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Resumen ANTECEDENTES: La enfermedad de Paget pigmentada de la mama es una variante poco frecuente de este padecimiento cutáneo, una dermatosis que afecta al complejo areola-pezón de manera típicamente unilateral. La importancia del reconocimiento de esta dermatosis pigmentada inespecífica es que forma parte del diagnóstico diferencial del melanoma cutáneo, por manifestarse como una mácula pigmentada irregular, cuyo estudio histopatológico muestra una proliferación de melanocitos en los estratos suprabasales de la epidermis, fagocitosis de melanina y melanófagos en dermis, hallazgos muy similares al melanoma cutáneo, además de la coexistencia de células claras malignas, características de la enfermedad de Paget. La inmunohistoquímica es una técnica auxiliar en la dermatopatología, que forma parte del proceso diagnóstico de los pacientes para lograr el diagnóstico certero que, al correlacionar la clínica y el estudio histopatológico, le permite al dermatólogo tratar a los pacientes con enfermedad de Paget pigmentada de la mama junto con un equipo multidisciplinario para la búsqueda, diagnóstico y, en su caso, tratamiento quirúrgico de las neoplasias subyacentes que suelen relacionarse con esta variante pigmentada. CASO CLÍNICO: Paciente de 35 años con una lesión pigmentada que afectaba el complejo areola-pezón derecho. Con la correlación histopatológica e inmunohistoquímica se estableció el diagnóstico de enfermedad de Paget pigmentada de la mama y posterior al procedimiento ginecológico, se asoció esta dermatosis con un adenocarcinoma microinvasor triple negativo. CONCLUSIONES: La enfermedad de Paget pigmentada de la mama es un diagnóstico complejo que requiere correlación clínico-patológica y estudios de extensión para valorar su asociación con neoplasias subyacentes.
Abstract BACKGROUND: Pigmented Mammary Paget's Disease is a rare variant of this skin condition, an unilateral dermatosis that typically affects the areola-nipple complex. The importance of recognizing this nonspecific pigmented dermatosis resides in its differential diagnosis of cutaneous melanoma, as it presents as an irregular pigmented macula. The histopathological study shows proliferation of melanocytes in the suprabasal layers of epidermis, phagocytosis of melanin and melanophages in dermis. These findings are very similar to cutaneous melanoma, in addition to the presence of malignant clear epitelial cells that are characteristic of Paget's disease. Immunohistochemistry is part of the approach of patients with lesions that shows proliferating melanocytes to rule out other neoplasms. Making an accurate diagnosis by correlating the clinical, histopathological study and immunohistochemistry allows the dermatologist to approach patients with mammary pigmented mammary Paget's disease with a multidisciplinary team for the diagnosis and surgical treatment of the underlying neoplasms that are usually related to this pigmented variant. CASE REPORT: We report the case of a 35 years old woman with a pigmented lesion that affected the right areola-nipple complex. With the histopathological and immunohistochemical correlation, the diagnosis of pigmented mammary Paget's disease was made and after the gynecological approach, this dermatosis was associated with a triple negative microinvasive adenocarcinoma. CONCLUSION: Pigmented mammary Paget's disease is a complicated diagnosis that requires clinicopathological correlation and extension studies to assess its association to underlying neoplasms.
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Resumen Introducción: la neurofibromatosis es un desorden genético, que afecta el crecimiento de tejidos neurales, con una incidencia de 1 en 4 000 personas, con impacto en la esperanza de vida por su asociación con neoplasias y enfermedad vascular. La neurofibromatosis segmentaria es una variante de la neurofibromatosis tipo 1, con una incidencia aproximada de 1 en 20 000 a 25,000 personas, se caracteriza por lesiones cutáneas que afectan un segmento corporal sin cruzar la línea media. Generalmente no tienen historia familiar ni compromiso sistémico. Caso clínico: paciente de sexo femenino de 63 años con dermatosis que afecta el tronco posterior de manera unilateral a nivel de los dermatomas T10-T11, caracterizada por múltiples neoformaciones exofíticas milimétricas en forma de domo, de consistencia blanda y depresibles a la palpación. El estudio histopatológico de una de ellas confirmó el diagnóstico de neurofibroma. La paciente no presentaba afectación neurológica ni ocular, además, sin afección en familiares, por lo que se establece diagnóstico de neurofibromatosis segmentaria. Conclusiones: la neurofibromatosis segmentaria es una patología poco frecuente, Aunque posiblemente sea subdiagnosticada por su carácter asintomático, lo que ocasiona una aparente baja incidencia. Los pacientes que la padecen pueden presentar penetrancia sistémica variable y un riesgo similar de neoplasias al descrito en pacientes con neurofibromatosis tipo 1. Pese al carácter benigno reportado en la literatura sugerimos un abordaje multidisciplinario de los pacientes.
Abstract Introduction: neurofibromatosis is a genetic disorder that affects the growth of neural tissues, with an incidence of 1 in 4 000, with impact on life expectancy due its association with neoplasms and vascular disease. segmental neurofibromatosis is a subtype of neurofibromatosis type 1, with an approximate incidence of 1 in 20 000 to 25 000 people, it is characterized by skin lesions that affects a body segment without crossing midline, they generally have no family history or systemic involvement. Clinical case: a 63-year-old female patient with dermatosis affecting the posterior trunk unilaterally at the level of dermatomes t10-t11, characterized by multiple exophytic, dome-shaped, millimeter sized neoformations, soft in consistency and depressible on palpation. the histopatologic study of one of them confirmed the diagnosis of neurofibroma. the patient did not present neurological or ocular involvement, without affection in relatives. diagnosis of segmental neurofibromatosis was made. Conclusions: segmental neurofibromatosis is a rare pathology, although it is possibly underdiagnosed due its asymptomatic nature, which causes an apparent low incidence. patients may present variable systemic penetrance and a similar risk of neoplasm compared to patients with neurofibromatosis type 1. despite the benign nature reported in the literature, we suggest a multidisciplinary approach to patients.
ABSTRACT
INTRODUCTION: Lupus erythematosus is a multisystemic disease that is characterized by autoantibody production and immune complex deposition in such tissues as the mucosa, joints, the central nervous system, and skin. Cutaneous lupus erythematosus is categorized as acute, subacute, and chronic. Chronic cutaneous lupus erythematosus comprises discoid lupus erythematosus (DLE) and lupus profundus (LP). AIM: To analyze the expression of proapoptotic molecules in patients with lupus erythematosus discoid and lupus profundus. MATERIAL AND METHODS: Descriptive study, the study groups comprised 10 cases of LP and 10 cases of DLE, and a control. Skin samples of cases and controls were processed for immunohistochemistry and by TUNEL technique. The database and statistical analysis was performed (statistical test X(2)) SPSS (Chicago, IL, USA). RESULTS: Apoptotic features were broadly distributed along the skin biopsies in epidermal keratinocytes as well as at dermis. By immunohistochemistry the expression of Fas receptor and Fas-L was higher in the skin of lupus patients compared with controls. We also noted differences in Fas-L, -Fas, and -Bax proteins expression intensity in discoid lupus erythematosus patients in the epidermis, and hair follicles. CONCLUSIONS: Fas and Fas-L are expressed similarly in LP and DLE.