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CRTC1::TRIM11 cutaneous tumor (CTCT) is a rare skin tumor of uncertain differentiation. In the 49 reported cases, only four cases showed regional or distant metastasis, but follow-up remains limited. Herein, we present a case of metastatic CTCT with ulceration, a histological feature that has not been previously described. A 75-year-old male with a 2-month history of toe ulceration underwent a shave biopsy, which showed a dermal nodular neoplasm that was immunoreactive for SOX10 and S100, negative for Melan-A, and was initially diagnosed as melanoma. Upon pathology review at our institution, the tumor was composed of intersecting fascicles and nests of epithelioid and spindle cells. Additional immunohistochemistry revealed immunoreactivity of the tumor for MiTF and NTRK and negativity for HMB-45 and PRAME. Next-generation sequencing identified CRTC1::TRIM11 fusion, leading to a revised diagnosis of CTCT. The patient proceeded to a toe amputation and sentinel lymph node (SLN) biopsy 5 months after the shave biopsy. The amputation showed residual CTCT and a focus on lymphovascular invasion. The SLN revealed multifocal subcapsular metastases. The patient was started on adjuvant nivolumab and showed biopsy-proven recurrence in the right inguinal lymph nodes and imaging findings suspicious for pulmonary metastases 8 months after the excision. In summary, we present a case of CTCT with ulceration and lymphovascular invasion. We also provide additional evidence that a subset of CTCT behaves aggressively. The optimal surgical and medical treatments are unknown.
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Primary cutaneous SMARCA4-deficient undifferentiated malignant neoplasm (SD-UMN) is a rare and recently described entity characterized by the loss of expression of the SMARCA4 (BRG1) protein, which is involved in chromatin remodeling. SD-UMN presents a diagnostic challenge due to its rarity and unique histopathological and immunohistochemical features. In this report, we present a case of primary cutaneous SD-UMN in a 67-year-old man who presented with a rapidly growing, ulcerated, and bleeding nodule on his right cheek. Histopathological examination revealed a highly cellular dermal tumor consisting of pleomorphic epithelioid cells with prominent mitotic figures and necrosis, lacking any morphological evidence of differentiation. Immunohistochemical analysis showed a complete loss of SMARCA4 and SMARCA2 expression, while INI-1 expression remained intact. p53 was diffusely expressed, and p16 was completely absent. In addition, a range of markers, including high-molecular-weight cytokeratin, p63, SOX10, INSM1, MCPyV, NKX2.2, CD99, CDX2, CD56, ERG, NUT, desmin, androgen receptor, chromogranin, CD34, and CD43 were all negative. To date, only two cases of primary cutaneous SMARCA4-deficient undifferentiated tumors have been reported in the literature. Therefore, this case report adds to the limited body of knowledge on the clinical and histopathological features of this novel entity. The report highlights the importance of considering SD-UMN in the differential diagnosis of undifferentiated cutaneous tumors.
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Carcinoma , Sarcoma , Masculino , Humanos , Anciano , Sarcoma/patología , Carcinoma/patología , Biomarcadores de Tumor/análisis , ADN Helicasas , Proteínas Nucleares , Factores de Transcripción , Proteínas RepresorasRESUMEN
Malignant melanoma is an aggressive neoplasm primarily involving the skin. They may arise de novo or from a premalignant melanocytic lesion. Melanomas are primarily known to occur in adults. Pediatric melanomas (PM) are rare and predominantly occur de novo following ultraviolet deoxyribonucleic acid (DNA) damage. They may also be associated with the presence of congenital melanocytic nevi. We report a rare case of a 6-year-old child with multiple melanocytic nevi subsequently diagnosed with melanoma of the back and metastatic disease.
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Melanocytic neoplasms originate from melanocytes and melanoma, the malignant form, is a common canine neoplasm and the most aggressive human skin cancer. Despite many similarities between these neoplasms in both species, only a limited number of studies have approached these entities in a comparative manner. Therefore, this review compares benign and malignant melanocytic neoplasms in dogs and humans, exclusively those arising in the haired skin, with regard to their clinicopathological, immunohistochemical and molecular aspects. Shared features include spontaneous occurrence, macroscopic features and microscopic findings when comparing human skin melanoma in the advanced/invasive stage and canine cutaneous melanoma, immunohistochemical markers and several histopathological prognostic factors. Differences include the apparent absence of active mutations in the BRAF gene in canine cutaneous melanoma and less aggressive clinical behaviour in dogs than in humans. Further studies are required to elucidate the aetiology and genetic development pathways of canine cutaneous melanocytic neoplasms. Evaluation of the applicability of histopathological prognostic parameters commonly used in humans for dogs are also needed. The similarities between the species and the recent findings regarding genetic mutations in canine cutaneous melanomas suggest the potential utility of dogs as a natural model for human melanomas that are not related to ultraviolet radiation.
