare problems and improving diagnostic accuracy opens new possibilities. This thesis consists of the creation of a preliminary deep learning network to classify non-pigmented skin lesions: Basal cell carcinoma, actinic keratosis, and squamous cell carcinoma. This network could be used to provide feedback to the dermatologist regarding the diagnosis of a lesion at Sk ̊anes University Hospital in Lund. We started studying publicly available data sets that could be used to reach our goal. Once we had the data sets that would be used, we proceeded to train the different networks. The networks were trained using transfer learning technology, in which we used existing pre-trained model architectures to train our model. The project was developed in Python using the Keras library that runs under Tensorflow. The results for each of the experiments were compared in terms of performance, and those that obtained the best results were selected. Additionally, we studied the versatility of the models to be used in other data sets that differed from the one used for training, and compared them in terms of accuracy and bias towards certain classes. Finally, the Grad-CAM algorithm was implemented to visualise the hot spot areas on which the model based its predictions for each of the lesions. The final conclusions of the project show promising results that open the possibility of a future real-world implementation of using a deep learning network in a clinic., This master thesis investigates the possibility of using machine learning to classify non-pigmented skin cancer lesions on patients in clinics. The most common non-pigmented types of skin cancer are Basal Cell Carcinoma, Squamous Cell Carcinoma, the last one possibly starting from a lesion called Actinic Keratosis. In Sweden, the number of cases is estimated to grow in the next 20 years. To contain and possibly reverse these trends, more primary and secondary prevention intiatives are required. The Sk ̊ane University Hospital in Lund in collaboration with Lund University has started a project to create an algorithm capable of classifying between the three aforementioned types of lesions. To find a solution using machine learning, a present problem is the lack of sufficient data which in this project was solved by studying the different sources of data available online that could be used. The data sets chosen were based on the availability of the lesions studied in the data set and the proximity of the ethnicity of the skin to the fair skin of Swedes. Furthermore, during 3 weeks more data was collected at Sk ̊ane University Hospital in Lund, and this was used for further network testing. Multiple networks were trained with the different data sets and compared in terms of performance. With the best network of each data set, we tested the versatility of it to be used in a different group of images not used during training. From this study, we obtain poor versatility results that could be explained by the fact that the images from one data set to another varied in terms of which device was used to capture the image and the different skin types. Additionally, we studied the parts of the image in which the network was focussing when making a prediction, to give more feedback to the dermatologist. It was found that the model does not look directly at the lesion but rather looks at the surrounding skin. To conclude, the results of the networks obtained are promising and giv

Background: There is variation in the outcomes reported in clinical studies of basal cell carcinoma. This can prevent effective meta-analyses from answering important clinical questions. Objective: To identify a recommended minimum set of core outcomes for basal cell carcinoma clinical trials. Methods: Patient and professional Delphi process to cull a long list, culminating in a consensus meeting. To be provisionally accepted, outcomes needed to be deemed important (score, 7-9, with 9 being the maximum) by 70% of each stakeholder group. Results: Two hundred thirty-five candidate outcomes identified via a systematic literature review and survey of key stakeholders were reduced to 74 that were rated by 100 health care professionals and patients in 2 Delphi rounds. Twenty-seven outcomes were provisionally accepted. The final core set of 5 agreed-upon outcomes after the consensus meeting included complete response; persistent or serious adverse events; recurrence-free survival; quality of life; and patient satisfaction, including cosmetic outcome. Limitations: English-speaking patients and professionals rated outcomes extracted from English language studies. Conclusion: A core outcome set for basal cell carcinoma has been developed. The use of relevant measures may improve the utility of clinical research and the quality of therapeutic guidance available to clinicians.

