Résumé
Los nevus apocrinos puros son hamartomas de las unidades pilosebáceas caracterizadas por proliferaciones benignas de glándulas apocrinas maduras, la cual es una descripción microscópica realizada en los reportes de patología sin que se nombre el diagnóstico exacto. Considerando además, los diagnósticos diferenciales clínicos y la baja frecuencia de este diagnóstico, presentamos un caso clínico y una revisión del tema
Pure apocrine nevi are hamartomas of the pilosebaceous units characterized by benign proliferations of mature apocrine glands, which is a microscopic description made in pathology reports without the exact diagnosis being named. Considering the clinical differential diagnoses and its low frequency, we present a case report and a review of the literature on this topic
Sujets)
Humains , Femelle , Adolescent , Glandes apocrines , Maladies des glandes sudoripares/diagnostic , Hamartomes/diagnostic , Glandes apocrines/anatomopathologie , Maladies des glandes sudoripares/anatomopathologie , Hamartomes/anatomopathologie , NaevusRésumé
O hamartoma folicular basaloide (HFB) é um tumor anexial raro e benigno, que se assemelha ao carcinoma basocelular (CBC), e pode apresentar manifestações clínicas diversas. Uma mutação no gene PTCH, envolvido na síndrome de Gorlin-Goltz, poderia estar associada à patogênese dessa neoplasia. Descreve-se caso de menina, sete anos, apresentando múltiplas pápulas na face.
Basaloid follicular hamartoma (BFH) is a rare and benign adnexal tumor that resembles basal cell carcinoma (BCC) and may present with different clinical manifestations. A mutation in the PTCH gene, involved in Gorlin-Goltz syndrome, could be associated with the pathogenesis of this neoplasm. We describe the case of a 7-year-old girl with multiple papules on her face.
Sujets)
Humains , Femelle , Enfant , Dermatoses faciales/diagnostic , Hamartomes/diagnostic , Immunohistochimie , Dermatoses faciales/anatomopathologie , Hamartomes/anatomopathologieRésumé
SUMMARY: Neuroendocrine lung tumours are a group of different tumours that have similar morphological, immunohistochemical and molecular characteristics, and represents 1-2 % of all malignant lung tumours. Tumorlet carcinoids represent the nodular proliferation of hyperplastic neuroendocrine cells that is smaller than 5 mm in size. In this study, we reported the unusual finding of tumour carcinoid and endobronchial hamartoma in the same bronchus. A 49-year-old male patient with symptoms of prolonged severe cough and fever, and was treated for pneumonia. Since he did not adequately respond to antibiotic therapy lung CT scan was performed which showed middle lobe bronchus obstruction. Bronchoscopy revealed a lobulated whitish tumour which was biopsied and histopathological diagnosis was hamartoma. Tumour could not be completely removed during bronchoscopy, it was decided to surgically remove it. On serial section, during gross examination in the same bronchus, an oval yellowish area with a diameter of 3 mm was found along the bronchial wall. According to gross and histomorphological characteristics and immunophenotype of tumour cells, the diagnosis of tumour carcinoid was set. Diagnosis of carcinoids of the tumorlet type is usually an accidental finding and it can be seen on CT in the form of subcentimeter, single or multiple, nodular changes. Considering that the clinical picture is nonspecific, they should always be kept in mind as a possible differential diagnosis.
RESUMEN: Los tumores neuroendocrinos de pulmón son un grupo de tumores de diferentes características morfológicas, inmunohistoquímicas y moleculares similares, y representan el 1- 2 % de todos los tumores malignos de pulmón. Los carcinoides tumorales representan la proliferación nodular de células neuroendocrinas hiperplásicas de tamaño inferior a 5 mm. En este estudio reportamos el hallazgo inusual de tumor carcinoide y hamartoma endobronquial en el mismo bronquio. Un paciente varón de 49 años con síntomas de tos severa prolongada y fiebre fue tratado por neumonía. Al no responder adecuadamente a la terapia con antibióticos, se realizó una tomografía computarizada de pulmón que mostró obstrucción del bronquio del lóbulo medio. La broncoscopia reveló una tumoración blanquecina lobulada de la cual se tomó biopsia y el diagnóstico histopatológico fue hamartoma. No fue posible extirpar el tumor por completo durante la broncoscopia y se decidió extirparlo quirúrgicamente. En la sección seriada, durante el examen macroscópico en el mismo bronquio, se encontró un área amarillenta ovalada de 3 mm de diámetro a lo largo de la pared bronquial. De acuerdo a las características macroscópicas e histomorfológicas y de inmunofenotipo de las células tumorales, se estableció el diagnóstico de tumor carcinoide. El diagnóstico de carcinoides de tipo tumorlet suele ser un hallazgo accidental y se observan en la TC en forma de cambios nodulares subcentimétricos, únicos o múltiples. En consideración de que el cuadro clínico es inespecífico, siempre debe tenerse en cuenta como posible diagnóstico diferencial.