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Enfermedades de los Perros , Inmunohistoquímica , Melanoma , Neoplasias Cutáneas , Perros , Neoplasias Cutáneas/veterinaria , Neoplasias Cutáneas/patología , Animales , Enfermedades de los Perros/patología , Melanoma/veterinaria , Melanoma/patología , Humanos , Biomarcadores de Tumor , Melanoma Cutáneo MalignoRESUMEN
BACKGROUND: Atypical Spitz tumor (AST) is an intermediate category among Spitz melanocytic neoplasms. Sentinel node biopsy (SNB) has been proposed in the clinical management of AST patients, but this approach remains the subject of debate. This systematic review aims to summarize the available evidence on SNB procedures in AST patients. METHODS: A comprehensive search was conducted, including MEDLINE/Pubmed, EMBASE, and SCOPUS, through April 2023. Case series, cohort studies, and case-control studies of AST patients were eligible for inclusion. PRISMA guidelines were followed. RESULTS: Twenty-two studies with a total of 756 AST patients were included. The pooled SNB prevalence was 54% (95% CI 32 to 75%), with substantial heterogeneity (I2 90%). The pooled SNB+ prevalence was 35% (95% CI 25 to 46%) with moderate heterogeneity (I2 39%). Lymphadenectomy was performed in 0-100% of SNB+ patients. Overall survival rates ranged from 93% to 100%, and disease-free survival ranged from 87% to 100% in AST patients. Overall and disease-free survival rates were 100% in SNB patients. Pooled survival estimates were not calculated due to the heterogeneous timing of the survival assessment and/or the small size of the subgroups. All studies clearly reported inclusion criteria and measured the condition in a standard way for all participants, but only 50% indicated valid methods for the identification of the condition. CONCLUSIONS: The oncologic behavior of AST is related to an almost always favorable outcome. SNB does not seem to be relevant as a staging or prognostic procedure, and its indication remains debatable and controversial.
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Background: Australia is known for its outdoor culture, with a large percentage of its population engaging in outdoor recreational activities, aquatic, non-aquatic and outdoor occupational activities. However, these outdoor enthusiasts face increased exposure to ultraviolet radiation (UVR), leading to a higher risk of skin cancer, including malignant melanoma (MM). Over the past 40 years, there has been a significant rise in skin cancer rates in Australia, with two out of three Australians expected to develop some form of skin cancer by age 70. Currently, skin cancer examinations are not endorsed in asymptomatic or low-risk individuals in Australia, with only high-risk individuals recommended to undergo regular skin examinations. Notably, the Melanoma Institute Australia suggests that one-half of patients identify MMs themselves, although this claim appears to be based on limited Australian data which may not reflect contemporary practice. Therefore this study sought to determine the percentage of patients who were able to self-identify MMs as lesions of concern when presenting for a skin cancer examination. Methods: Multi-site, cross-sectional study design incorporating a descriptive survey and total body skin cancer screening, including artificial intelligence by a skin cancer doctor. Results: A total of 260 participants with suspect MM lesions were biopsied, with 83 (31.9%) found to be melanomas. Of the true positive MMs only a small percentage of participants (21.7% specificity) correctly had concerns about the suspect lesion being a MM. These MMs were located primarily on the back (44.4%), shoulder (11.1%) and upper leg (11.1%). There was no significant difference in the size between those participants aware of a MM versus those who were not (P = 0.824, 24.6 vs 23.4 mm2). Significantly more males identified lesions of concern that were MMs as compared to females (P = 0.008, 61.1% vs 38.9%, respectively). With regard to true negatives males and females were similar (52.1% vs 47.9%, respectively). With regard to false negatives (n = 65), a greater percentage of males than females did not recognize the MM as a lesion of concern (66.2% vs 33.8%, respectively). Participants were more likely to correctly identify an invasive MM as opposed to an in situ MM (27.3% versus 21.3%). Conclusions: Only a small percentage of participants in this study were able to self-identify either in situ or invasive MM as a lesion of concern with a tendency to identify the more advanced, thicker MMs. Given that MM is associated with a high mortality and cost of treatment, particularly when invasive, the inability of lay persons to identify these cancerous lesions will likely lead to delayed treatment and a possible adverse outcome. We believe the current melanoma screening practices in Australian general practice should be revisited to improve patient outcomes with regard to MM. Additionally, prevention campaigns should include images and primary risk factors for MM.