Introduction: Skin cancers are more prevalent than all other cancers combined. Basal cell carcinoma (BCC) is the most common skin cancer and melanoma is rarer but more lethal. The main environmental risk factor for skin cancer is ultraviolet radiation (UVR) or sunlight. As anatomic sites of melanoma are correlated with the patterns of UVR exposure, examining trends in melanoma incidence by birth year and anatomic site can help clarify if changes in patterns of sun exposure have contributed to the rise in melanoma incidence. The relationships between BCC and UVR may be akin to those of melanoma and UVR with intermittent sun exposure (indicated by sunburns) as more important exposure patterns. However, the magnitudes of the associations between BCC and sunburn occurring at different stages of the life course are not clearly understood. In order to develop and assess effective public health interventions for skin cancer prevention, there needs to be increased understanding of the risk factors, including assessment and development of valid measures of exposure. The overall goal of this project was to identify research gaps and opportunities for skin cancer prevention and to assess measurement tools for use in future research to address the identified gaps. Methods: First, melanoma birth cohort trends in the United States (U.S.) were stratified by sex and anatomic site of the lesion. Poisson regression was used to estimate incident rates of malignant melanoma diagnosed from 1975-2017 from the Surveillance, Epidemiology, and End Results cancer registries restricted to Whites aged 20-84 at diagnosis. Then, a meta-analysis was conducted to quantify the impact of sunburn at different life stages on BCC risk in the general population and identify any gaps in the literature. A systematic literature search was conducted with data extracted by two independent reviewers using standardized forms. Both dichotomous and dose response meta-analysis were conducted. Finally, inter-metho

Background Despite the widespread use of optical coherence tomography (OCT) for imaging of keratinocyte carcinoma, we lack an expert consensus on the characteristic OCT features of basal cell carcinoma (BCC), an internationally vetted set of OCT terms to describe various BCC subtypes, and an educational needs assessment. Objectives To identify relevant BCC features in OCT images, propose terminology based on inputs from an expert panel and identify content for a BCC-specific curriculum for OCT trainees. Methods Over three rounds, we conducted a Delphi consensus study on BCC features and terminology between March and September 2020. In the first round, experts were asked to propose BCC subtypes discriminable by OCT, provide OCT image features for each proposed BCC subtypes and suggest content for a BCC-specific OCT training curriculum. If agreement on a BCC-OCT feature exceeded 67%, the feature was accepted and included in a final review. In the second round, experts had to re-evaluate features with less than 67% agreement and rank the ten most relevant BCC OCT image features for superficial BCC, nodular BCC and infiltrative and morpheaphorm BCC subtypes. In the final round, experts received the OCT-BCC consensus list for a final review, comments and confirmation. Results The Delphi included six key opinion leaders and 22 experts. Consensus was found on terminology for three OCT BCC image features: (i) hyporeflective areas, (ii) hyperreflective areas and (iii) ovoid structures. Further, the participants ranked the ten most relevant image features for nodular, superficial, infiltrative and morpheaform BCC. The target group and the key components for a curriculum for OCT imaging of BCC have been defined. Conclusion We have established a set of OCT image features for BCC and preferred terminology. A comprehensive curriculum based on the expert suggestions will help implement OCT imaging of BCC in clinical and research settings.

Background Despite the widespread use of optical coherence tomography (OCT) for imaging of keratinocyte carcinoma, we lack an expert consensus on the characteristic OCT features of basal cell carcinoma (BCC), an internationally vetted set of OCT terms to describe various BCC subtypes, and an educational needs assessment. Objectives To identify relevant BCC features in OCT images, propose terminology based on inputs from an expert panel and identify content for a BCC-specific curriculum for OCT trainees. Methods Over three rounds, we conducted a Delphi consensus study on BCC features and terminology between March and September 2020. In the first round, experts were asked to propose BCC subtypes discriminable by OCT, provide OCT image features for each proposed BCC subtypes and suggest content for a BCC-specific OCT training curriculum. If agreement on a BCC-OCT feature exceeded 67%, the feature was accepted and included in a final review. In the second round, experts had to re-evaluate features with less than 67% agreement and rank the ten most relevant BCC OCT image features for superficial BCC, nodular BCC and infiltrative and morpheaphorm BCC subtypes. In the final round, experts received the OCT-BCC consensus list for a final review, comments and confirmation. Results The Delphi included six key opinion leaders and 22 experts. Consensus was found on terminology for three OCT BCC image features: (i) hyporeflective areas, (ii) hyperreflective areas and (iii) ovoid structures. Further, the participants ranked the ten most relevant image features for nodular, superficial, infiltrative and morpheaform BCC. The target group and the key components for a curriculum for OCT imaging of BCC have been defined. Conclusion We have established a set of OCT image features for BCC and preferred terminology. A comprehensive curriculum based on the expert suggestions will help implement OCT imaging of BCC in clinical and research settings.