Sujets)
Humains , Mâle , Adulte d'âge moyen , Tumeurs des bronches/anatomopathologie , Tumeur carcinoïde/anatomopathologie , Hamartomes/anatomopathologie , Tumeurs des bronches/diagnostic , Bronchoscopie , Tumeur carcinoïde/diagnostic , Hamartomes/diagnosticRésumé
El esteatocistoma es un hamartoma quístico de la porción media de las unidades folículo sebáceas que afecta principalmente el ducto sebáceo. Comúnmente se encuentra de manera múltiple y se transmite en forma autosómica dominante; en algunos casos se presenta en un contexto no familiar y en otros puede ser solitario. La primera descripción del esteatocistoma múltiple (EM) muy probablemente corresponde a Jamieson en 1873. La forma solitaria de esteatocistoma fue descrito por primera vez en 1982 por Brownstein y existen pocos casos descritos en la literatura Presentamos un caso clínico de paciente varón joven con tumoración solitaria en cuero cabelludo que fue extirpado cuyo resultado histopatológico fue de esteatocistoma solitario.
Steatocystoma is a cystic hamartoma of the middle portion of the sebaceous follicular units that mainly affects the sebaceous duct. It commonly presents in multiple forms and is transmitted in an autosomal dominant manner; in some cases, it occurs in a non-familial context and in others it may be solitary. The first description of steatocystoma multiplex (MS) is most likely by Jamieson in 1873. The solitary form of steatocystoma was first described in 1982 by Brownstein and there are few cases described in the literature. We present a clinical case of a young male patient with a solitary tumor on the scalp that was excised and whose histopathological result was solitary steatocystoma.
Sujets)
Humains , Mâle , Adulte d'âge moyen , Maladies de la peau/diagnostic , Maladies de la peau/anatomopathologie , Kyste épidermique/diagnostic , Kyste épidermique/anatomopathologie , Cuir chevelu , Maladies de la peau/chirurgie , Kyste épidermique/chirurgie , Hamartomes/diagnosticSujets)
Humains , Mâle , Enfant d'âge préscolaire , Maladies de la peau/congénital , Hamartomes/congénital , Maladies de la peau/diagnostic , Maladies de la peau/anatomopathologie , Fesses , Prolifération cellulaire , Tronc , Dermatoses du pied/congénital , Dermatoses du pied/diagnostic , Dermatoses du pied/anatomopathologie , Hamartomes/diagnostic , Hamartomes/anatomopathologieRésumé
El hamartoma mesenquimal rabdomiomatoso es una lesión cutánea rara descripta por primera vez en 1986 como "hamartoma de músculo estriado". En general, se presenta en la región de la cabeza y el cuello de los recién nacidos. En este artículo, describimos el caso de una niña de 38 días con un apéndice cutáneo congénito en la región perianal. En el examen físico, no se observaron anomalías congénitas ni otras lesiones cutáneas. En el examen histopatológico, se observó un hamartoma con fibras de músculo esquelético desorganizadas. El diagnóstico diferencial incluyó apéndice cutáneo, trago accesorio y fibroma péndulo. El hamartoma mesenquimal rabdomiomatoso se diferencia de las lesiones mencionadas debido al componente de músculo estriado. Dado que no conlleva el riesgo de recurrencia ni de transformación a neoplasia maligna, no es muy relevante diferenciarlo de estas lesiones. Sin embargo, es importante establecer el diagnóstico correcto porque aproximadamente un tercio de los casos se asocian con anomalías congénitas. Asimismo, es necesario un diagnóstico histopatológico en los niños con ubicación perianal debido a las manifestaciones clínicas similares al rabdomiosarcoma.