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Detección Precoz del Cáncer , Melanoma , Neoplasias Cutáneas , Humanos , Melanoma/epidemiología , Melanoma/patología , Melanoma/diagnóstico , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , Femenino , Masculino , Australia/epidemiología , Persona de Mediana Edad , Estudios Transversales , Anciano , Adulto , Detección Precoz del Cáncer/métodos , Autoexamen , Anciano de 80 o más Años , Conocimientos, Actitudes y Práctica en SaludRESUMEN
Schwannoma, also known as neurilemmoma, is a benign neoplasm of Schwann cells of the cranial or peripheral nerve sheath. Scalp involvement has been reported in 25% of patients with extracranial head and neck schwannomas, which can be misdiagnosed clinically as epidermal cyst or lipoma. In this article, we report a 32-year-old male presenting with a slow-growing painful subcutaneous mass on the left occipital scalps without any neurological symptoms. Pathological findings confirmed the diagnosis of schwannoma, and surgical removal resulted in the resolution of pain and lack of recurrence.
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Abstract Since its first introduction into medical practice, reflectance confocal microscopy (RCM) has been a valuable non-invasive diagnostic tool for the assessment of benign and malignant neoplasms of the skin. It has also been used as an adjunct for diagnosing equivocal cutaneous neoplasms that lack characteristic clinical or dermoscopic features. The use of RCM has led to a decreased number of biopsies of benign lesions. Multiple published studies show a strong correlation between RCM and histopathology thereby creating a bridge between clinical aspects, dermoscopy, and histopathology. Dermatopathologists may potentially play an important role in the interpretation of confocal images, by their ability to correlate histopathologic findings. RCM has also been shown to be an important adjunct to delineating tumoral margins during surgery, as well as for monitoring the non-surgical treatment of skin cancers. Advanced technology with smaller probes, such as the VivaScope 3000, has allowed access to lesions in previously inaccessible anatomic locations. This review explains the technical principles of RCM and describes the most common RCM features of normal skin with their corresponding histological correlation.
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Introdução: O carcinoma basocelular é a neoplasia mais comum no mundo. É responsável, juntamente com os demais cânceres de pele, pelo grande aumento dos gastos públicos, quando comparados aos demais tipos de câncer. Este estudo teve como objetivo avaliar o perfil epidemiológico dos laudos histopatológicos de Carcinoma Basocelular (CBC) realizados nos laboratórios de Patologia da cidade de Criciúma/ SC. Métodos: Foi feito um estudo observacional retrospectivo, com coleta de dados secundários e abordagem quantitativa. Foram incluídos no estudo 301 laudos histopatológicos de CBC. Resultados: A média da idade no momento do diagnóstico foi de 64,09 anos. O gênero mais acometido foi o feminino, correspondendo a 55,5% dos laudos da amostra. Dos subtipos histopatológicos, o nodular foi o prevalente (52,2%), seguido pelo esclerodermiforme/infiltrativo (28,2%), superficial (11,3%), micronodular (5,6%), basoescamoso (1,7%) e pigmentado (1,0%). A localização cutânea de maior frequência foi cabeça e pescoço (67,4%), tendo o nariz como principal local das lesões (32,4%). Limitações do estudo: Este estudo teve como limitação a não informação da localização cutânea do CBC em 126 laudos. Conclusão: O CBC é mais comum em indivíduos a partir da sexta década de vida (p=0,017), preferencialmente em mulheres (p=0,013). O subtipo mais encontrado é o nodular seguido do esclerodermiforme. O nariz foi o local de maior acometimento das lesões. O subtipo superficial predominou no sexo feminino (p=0,013). Quanto à sua localização cutânea, o subtipo superficial está associado aos membros superiores e inferiores (p=0,037).
Introduction: Basal cell carcinoma is the most common neoplasm in the world. Along with other skin cancers, it is responsible for a large increase in public spending compared to other types of cancer. This study aimed to evaluate the epidemiological profile of histopathological reports of basal cell carcinoma performed in pathology laboratories in the city of Criciúma, SC, Brazil. Methods: This retrospective observational study was conducted using secondary data and a quantitative approach. A total of 301 histopathological reports of basal cell carcinoma were included. Results: The mean age at diagnosis was 64.09 years, with women being more affected (55.5%). Of the histopathological subtypes, nodular was the most prevalent (52.2%), followed by infiltrative (28.2%), superficial (11.3%), micronodular (5.6%), basosquamous (1.7%) and pigmented (1.0%). The most frequent location was the head and neck (67.4%), with the nose being the main site of lesions (32.4%). Study limitations: The carcinoma location was missing in 126 reports. Conclusion: basal cell carcinoma was more common in individuals ≥ 60 years of age (p=0.017), especially women (p=0.013). The most common subtypes were nodular and infiltrative. The nose was the most affected site. The superficial subtype predominated in women (p=0.013). The superficial subtype was associated with the upper and lower limbs (p=0.037).