In the context of the SARS-CoV-2 pandemic, it is important to ensure the quality of cancer treatment as well as patients and health professionals' safety. Individual-based treatment options should be considered in patients with advanced epithelial skin cancer, who are typically elderly and frail. Aim of this study was to assess feasibility and safety of Contact Skin Radiation Therapy (CSRT) to treat basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) during SARS-CoV-2 pandemic. Patients with advanced and difficult-to-treat BCC or SCC were discussed at skin multidisciplinary tumor board (S-MDTB) from February the 21st to May the 4th (phase 1 Italian Pandemic) and retrospectively analyzed. Patient's triage following internal recommendations was daily performed. CSRT was delivered in 8 fractions of 5 Gy each, twice a day. Beyond the clinical outcomes, treatment success indicators, such as the completion of CSRT without SARS-CoV-2 occurrence, were identified to evaluate the feasibility of CSRT during pandemic. A post-treatment psychological assessment regarding patient's safety perception was performed. Six male patients (median age 80 years; range 62–92) with histologically confirmed BCC or SCC were treated with CSRT. Complete clinical remission was achieved in 5/6 patients (83.4%). No high-grade acute toxicities occurred during treatment. No patients or healthcare personnel developed SARS-CoV-2 infection. All the treatment success indicators were achieved. CSRT represents a safe, and feasible treatment option even during the pandemic emergency period. Hypofractionation could be an option to reduce total number of fractions and, consequently, infective risk exposition.

Non-melanoma skin cancer, and basal cell carcinoma in particular, is one of the most common types of cancer. Although this type of malignancy has lower metastatic rates than other types of skin cancer, its locally destructive nature and the advantages of its timely treatment make early detection vital. The combination of multispectral imaging and artificial intelligence has arisen as a powerful tool for the detection and classification of skin cancer in a non-invasive manner. The present study uses hyperspectral images to discern between healthy and basal cell carcinoma hyperspectral signatures. Upon the combined use of convolutional neural networks, with a final support vector machine activation layer, the present study reaches up to 90% accuracy, with an area under the receiver operating characteristic curve being calculated at 0.9 as well. While the results are promising, future research should build upon a dataset with a larger number of patients.

Basal cell carcinoma (BCC) is driven by overactivation of the Hedgehog signaling pathway whose current FDA-approved chemical inhibitors can efficiently suppress protein receptor Smoothened (SMOi) but have presented serious resistance problems in clinical settings. In SMOi-resistant BCCs, we documented an important correlation between the increase in mRNA level of the constitutively active isoform of atypical protein kinase C (aPKC-K) and the surge in mutational load of ciliary proteins. We demonstrated, for the first time, that aPKC protein expression was upregulated upon cilia loss and that chemical inhibition of aPKC increased both percent ciliation and cilia shaft length, both in cells and BCC mice. We also found that the Hedgehog pathway activity (a) was significantly diminished when ciliogenesis was disrupted by transient knockdown of important ciliary genes and (b) was adequately rescued when aPKC-K was simultaneously overexpressed. At the same time, cells that overexpressed aPKC-K displayed resistance to Vismodegib, a widely prescribed SMOi. We also recorded higher aPKC protein expression and lower ciliogenesis in human superficial BCC subtype in comparison to nodular BCC subtype, suggesting a connection between the interfollicular epidermal origin of superficial BCCs and the SMOi-resistance tendency, presumably via aPKC overactivation coupled with cilia loss. In a second project, we detailed the functional effects of phosphorylation by protein kinase A (PKA) at individual and combinatorial PKA-specific phosphosites on GLI1. Artificial loss of PKA-phosphorylation promoted growth in murine BCC cells and allografts; whereas overexpression of clinical mutations found in resistant BCCs near the PKA-sites on GLI1 altered GLI1 activity, localization, and stability. We also described, for the first time, a truncated protein product of GLI1 when PKA-phosphorylation was mimicked. These findings challenged the currently accepted notion that GLI1 could only be completel