Rhabdomyomatous mesenchymal hamartoma is a rare dermal lesion which was first described in 1986 as "striated muscle hamartoma". It usually develops in the head and neck region of newborns. We report a 38-day-old girl with a congenital skin tag in the perianal region. Physical examination did not reveal any congenital abnormalities or other dermal lesions. Histopathological examination showed a hamartoma with disorganized skeletal muscle fibers. The differential diagnosis includes skin tag, accessory tragus and soft fibroma. Rhabdomyomatous mesenchymal hamartoma differs from the listed lesions with its striated muscle component. Since it does not carry the risk of recurrence and malignant transformation, it is not very important to distinguish it from these lesions. However, a correct diagnosis is important because approximately one third of the cases are associated with congenital anomalies. Also, histopathological diagnosis should be made in children with perianal localization due to similar clinical manifestation of rhabdomyosarcoma.
Sujets)
Humains , Femelle , Nourrisson , Rhabdomyome/diagnostic , Hamartomes/diagnostic , Tumeurs de l'anus , Rhabdomyome/chirurgie , Rhabdomyome/anatomopathologie , Hamartomes/chirurgie , Hamartomes/anatomopathologieRésumé
Resumen: Introducción: el hamartoma fibroso de la infancia (HFI) es un tumor benigno de partes blandas que se presenta generalmente en población infantil y que posee una morfología histológica característica. Objetivo: describir un caso de HFI congénito de características clínicas e histológicas atípicas. Caso Clínico: recién nacido de término, sexo masculino, sin antecedentes mórbidos perinatales, es deriva do a dermatología por placa eritematosa congénita en región umbilical. Estudio histológico evidenció proliferación fusocelular en dermis e hipodermis, de morfología bifásica, con un patrón arremolina do infiltrante y otro de bandas de células fusadas con hábitos fibroblásticos y miofibroblásticos, aso ciada en profundidad a un componente de tejido adiposo maduro. El estudio inmunohistoquímico mostró positividad difusa a CD34 y focalmente para FXIIIa, con ausencia de inmunoreactividad a ac- tina, desmina, MyoD1, S100, HMB45, Melan A y EMA. Fluorescent in situ hybridization (FISH) para platelet-derived growth factor beta (PDGF beta) y para el gen ETV6 negativos, presentes en el dermatofibrosarcoma protuberans congénito y fibrosarcoma infantil, respectivamente. Estos antecedentes, sumado a los hallazgos histológicos previos, apoyaron el diagnóstico de HFI. Se realizó extirpación quirúrgica, sin signos de recidiva durante el seguimiento clínico. Conclusión: es importante consi derar el HFI dentro del diagnóstico diferencial de tumores subcutáneos infantiles, principalmente en población menor de 2 años. Si bien su comportamiento es benigno, presenta similitud con múltiples lesiones benignas y malignas, lo que hace imperativo realizar un estudio histológico exhaustivo ante lesiones clínicas sospechosas.
Abstract: Introduction: Fibrous hamartoma of infancy (FHI) is a benign, soft tissue tumor that usually oc curs in children and has a characteristic histological morphology. Objective: To describe a case of congenital FHI with atypical histological and clinical characteristics. Clinical case: Full-term male newborn, with no perinatal morbid history was referred to dermatology due to a congenital erythe matous plaque in the umbilical region. The histological study showed a fusocelullar proliferation in dermis and hypodermis of biphasic distribution, with an infiltrative, swirling pattern and bundles of spindle fibroblast-like and myofibroblast-like cells, associated in depth with a mature adipose tissue component. The immunohistochemical study revealed diffuse positivity for CD34, and focal posi tivity for FXIIIa, without immunoreactivity for actin, desmin, MyoD1, S100, HMB45, Melan-A, or EMA. Fluorescent in situ hybridization (FISH) was negative for platelet-derived growth factor recep tor beta (PDGFR-beta) and for ETV6 gene. PDGFR-beta and ETV6 gene are present in congenital dermatofibrosarcoma protuberans and infantile fibrosarcoma, respectively. This history, in addition to previous histological findings, supported the diagnosis of FHI. Surgical resection was performed, without signs of recurrence during clinical follow-up. Conclusion: It is important to consider the FHI within the differential diagnosis of subcutaneous tumors in children, especially in those under two years of age. Although its behavior is benign, it is similar to multiple benign and malignant le sions, which makes it imperative to perform a histological study in front of suspicious clinical lesions.