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Carcinoma BasocelularRESUMEN
Resumen ANTECEDENTES: El carcinoma de células basales, o basocelular, es la neoplasia cutánea no melanocítica más frecuente en la raza caucásica. La mayor parte de estas neoplasias aparecen en la piel fotoexpuesta (casi el 85% en la cabeza y el cuello). La afectación vulvar tiene una frecuencia no mayor al 1 al 2% de todos los carcinomas basocelulares. OBJETIVO: Reportar un caso de carcinoma basocelular de localización vulvar y revisar la bibliografía de los últimos siete años. CASO CLÍNICO: Paciente de 74 años, sin antecedentes personales de interés, con una lesión vulvar asintomática, con varios meses de evolución. En la exploración genital se encontró, en el labio mayor izquierdo, una lesión de 3 cm, pálida, no ulcerada, sobreelevada y pétrea. La biopsia de la lesión reportó: tejido mamario accesorio. Ante este informe se decidió la exéresis de la lesión y dejar un margen quirúrgico aproximado de 1 cm. La intervención y el posoperatorio transcurrieron sin contratiempos. El estudio anatomopatológico de la pieza quirúrgica reportó que se trataba de un carcinoma ulcerado de células basales, nodular y superficial, con los bordes de resección libres. En el seguimiento posquirúrgico a los dos meses, la paciente se encontró en buenas condiciones, asintomática. CONCLUSIONES: Si bien el carcinoma basocelular es una neoplasia muy frecuente, la afectación vulvar es por demás rara. El diagnóstico y el tratamiento deben ser interdisciplinarios, de la mano de dermatólogos y gineco-oncólogos.
Abstract BACKGROUND: Basal cell carcinoma, or basal cell carcinoma, is the most common nonmelanocytic skin neoplasm in Caucasians. Most of these neoplasms occur on photo exposed skin (almost 85% on the head and neck). Vulvar involvement has a frequency of no more than 1% to 2% of all basal cell carcinomas. OBJECTIVE: To report a case of basal cell carcinoma of vulvar location and to review the literature of recent years. CLINICAL CASE: 74-year-old patient, with no personal history of interest, with an asymptomatic vulvar lesion, with several months of evolution. On genital examination, a 3 cm lesion was found on the left labium majus, pale, non-ulcerated, raised, and stony. The biopsy of the lesion reported: accessory breast tissue. In view of this report, it was decided to excise the lesion and leave a surgical margin of approximately 1 cm. The operation and postoperative period went smoothly. The anatomopathological study of the surgical specimen reported that it was an ulcerated basal cell carcinoma, nodular and superficial, with free resection margins. At two months post-surgical follow-up, the patient was found to be in good condition, asymptomatic. CONCLUSIONS: Although basal cell carcinoma is a very frequent neoplasm, vulvar involvement is very rare. Diagnosis and treatment should be interdisciplinary, with the collaboration of dermatologists and gyneco-oncologists.
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Resumen El carcinoma apocrino primario de glándula sudorípara es una neoplasia con una muy baja incidencia, que puede representar un reto diagnóstico, clínico e histológico, y un reto terapéutico local, adyuvante y de la enfermedad avanzada. La edad media de los pacientes es de alrededor de 67 años, y no se ha observado preferencia según el sexo. Se presenta con mayor frecuencia en las axilas y en el cuero cabelludo. Se caracteriza clínicamente por un lento crecimiento, aunque puede progresar agresivamente, con compromiso local, ganglionar y metastásico, principalmente, pulmonar, hepático y óseo. El tratamiento recomendado -una vez establecida la histología- consiste en una resección local amplia con un margen claro de 1 a 2 cm y linfadenectomía regional si se detectan ganglios clínicamente positivos. El tratamiento adyuvante (radioterapia o quimioterapia) y de la enfermedad avanzada no está claramente establecido. Se presentan dos pacientes de sexo femenino con sospecha inicial de cáncer de mama, en quienes se diagnosticó finalmente un carcinoma apocrino de glándula sudorípara.