Basaloid follicular hamartoma (BFH) is a rare follicular hamartoma of benign nature, which should be part of the differential diagnoses of basal cell carcinoma. Familial multiple BFH (FMBFH) is a hereditary subtype which typically presents early in life with multiple small, skin-colored papules primarily on the central face. Although these lesions are usually asymptomatic, they can be cosmetically disfiguring. Treatment options include surgery, cryotherapy, CO2 laser and imiquimod; no standard of care has been determined. We present a case of FMBFH presenting in adulthood, which was treated with CO2 laser with satisfactory results.

Reducing unnecessary follow-up visits after low-risk basal cell carcinoma. From identification, to exploration by means of quantitative research. After quantification of these results, a personalized letter for patients was determined the best strategy to reduce the unnecessary care. This was tested in practice and resulted in a decrease in the number of control visits.

We present an 81-year-old man who presented for evaluation of an indurated plaque with an exophytic, pearly, skin-red-brown colored nodule with central ulceration on his chest that evolved over the course of several months and was initially suspected to be basal cell carcinoma. Biopsy demonstrated histological features of dermal spindle cell proliferation in a storiform fashion with CD34 positivity confirming a diagnosis of dermatofibrosarcoma protuberans (DFSP). Dermatofibrosarcoma protuberans are rare, slowly progressive soft tissue sarcomas. The rate of DFSP is greatest among African Americans (8.3/1,000,000), occurring nearly twice as frequently when compared to Caucasians. Aside from race/ethnicity, age, and skin trauma, no specific risk factors are associated with DFSP. Complete excision is curative. Given its pearly skin colored appearance, papular/nodular/atrophic morphology variants, and tendency to form indurated plaques, DFSP may be mistaken for nodular and morpheaform basal cell carcinoma subtypes, as well as a variety of other conditions. This case highlights the importance of maintaining DFSP on the differential diagnosis of slowly progressive nodules and indurated plaques, especially in African Americans.

BACKGROUND: Metastatic basal cell carcinoma (mBCC) is a very rare entity, and diagnosis can be challenging. Therapeutic options are limited, and response to targeted therapy is poor.OBJECTIVE: To demonstrate a clonal relationship between BCCs and their metastases and to explore which hedgehog pathway-related mutations are involved in mBCC.METHODS: Genetic analysis was conducted in 10 primary BCCs and their metastases. Genes relevant for BCC development were analyzed in tumor and metastasis material with small molecule molecular inversion probes (smMIPs) for PTCH1, PTCH2, SMO, SUFU, GLI2, and TP53 or with targeted next generation sequencing of the same genes and CDKN2A, CDKN2B, CIC, DAXX, DDX3X, FUBP1, NF1, NF2, PTEN, SETD2, TRAF7, and the TERT promoter.RESULTS: In 8 of 10 patients, identical gene mutations could be demonstrated in the primary tumors and their metastases. A broad spectrum of mutations was found. Four patients had SMO mutations in their tumor or metastasis, or both. All SMO mutations found were known to cause resistance to targeted therapy with vismodegib.LIMITATIONS: In 2 patients there was insufficient qualitative DNA available for genetic analysis.CONCLUSIONS: Molecular testing can help to identify the origin of a BCC metastasis and may be of prognostic and therapeutic value.