Sujets)
Humains , Mâle , Nouveau-né , Tumeurs des tissus mous/diagnostic , Ombilic/anatomopathologie , Hamartomes/diagnostic , Tumeurs des tissus mous/congénital , Tumeurs des tissus mous/anatomopathologie , Hamartomes/congénital , Hamartomes/anatomopathologieRésumé
Abstract: Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Due to the wide phenotypic variability, the disease is often not recognized. Tuberous sclerosis complex affects one in 10,000 newborns and most patients are diagnosed during the first 15 months of life. The diagnostic criteria for tuberous sclerosis were reviewed in 2012, at the second International Tuberous Sclerosis Complex Consensus Conference. The diagnosis is based on genetic criteria, by the identification of inactivating pathogenic mutation of tumor suppressor genes TSC1 and TSC2, and clinical criteria, including cutaneous, renal, pulmonary, cardiac and neurological manifestations. The treatment of tuberous sclerosis complex consists, mainly, in management of the symptoms caused by hamartomas and in prevention of organ failure. Multidisciplinary approach is recommended, in order to obtain better clinical outcomes.
Sujets)
Humains , Complexe de la sclérose tubéreuse/diagnostic , Hamartomes/diagnostic , Complexe de la sclérose tubéreuse/génétique , Complexe de la sclérose tubéreuse/thérapie , Sirolimus/usage thérapeutique , Hamartomes/génétique , Hamartomes/thérapie , Immunosuppresseurs/usage thérapeutique , MutationRésumé
Pulmonary placental transmogrification (PT) is a rare entity with less than 40 cases reported in the literature. Most reported cases are associated with either bullous emphysema or with pulmonary fibrochondromatous hamartomas. We present only the second case of PT associated with adenocarcinoma of the lung. A 67-year-old female with multiple chronic medical ailments presented with shortness of breath and was found to have a 6-cm mass in the upper lobe of her right lung. A computed tomography (CT) guided core biopsy was performed that showed a well-differentiated adenocarcinoma. Interestingly the normal lung tissue showed placental villous architecture. A unique feature of our case is that the diagnosis was made on a needle core biopsy, unlike all the other cases in the literature. We also provide a comprehensive review of this rare entity.
Sujets)
Humains , Femelle , Sujet âgé , Adénocarcinome/complications , Ponction-biopsie à l'aiguille , Hamartomes/diagnostic , Tumeurs du poumon/diagnostic , Emphysème pulmonaire/diagnostic , Diagnostic différentiel , Lésion pulmonaire/anatomopathologie , Maladies rares/anatomopathologie , Nodule pulmonaire solitaire/diagnosticRésumé
El nevo de Becker, es un hamartoma cutáneo benigno de etiología desconocida, que se presenta como una mácula hiperpigmentada de bordes geográficos. Por lo general, se ubica en la región torácica superior y su compromiso tiende a ser unilateral. Ocasionalmente el nevo de Becker se asocia a anomalías en el tejido óseo, muscular o cutáneo, siendo la ictiosis una característica muy infrecuente. La presencia de alguna de estas anomalías asociadas a un Nevo de Becker determina el síndrome del Nevo de Becker. Paciente de sexo masculino de 18 años, que consultó por un cuadro iniciado en la infancia, caracterizado por la aparición de manchas cafés, escamosas, pruriginosas que inicialmente se ubicaron en las extremidades inferiores y con el tiempo fueron apareciendo en tronco, región lumbar y glútea. Mediante la correlación clínico-patológica se llegó al diagnóstico de Nevo de Becker, con características ictiosiformes. Se realizaron estudios complementarios con ecocardiograma Doppler y radiografía de tórax, que resultaron normales y una ecotomografía Doppler color de tórax anterior que mostró una leve ginecomastia bilateral con discreto aumento del botón mamario derecho y una leve hipoplasia del pectoral mayor derecho diagnosticándose Síndrome de Nevo de Becker. La mayoría de los reportes de Síndrome de nevo de Becker describen anomalías como escoliosis o hipoplasia unilateral de la mama, con escasos reportes sobre ictiosis. Se reporta este caso por su presentación atípica con múltiples nevos de Becker, compromiso de hemicuerpo inferior y su asociación ictiosiforme poco descrita en la literatura.