Abstract Primary apocrine carcinoma of the sweat gland is a neoplasm with a very low incidence that may represent a clinical and histological diagnostic challenge, as well as for adequate local, adjuvant, and advanced disease management. The average age of patients is around 67 years with no gender preference. This cancer develops primarily at the axillary and scalp levels and is clinically characterized by slow growth, but can progress aggressively with local, nodal, and metastatic involvement (primarily lung, liver, and bone). The recommended management, once the histology is established, consists of a wide local resection with a clear margin of 1 to 2 cm and regional lymphadenectomy if clinically positive nodes are detected. The adjuvant treatment (radiotherapy or chemotherapy) and for the advanced disease is not established. We report here the cases of two female patients initially diagnosed with breast cancer who were finally diagnosed with apocrine carcinoma of the sweat gland.
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Glándulas Apocrinas , Neoplasias de la Mama , Patología , Neoplasias Cutáneas , Informes de CasosRESUMEN
Resumen: Introducción: El tumor de Bednar es un sarcoma de bajo grado, infrecuente, considerado como la variante pigmen tada del dermatofibrosarcoma protuberans (DFSP). Objetivo: describir las características clínicas, histopatológicas, el tratamiento y la evolución de un caso pediátrico de esta infrecuente neoplasia. Caso Clínico: escolar de 9 años que consultó por una pápula indurada asintomática, de dos años de evolución en el dorso del cuarto dedo del pie izquierdo. La biopsia incisional de la lesión fue com patibles con un DFSP pigmentado. El estudio inmunohistoquímico mostró positividad intensa para CD34 en toda la lesión, con factor XIIIa negativo. Se complementó el estudio de la pieza histológica con citogenética molecular FISH para el gen PDGFB (22q13.1) el cual reflejó un patrón anómalo en las células tumorales, no así en los melanocitos ni en la piel peritumoral. Se realizó cirugía micrográfica de Mohs diferida con cobertura mediante sustituto dérmico, sin recidiva ni recurrencia tumoral a los 5 años de seguimiento. Conclusiones: El DFSP pigmentado es un sarcoma de bajo grado, que muy infrecuentemente se presenta en pacientes pediátricos. Las variantes clásica y pigmentada deben ser sospechadas ante una lesión papulonodular única, de crecimiento lento y progresivo, con presencia de células fusiformes con patrón estoriforme en la biopsia y con estudio inmunohistoquímico positi vo para CD34. Es una entidad con buen pronóstico, con escaso riesgo de recurrencia y metástasis, si se logra la realización de una extirpación completa.
Abstract: Introduction: Bednar tumor is a rare low-grade sarcoma considered the pigmented variant of dermatofibrosarco ma protuberans (DFSP). Objective: To describe the clinical and histopathological characteristics, treatment and evolution of this rare neoplasm. Clinical Case: A 9-year old female presented with a 2-year history of an indurated, asymptomatic papule on the back of her fourth left toe. The incisio nal biopsy was compatible with pigmented DFSP. The immunohistochemical study showed intense positivity for CD34 throughout the lesion, with negative factor XIIIa. We complemented the study with molecular cytogenetics (FISH) for PDGFB gene (22q13.1) which showed an abnormal pattern in tumor cells, but not in the melanocytes or the peritumoral skin. Delayed Mohs surgery and skin substitute dressing were performed without neoplastic recurrence at 5 years of follow up. Conclu sion: Pigmented DFSP is a low-grade sarcoma that is very rare in pediatric patients. The classical and pigmented variants should be suspected in the presence of a single papulonodular lesion of slow and progressive growth, with presence of spindle cells with storiform pattern in the biopsy and positive immunohistochemical study for CD34. It is an entity with good prognosis, with little risk of recurren ce and metastasis, if complete excision is achieved.