Immune checkpoint therapies such as PD-1 blockade have vastly improved the treatment of numerous cancers, including basal cell carcinoma (BCC). However, patients afflicted with pancreatic ductal carcinoma (PDAC), one of the deadliest malignancies, overwhelmingly exhibit negative responses to checkpoint therapy. We sought to combine data analysis and machine learning to differentiate the putative mechanisms of BCC and PDAC non-response. We discover that increased MHC-I expression in malignant cells and suppression of MHC and PD-1/PD-L expression in CD8+ T cells is associated with nonresponse to treatment. Furthermore, we leverage machine learning to predict response to PD-1 blockade on a cellular level. We confirm divergent resistance mechanisms between BCC, PDAC, and melanoma and highlight the potential for rapid and affordable testing of gene expression in BCC patients to accurately predict response to checkpoint therapies. Our findings present an optimistic outlook for the use of quantitative cross-cancer analyses in characterizing immune responses and predicting immunotherapy outcomes.

BACKGROUND: The clinical differentiation of face and scalp lesions (FSLs) is challenging even for trained dermatologists. Studies comparing the diagnostic performance of a convolutional neural network (CNN) with dermatologists in FSL are lacking. METHODS: A market-approved CNN (Moleanalyzer-Pro, FotoFinder Systems) was used for binary classifications of 100 dermoscopic images of FSL. The same lesions were used in a two-level reader study including 64 dermatologists (level I: dermoscopy only; level II: dermoscopy, clinical close-up images, textual information). Primary endpoints were the CNN's sensitivity and specificity in comparison with the dermatologists' management decisions in level II. Generalizability of the CNN results was tested by using four additional external data sets. RESULTS: The CNN's sensitivity, specificity and ROC AUC were 96.2% [87.0%-98.9%], 68.8% [54.7%-80.1%] and 0.929 [0.880-0.978], respectively. In level II, the dermatologists' management decisions showed a mean sensitivity of 84.2% [82.2%-86.2%] and specificity of 69.4% [66.0%-72.8%]. When fixing the CNN's specificity at the dermatologists' mean specificity (69.4%), the CNN's sensitivity (96.2% [87.0%-98.9%]) was significantly higher than that of dermatologists (84.2% [82.2%-86.2%]; p < 0.001). Dermatologists of all training levels were outperformed by the CNN (all p < 0.001). In confirmation, the CNN's accuracy (83.0%) was significantly higher than dermatologists' accuracies in level II management decisions (all p < 0.001). The CNN's performance was largely confirmed in three additional external data sets but particularly showed a reduced specificity in one Australian data set including FSL on severely sun-damaged skin. CONCLUSIONS: When applied as an assistant system, the CNN's higher sensitivity at an equivalent specificity may result in an improved early detection of face and scalp skin cancers.

Skin cancers are one of the most frequently occurring diseases in humans that pose severe health issues. Fourier Transform Infrared (FTIR) spectroscopy in cancer research has gained considerable attention because of its ability to provide biochemical information in addition to being compatible with traditional histopathology. With this review, we aim to identify all skin cancer studies which have been conducted using FTIR spectroscopy and depict different methodologies that have been used to analyze FTIR spectroscopic data of skin cancers. We conducted the systematic review following PRISMA guidelines for which three databases, Scopus, PubMed and Web of Science, were searched from commencement to 16 January 2019. All the studies which used FTIR spectroscopy for skin cancer research were included in the review. A total of 35 studies were found eligible to be included in the review. Of these, 21 studies were based on melanoma, 6 studies on BCC, 2 studies on SCC, and 2 on lymphocytes. The remaining 4 studies aimed to differentiate between various skin cancer types. The potential of FTIR spectroscopy for many relevant aspects of skin cancer research has already been demonstrated, but more work is needed to establish FTIR spectroscopy as a routine method in the field.

Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant condition that occurs due to mutations in the CYLD gene, which functions as a tumor suppressor gene. The case of a 50-year-old woman with a history of characteristic trichoepitheliomas predominantly in the nose, glabella and chin that began at 14 years of age is presented. She reports an increase in the size of the nasal ala lesions for the past 5 years, and the appearance of a new lesion in the nasal tip 2 years ago. When performing a clinical and histological correlation, associated with family history in both the mother and brother, it was concluded that the diagnosis was compatible with multiple familial trichoepithelioma, a special variant of BSS, associated in this case with basal cell carcinoma, that although not a common finding, has been seen to coexist in this disease. The diagnosis of BSS requires a clinical and histological correlation, and a close clinical follow-up must be performed to detect changes in the skin lesions that may indicate malignant transformation., El síndrome de Brooke-Spiegler (SBS) es una entidad rara, autosómica dominante, que ocurre por mutaciones del gen CYLD, el cual funciona como supresor de tumores. Se presenta el caso de una mujer de 50 años de edad, con historia de aparición de lesiones características de tricoepiteliomas que predominaban en nariz, región interciliar y mentón, que iniciaron desde los 14 años de edad. Desde hace 5 años refiere aumento del tamaño de lesiones en alas nasales, y una lesión en punta nasal de 2 años de evolución. Al realizarse una correlación clínica e histológica, asociada a los antecedentes familiares de la madre y hermano de la paciente, se concluyó que el cuadro clínico era compatible con tricoepitelioma múltiple familiar, una variante especial del SBS, en este caso asociado a carcinoma basocelular, que aunque no es un hallazgo común, se ha visto que se puede presentar en esta enfermedad. El diagnóstico preciso de SBS requiere de una correlación clínico-histológica, y se debe hacer un seguimiento clínico cercano para detectar cambios en las lesiones en piel, que puedan indicar una transformación maligna.

Introduction: Gorlin-Goltz syndrome (GGS), or basal cell nevus syndrome (BCNS), is a rare genetic disease that induces the development of odontogenic keratocysts, skeletal malformations and neoplasms, especially multiple and recurrent basal cell carcinomas (BCC). This condition is rare in black people, being reported in this population in only 5% of the cases. Case presentation: A 68-year-old black man reported the constant appearance for approximately 4 years of multiple papules and non-pruritic and non-desquamating skin plaques, with hyperpigmented margins, of different sizes that grew gradually in scalp, left lower eyelid, arms, forearms, back, and lower limbs. Histopathological study showed multiple BCC, and imaging studies identified calcifications in the tentorium cerebelli and cerebral falx, as well as images suggestive of odontogenic cysts. Based on his clinical history, histopathologic and imaging findings, and physical examination, he was diagnosed with GGS. Conclusions: This is the first case of GGS in an older black adult reported in Colombia. This case highlights the relevance of reviewing the medical records and performing a thorough physical examination when approaching the patient, as well as doing a comprehensive geriatric assessment, since they are key to diagnose this rare disease and initiate a timely multidisciplinary treatment. This will allow obtaining better outcomes in these patients., Introducción. El síndrome de Gorlin-Goltz (SGG), o síndrome del nevo basocelular, es una enfermedad genética rara que induce el desarrollo de queratoquistes odontogénicos, malformaciones esqueléticas y neoplasias, especialmente carcinomas basocelulares (CBC) múltiples y recurrentes. Esta condición es infrecuente en personas de raza negra, reportándose en esta población solo en el 5% de los casos. Presentación del caso. Hombre de 68 años de raza negra, quien reportó la constante aparición, durante aproximadamente 4 años, de múltiples pápulas y placas no pruriginosas ni descamativas, de bordes hiperpigmentados, de diferentes dimensiones y de crecimiento gradual en cuero cabelludo, párpado inferior izquierdo, brazos, antebrazos, dorso y miembros inferiores. El estudio histopatológico evidenció múltiples CBC y en los estudios de imagen se identificaron calcificaciones en el tentorium cerebelli y la hoz del cerebro, así como imágenes sugestivas de quistes odontogénicos. Teniendo en cuenta la historia clínica, los hallazgos histopatológicos e imagenológicos y el examen físico, se diagnosticó con SGG. Conclusiones. Este el primer caso de SGG en un adulto mayor de raza negra reportado en Colombia. En este caso se resalta la importancia de la revisión de la historia clínica y el examen físico al momento de abordar un paciente, así como de una valoración geriátrica integral, ya que son fundamentales para diagnosticar esta rara enfermedad y poder iniciar un manejo multidisciplinario temprano, lo que permitirá obtener mejores resultados en estos pacientes.