Becker's nevus is a benign cutaneous hamartoma of unknown etiology; it appears as a hyperpigmented macula with geographical borders. Usually it is located in the upper thoracic region, unilaterally. Occasionally Becker nevus is associated with abnormalities in the bony, muscle or skin tissue, being ichthyosis an unusual feature. The presence of some of these anomalies associated with Becker´s nevus determine the Becker´s nevus syndrome. Male patient of 18 years old who had a clinical history that begun in childhood, characterized by the appearance of brown, scaly, itchy patch that initially were located in the lower extremities and eventually were appearing in the trunk, lumbar and gluteal area. The clinical-pathological correlation led us to the diagnosis of Becker´s nevus with ichthyosiform features. Additional studies were performed such as Doppler echocardiography and chest radiograph, both normal. Color Doppler ultrasonography of anterior chest showed a slight bilateral gynecomastia with discrete increase of the right breast and a slight hypoplasia of the right major pectoral, determining a Becker´s nevus syndrome. Most reports of Becker´s nevus syndrome described abnormalities such as scoliosis or unilateral breast hypoplasia, few cases have been reported with ichthyosis. This case is reported for its atypical presentation with multiple Becker´s nevus, compromise of the lower body and its ichthyosiform association, rarely described in the literature.
Sujets)
Humains , Mâle , Adolescent , Hamartomes/diagnostic , Naevus pigmentaire/diagnostic , Syndrome , Biopsie , Hamartomes/complications , Hamartomes/anatomopathologie , Naevus pigmentaire/anatomopathologieRésumé
Abstract: Myoid hamartoma is a rare entity, and was first described by Davies and Riddell in 1973. It is pathologically defined as the mixture of fatty glandular tissue and fibrous connective tissue, associated with a widespread focus of fusiform muscle cells. Six cases of HM diagnosed in seven patients are presented, with emphasis on imaging findings and characteristics of their respective core biopsies. The importance of biopsy in these lesions is required to differentiate malignant diseases. There is no need for excisional biopsy, because this is not associated with high-risk lesions or carcinomas.
Resumen: El hamartoma mioide es una lesión infrecuente; fue descrita por primera vez por Davies y Riddell en el año 1973; se define histológicamente como la mezcla de tejido glandular adiposo y conjuntivo fibroso, asociado a extensos focos de células musculares fusiformes. Se presentan 7 casos de HM diagnosticados en 7 pacientes, haciendo énfasis en las características imagenológicas y los hallazgos de las respectivas biopsias core. La importancia de realizar biopsia en estas lesiones radica en la necesidad de diferenciarla de patologías malignas; así mismo no existe necesidad de biopsia excisional, ya que se trata de una entidad que no se asocia a lesiones de alto riesgo o con cáncer.
Sujets)
Humains , Femelle , Adulte , Adulte d'âge moyen , Tumeurs du sein/diagnostic , Tumeurs du sein/imagerie diagnostique , Hamartomes/diagnostic , Hamartomes/imagerie diagnostique , Études de suivi , Études rétrospectivesRésumé
Introduction: Tailgut cysts or cystic hamartomas are rare developmental tumors of the pre-sacral space. Their true incidence is not well known but we must think on it when we have a patient with a multicystic uncapsulated tumor at presacral space. Tailgut cysts are often asymptomatic, and in other cases present with chronic perineal pain, constipation or rectal tenesmus. They must be treated to avoid complications such as infections (perianal fistula or abscess) and malignant degenerations (usually adenocarcinoma). Case report: One patient with anal pain was diagnosed with a perianal abscess. He was operated but at the second month review a MRI revealed a multilocular lesion in the presacral suggesting the presence of a retrorectal cystic hamartoma. An elective operation was performed by endoanal surgical approach using TAMIS. En bloc resection of the cyst was achieved with safe margins. The pathology result reported retrorectal cystic hamartoma. The patient was asymptomatic with no signs of recurrence in subsequent controls. Our experience, despite being based on one case, is evidence that TAMIS (Transanal Minimally Invasive Surgery) allows a minimally invasive dissection with similar benefits as the use of TEM/TEO devices. (AU)