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Humanos , Femenino , Niño , Neoplasias Cutáneas/diagnóstico , Dermatofibrosarcoma/diagnóstico , Neoplasias Cutáneas/cirugía , Neoplasias Cutáneas/patología , Dermatofibrosarcoma/cirugía , Dermatofibrosarcoma/patologíaRESUMEN
INTRODUCCIÓN: Las metástasis cutáneas (MC) son un fenómeno poco frecuente en pacientes que padecen de cáncer de origen visceral, en mujeres se deben principalmente al cáncer de mama (CDM). Las MC se pueden presentar como manifestación de un cáncer avanzado o como signo de recidiva de un cáncer en remisión. La presentación clínica de un CDM en piel es muy variada, al estar presente es un indicador de enfermedad avanzada y , a su vez, de mal pronóstico, donde la variante clínica nodular es la más representativa. PRESENTACIÓN DEL CASO: Paciente femenina, 58 años. Con historia en 2005 de MC como primera manifestación de CDM. Presentó evolución satisfactoria y regresión de MC posterior a tratamiento con quimioterapia y radioterapia. Se resolvió quirúrgicamente, asociado a terapia hormonal, continuando en control ambulatorio. En 2018 consulta por lesión cutánea en pierna derecha, donde se constató además lesión cutánea mamaria izquierda. Se realizó biopsia de ambas lesiones que informó carcinoma epidermoide in situ en pierna derecha y metástasis dérmica de carcinoma ductal mamario con extensión intraepidérmica en zona mamaria izquierda y cervical ipsilateral. DISCUSIÓN: Las MC generalmente son precedidas por el diagnóstico de tumor mamario, rara vez son primera manifestación de él. De las MC cuya aparición es posterior al hallazgo de CDM, pueden observarse lesiones incluso al cabo de 10 años, lo que ha llevado a afirmar que el riesgo de enfermedad a distancia estará presente durante el resto de la vida. La presencia de MC por CDM implica generalmente amplia diseminación de la enfermedad, por lo tanto tener en cuenta este diagnóstico sería de gran ayuda en cuanto a oportunidad de tratamiento.
INTRODUCTION: Cutaneous metastases (MC) are a rare phenomenon in patients suffering from visceral cancer, in women they are mainly due to breast cancer (CDM). MC can occur as a manifestation of advanced cancer or as a sign of recurrence of a cancer in remission. The clinical presentation of a CDM in skin is very varied, being present is an indicator of advanced disease and, in turn, of poor prognosis, where the nodular clinical variant is the most representative. PRESENTATION OF THE CASE: Female patient, 58 years old. With history in 2005 of MC as the first manifestation of BC. After treatment with chemo and radiotherapy she presented satisfactory evolution and regression of CM. It was resolved later with surgery and hormonal therapy, continuing in ambulatory control. In 2018, the patient complained of a cutaneous lesion in the right leg. Physical exam also revealed a left mammary skin lesion. Biopsy was performed on both lesions. It reported carcinoma in situ in the right leg and dermal metastasis of mammary ductal carcinoma with intraepidermal extension in the left mammary and cervical area. DISCUSSION: CM are generally found after discovering the mammary tumor, they are rarely its first manifestation. As late manifestation of the disease, CM have been reported up to ten years later. The presence of MC by CDM generally implies a broad dissemination of the disease, taking into account this diagnosis could be of great help in terms of an opportunity for treatment.
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Humanos , Femenino , Persona de Mediana Edad , Neoplasias Cutáneas/secundario , Neoplasias de la Mama/patología , Carcinoma de Células Escamosas , Metástasis de la Neoplasia , Neoplasias Cutáneas/patología , PrevalenciaRESUMEN
El Tricoepitelioma Múltiple Familiar (TMF) constituye una rara enfermedad autosómica dominante, se caracteriza por la aparición de múltiples pápulas color piel, monomorfas, simétricas, ubicadas en la región central de la cara. El diagnóstico es histopatológico, donde se encuentran tricoepiteliomas, los cuales son neoplasias anexiales benignas que se originan en los folículos pilosos. La condición es de comportamiento indolente, pero con una importante repercusión estética y de difícil manejo. Al ser esta una entidad poco frecuente, el objetivo de este artículo es actualizar los aspectos más relevantes de esta enfermedad. Se presenta el caso de una paciente de 23 años con lesiones faciales típicas en quien se confirmó el diagnostico de TMF
Familial Multiple Trichoepithelioma (FMT) is a rare autosomal dominant disease, characte-rized by the appearance of multiple papules of skin color, monomorphic, symmetrical and located in the central region of the face. The diagnosis is based on histopathological features of trichoepitheliomas, which are benign adnexal neoplasms that originate in the hair follicles. The condition has an indolent behavior but it has an important aesthetic repercussion and it's difficult to treat. As this is a rare entity, the objective of this article is to update the most relevant aspects of this disease. We present the case of a 23 year old patient with typical facial lesions in whom the diagnosis of FMT was confirmed.
