RESUMEN
This case report describes a case of a patient with MUTYH-associated polyposis (MAP), who presented with multiple sebaceomas in a Muir-Torre-like phenotype. MAP is caused by mutations in MUTYH, a base excision repair gene responsible for detecting and repairing the 8-oxo-G:A transversion caused by reactive oxygen species. MAP is associated with an increased risk of developing adenomatous polyps and colorectal cancer. Muir-Torre syndrome is a clinical phenotype of Lynch syndrome, which presents with multiple cutaneous sebaceous neoplasms. Lynch syndrome, like MAP, increases the likelihood of developing colorectal cancer but with a different pathogenesis and mode of inheritance. This case demonstrates that in a patient presenting with multiple sebaceous neoplasms, further workup and genetic testing may be indicated, not only for Muir-Torre and Lynch syndrome but also for MAP.
RESUMEN
BACKGROUND: Current staging systems for cutaneous squamous cell carcinoma (cSCC) incorporate histologic grade. There are no universally agreed on criteria to define differentiation for cSCC. OBJECTIVE: To determine the interrater and intrarater reliability among dermatopathologists and Mohs surgeons in grading histological differentiation for cSCC. METHODS AND MATERIALS: One hundred thirty-one archived slides were selected. Three dermatopathologists and 3 Mohs surgeons graded the tumors in a blinded manner (Round 1). In an attempt to improve concordance, all 6 participants were then asked to regrade the tumors based on a devised quantitative grading scale (Round 2). RESULTS: For Round 1, overall κ was 0.56 corresponding to a weak agreement. κ for well, moderate, and poorly differentiated tumors was 0.68, 0.39, and 0.59, respectively, corresponding to moderate, minimal, and weak concordance. For Round 2 of the study, overall κ was 0.60, with κ = 0.75, 0.46, and 0.61 for well, moderate, and poorly differentiated tumors, respectively. Overall intrarater reliability was 0.70 (κ = 0.70, 0.77, 0.68, 0.71, 0.56, and 0.75), corresponding to a moderate concordance. CONCLUSION: Overall concordance for cSCC histologic grading is weak to moderate among the experimental group. Substantial differences in concordance exist among histological degrees of differentiation, with lowest agreement in moderately differentiated tumors.
Asunto(s)
Carcinoma de Células Escamosas/patología , Dermatología , Patología Clínica , Neoplasias Cutáneas/patología , Oncología Quirúrgica , Humanos , Cirugía de Mohs , Clasificación del Tumor , Variaciones Dependientes del Observador , Reproducibilidad de los ResultadosAsunto(s)
Genes Recesivos , Predisposición Genética a la Enfermedad , Ictiosis Lamelar/patología , Ictiosis Ligada al Cromosoma X/patología , Sistema de Registros , Transglutaminasas/genética , Biopsia con Aguja , Femenino , Humanos , Ictiosis Lamelar/genética , Ictiosis Ligada al Cromosoma X/genética , Inmunohistoquímica , Masculino , Mutación , Estadísticas no ParamétricasRESUMEN
Superficial acral fibromyxoma (SAFM) is a rare fibromyxoid mesenchymal tumor with a predilection for the distal extremities and frequent nail bed involvement. Superficial acral fibromyxoma typically arises as a solitary, slow-growing nodule on a toe or finger, with the great toe being the most commonly affected site. Histopathologically, SAFM characteristically presents as a well-circumscribed but unencapsulated dermal tumor composed of spindle and stellate cells in a loose storiform or fascicular arrangement embedded in a myxoid, myxocollagenous, or collagenous stroma. The tumor often occupies the entire dermis and may extend into the subcutis and occasionally the underlying fascia and bone. The characteristic immunohistochemical profile of SAFM includes expression of CD34, epithelial membrane antigen (EMA), and CD99; it is notably negative for S-100 protein. We report 3 cases of SAFM and also provide a review of the literature on the clinical and histopathologic presentations of this unique entity as well as the differential diagnosis.
Asunto(s)
Fibroma/patología , Enfermedades de la Uña/patología , Neoplasias Cutáneas/patología , Antígeno 12E7 , Adulto , Antígenos CD/metabolismo , Antígenos CD34/metabolismo , Biopsia , Moléculas de Adhesión Celular/metabolismo , Femenino , Fibroma/metabolismo , Humanos , Masculino , Persona de Mediana Edad , Mucina-1/metabolismo , Enfermedades de la Uña/metabolismo , Neoplasias Cutáneas/metabolismo , Dedos del PieRESUMEN
Many current business trends in the field of dermatopathology deserve ethical scrutiny. An important point to consider in these analyses is that which is legal is not necessarily ethical. We examine the topics of client billing, contractual joint ventures, and health information technology donations, including both the legal implications as pertaining to the Stark Law and Anti-Kickback Statute, and the ethical ramifications of these practices.
Asunto(s)
Dermatología/legislación & jurisprudencia , Registros Electrónicos de Salud/legislación & jurisprudencia , Honorarios y Precios/legislación & jurisprudencia , Convenios Médico-Hospital/legislación & jurisprudencia , Derivación y Consulta/legislación & jurisprudencia , Dermatología/ética , Fraude , Humanos , Medicaid/legislación & jurisprudencia , Medicare/legislación & jurisprudencia , Estados UnidosRESUMEN
Malignant melanoma of the nail confers a higher mortality rate compared to other cutaneous melanomas, which is often attributable to delayed diagnosis. Two-thirds of nail melanomas present as longitudinal melanonychia (LM), longitudinally-oriented brown-black bands of pigment in the nail plate. This article delineates the appropriate clinical approach toward evaluation and management of a patient with longitudinal melanonychia, which includes determining risk factors for melanoma, recognizing scenarios in which biopsy is indicated, selecting the appropriate biopsy technique, and managing a patient in whom the diagnosis of nail melanoma has been made.