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Humanos , Femenino , Adulto Joven , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/patología , Neoplasias Faciales/genética , Neoplasias Faciales/patologíaRESUMEN
RESUMEN: El carcinoma basocelular (CBC) es el tumor maligno de piel más frecuente (75% - 80%), localizado generalmente en zonas de exposición solar, aunque en algunos casos se presenta en áreas no fotoexpuestas (1%), lo que puede indicar la participación de otros factores etiológicos diferentes a la radiación ultravioleta. El CBC es decrecimiento lento, bajo potencial metastásico, pero localmente invasivo, por lo que es importante realizar un diagnóstico oportuno, conociendo las características clínicas e histológicas de esta entidad. Se presenta el caso de un paciente de 66 años, con una lesión en región plantar izquierda de dos años de evolución, evaluado por el Departamento de Dermatología, quienes confirman el diagnóstico de CBC nodular, mediante la realización de biopsia incisional y posterior resección con márgenes de seguridad de 4 mm. El CBC delocalizaciónplantar, a pesar de ser poco frecuente, debe sospecharse si se presenta una lesión tumoral, de evolución crónica.
SUMMARY Basal Cell Carcinoma (BCC) is the most frequent malignant tumor (75% - 80%), generally located in sun-exposed areas, although some can occur in areas that are not (1 %). The prior indicates that there are other factors involved in its etiology different from UV radiation. BCC is a slow growing tumor with poor metastatic potential but locally invasive, the reason why a prompt diagnosis is required, by knowing thoroughly its clinical and histopathological features. We present the case of a sixty-six-year-old male patient referred to the dermatology department, with a two-year evolution lesion in the plantar surface of his left foot. Diagnosis of nodular BCC is done through incisional biopsy and posterior resection is performed with a 4 mm safety margin. Although plantar BCC is infrequent, it should always be suspected when finding a chronic tumoral lesion in this area.
RESUMEN
El Pilomatrixoma es un tumor anexial benigno. Presenta una variante histopatológica infrecuente denominada pilomatrixoma proliferante reportada en 1997 por Kaddu et al. Corresponde a una lesión compuesta predominantemente por una proliferación lobular de células basaloides, con atipia nuclear variable y figuras mitóticas, áreas focales que contienen material cornificado eosinófilo, junto con células sombra. Se propuso al pilomatrixoma proliferante como un subconjunto histopatológico distintivo del pilomatrixoma y se consideró como una variante proliferativa con un perfil histopatológico benigno. La dermatoscopía en este tumor, sobre todo en pacientes de edad avanzada, puede llegar a constituir una trampa dermatoscópica, que es difícil de diferenciar de otras lesiones, como el melanoma o el carcinoma de células basales. Existen múltiples reportes de casos en la literatura donde se informa de pilomatrixomas clásicos o proliferantes simulando otras neoplasias. Presentamos el caso de una paciente de 88 años con pilomatrixoma proliferante facial que simuló clínicamente un carcinoma de células escamosas y llevó a confusión diagnóstica inicial, se destacan las características histopatológicas y clínicas de los pilomatrixomas proliferantes.
Pilomatrixoma is a benign adnexal tumor. It has an infrequent histopathological variant called proliferating pilomatrixoma reported in 1997 by Kaddu et al. It corresponds to a lesion composed predominantly by a lobular proliferation of basaloid cells, with variable nuclear atypia and mitotic figures, focal areas containing eosinophilic cornified material, together with shadow cells. The proliferating pilomatrixoma was proposed as a distinctive histopathological subset of the pilomatrixoma and was considered as a proliferative variant with a benign histopathological profile. Dermatoscopy in this tumor, especially in elderly patients, can result in a dermatoscopic trap, which makes it difficult to differentiate from other lesions, such as melanoma or basal cell carcinoma. There are multiple reports of cases in the literature where classic or proliferating pilomatrixomas were reported simulating other neoplasms. We present the case of an 88-year-old patient with a proliferating facial pilomatrixoma that clinically simulated a squamous cell carcinoma and led to an initial diagnostic confusion, highlighting the histopathological and clinical characteristics of the proliferating pilomatrixoma.
Asunto(s)
Humanos , Masculino , Anciano de 80 o más Años , Neoplasias Cutáneas/diagnóstico , Carcinoma de Células Escamosas/diagnóstico , Pilomatrixoma/diagnóstico , Enfermedades del Cabello/diagnóstico , Neoplasias Cutáneas/patología , Nariz , Pilomatrixoma/patología , Neoplasias de Células Escamosas/patología , Dermoscopía , Diagnóstico Diferencial , Enfermedades del Cabello/patologíaRESUMEN
Se presenta el caso de un hombre de 75 años de edad, de piel negra y con antecedentes de salud hasta hace dos años en que sufre caída y recibe un trauma en la región sacra, donde apareció una lesión pequeña e indolora, la cual meses después aumentó de tamaño. El paciente fue atendido en varios centros asistenciales con el diagnóstico de exulceración traumática. Recibió diversos tratamientos sin mejoría. En el Hospital Militar de Santiago de Cuba se le realizó biopsia de piel cuyo resultado fue carcinoma epidermoide. Constituyó un caso poco frecuente por las características clínicas y la localización de la lesión(AU)
The case of a 75-year-old black man with a health history is presented in this paper. Two years ago he suffered a fall and was injured traumatized in the sacral region, with a small, painless lesion, which increased in size months later. This patient was treated in several care centers with the diagnosis of traumatic exulceration. He received various treatments with no improvement. A skin biopsy was performed at Santiago de Cuba Military Hospital, the result was epidermoid carcinoma. It was a rare case due to the clinical characteristics and location of the lesion(AU)
Asunto(s)
Humanos , Masculino , Anciano , Neoplasias Cutáneas/mortalidad , Carcinoma de Células Escamosas/diagnósticoRESUMEN
We describe a case of plantar interdigital cutaneous melanoma in a 22-year-old woman who reported changes in a pigmented lesion during pregnancy. Diagnosis was late and evolution unfavourable. The purpose of this report is to draw the attention of dermatologists to the need for careful regular examination of melanocytic lesions in pregnant women, not ignoring possible changes as always physiological.
Asunto(s)
Femenino , Humanos , Embarazo , Adulto Joven , Enfermedades del Pie/patología , Melanoma/patología , Complicaciones Neoplásicas del Embarazo/patología , Neoplasias Cutáneas/patología , Biopsia , Dermoscopía , Resultado Fatal , Piel/patología , Dedos del PieRESUMEN
RESUMEN Objetivo Describir y comprender de forma integral las experiencias que han vivido personas con cáncer de piel no melanoma en su lucha por recuperar la salud, descifrando el itinerario que recorren en busca de atención, describiendo las relaciones con el sistema de salud, estableciendo la tasa de tutelas y el porcentaje de servicios negados, y documentando los determinantes relacionados con el diagnóstico oportuno. Métodos Se realizó un estudio con metodología mixta desde la perspectiva combinada de la epidemiología y la antropología médica critica. El trabajo incluyó una cohorte retrospectiva con 369 personas, tres grupos focales con 48 participantes y entrevistas en profundidad a 20 casos. Resultados Se documentaron barreras propias del sistema de salud, barreras intermedias (laborales y geográficas) y barreras estructurales (economía, ingresos, poder adquisitivo, cohesión social y educación). Los diagnósticos oportunos fueron del 32,5 %. Los determinantes relacionados fueron: escolaridad igual o superior a la formación técnica (OR:4,4), vivienda propia (OR:4,8), vivir en medio urbano (OR:3,5) y afiliación al régimen contributivo (OR:1,9). El 28 % reportaron la negación de algún tipo de servicio (biopsia, cirugía), y la tasa de uso de recursos legales fue de cinco por cada 100 casos nuevos año. Se documentó el itinerario desde la aparición de la enfermedad, hasta la atención definitiva. Discusión Las personas en condiciones desfavorables presentan los casos más complejos y paradójicamente enfrentan la mayor cantidad de barreras de acceso. Estas barreras trascienden el sistema de salud, y no dependen exclusivamente de una reforma al sector.
ABSTRACT Objectives Describing and understanding the experiences of people suffering non-melanoma skin cancer in their struggles to recuperate, deciphering their itinerary regarding their health-seeking behavior, describing the relationship between patients and the Colombian healthcare system by referring to the number of pertinent writs and the percentage of denied services, and documenting the determinants which are related to timely diagnosis. Methods This was a mixed-methods study, combining epidemiology and critical medical anthropology; the study involved a retrospective cohort of 369 people, 3 focus groups including 48 participants and in-depth interviews regarding 20 cases. Results The data revealed specific healthcare system-related barriers to access to healthcare, intermediate barriers (work-related and geographical) and structural barriers (economic-, income-, purchasing power-, social cohesion- and education-related). Timely diagnosis was made in 32.5% of the reported cases. Related determinants consisted of educational level equal to or above technical training (OR 4.4), home ownership (OR 4.8), living in an urban area (OR3.5) and contributory regime affiliation (OR 1.9); 28% of the people involved in the study reported that they had been denied access to a service (biopsy, surgery) and the rate of resorting to legal means (i.e. writs) was 5 out of every 100 new cases per year. The itinerary from the time of the appearance of a particular disease to definitive resolution was established. Discussion People living in unfavorable social conditions were involved in the severest cases and, paradoxically, faced the largest set of barriers to access to healthcare in Colombia. Such barriers extend beyond the healthcare system and will not become resolved solely through healthcare reform.