Introdução: Tail gut cysts ou hamartomas císticos são tumores raros de desenvolvimento do espaço pré-sacral. Sua verdadeira incidência não é bem conhecida, mas devemos pensarnele quando temos um paciente com um tumor uncapsulated multicística no espaço présacral. Hamartomas císticos são muitas vezes assintomáticas, em outros casos, apresentase com dor perineal crônica, constipação ou tenesmo retal. Eles devem ser tratados para evitar complicações, como infecções (fístula perianal ou abscesso) e degenerações malignas (geralmente adenocarcinoma). Relato de Caso: Um paciente com dor anal foi diagnosticado com um abscesso perianal. Ele foi operado, mas na revisão do segundo mês uma ressonância magnética revelou uma lesão multilocular no pré-sacral, sugerindo a presença de um hamartoma cístico retrorretal. Uma operação eletiva foi realizada por abordagem cirúrgica endoanal usando TAMIS. A resseção em bloco do cisto foi conseguido com margens seguras. O resultado do exame patológico relatou hamartoma cístico retrorretal. O paciente encontrava-se assintomático, sem sinais de recidiva em controles posteriores. A nossa experiência, apesar de ser baseado em um dos casos, as provas que TAMIS (cirurgia transanal minimamente invasiva) permite um esvaziamento minimamente invasivo com benefícios similares como o uso de dispositivos de MET/TEO. (AU)
Sujets)
Humains , Mâle , Adulte , Chirurgie colorectale/méthodes , Interventions chirurgicales mini-invasives , Hamartomes/chirurgie , Rectum/chirurgie , Imagerie par résonance magnétique , Kystes/anatomopathologie , Hamartomes/diagnosticRésumé
Schwannomas arising from vagus nerve sheath are rare mediastinal neurogenic tumours. Schwannomas usually arise from left hemithorax. Unlike a hamartoma, radiologically, calcification is rarely seen in schwannomas. We present the rare case of an ancient schwannoma arising from vagus nerve sheath from the right hemithorax presenting with gross calcification.
Sujets)
Adulte , Calcinose/étiologie , Hamartomes/diagnostic , Humains , Mâle , Neurinome/diagnostic , Neurinome/anatomopathologie , Neurinome/imagerie diagnostique , Tumeurs du système nerveux périphérique/diagnostic , Tumeurs du système nerveux périphérique/anatomopathologie , Tumeurs du système nerveux périphérique/imagerie diagnostiqueRésumé
A full-term male neonate with anorectal anomaly and external perineal anomalies was referred to our service. Physical examination showed an epithelized perineal mass with cutaneous orifices, which had urine fistulization, hipotrofic perineal musculature, bilateral congenital clubfoot, hipospadic urethra, criptorquidy bilateral with nonpalpable testis and imperforate anus. A colostomy was constructed immediately after birth. The child underwent excision of perineal mass, bilateral orchidopexy, Duplay neourethroplasty and coloanal anastomosis at 3 months of age. The histopathological examination of the perineal mass revealed a hamartoma.
Recém-nascido a termo do sexo masculino encaminhado ao nosso serviço por anomalia anorretal e anomalias perineais externas. O exame físico revelou massa perineal epitelizada, com orifícios cutâneos que apresentavam saída de urina, musculatura perineal hipotrófica, pé torto congênito bilateral, uretra hipospádica, criptorquidia bilateral com testículos não palpáveis e ânus imperfurado. Logo após o nascimento, o paciente foi submetido à colostomia. Aos 3 meses de idade, a criança foi submetida à excisão da massa perineal, orquidopexia bilateral, neouretroplastia a Duplay e anastomose coloanal. A análise anatomopatológica da massa perineal indicou hamartoma.
Sujets)
Humains , Nouveau-né , Mâle , Malformations multiples , Imperforation anale/complications , Cryptorchidie/complications , Hamartomes/complications , Périnée/malformations , Imperforation anale/chirurgie , Cryptorchidie/chirurgie , Hamartomes/diagnostic , Hamartomes/chirurgie , Maladies rares/complications , Maladies rares/chirurgieRésumé
Introducción: Los hamartomas y la hiperplasia estromal pseudoangiomatosa nodular (PASH) son entidades infrecuentes en la patología tumoral mamaria, sin embargo, pueden simular al cáncer de mama. La única herramienta certera preoperatoria es la biopsia. El tratamiento quirúrgico es curativo con bajo índice de recurrencia. Objetivo: El objetivo de este trabajo es exponer un caso de hamartoma mamario con PASH asociado cuya presentación inicial fue sugerente de probable patología maligna. Caso Clínico: Mujer de 44 años, ingresa a controles por probable patología mamaria maligna, la mamografía fue informada como BIRADS 0, la ecografía mamaria como BIRADS US: 5, la biopsia CORE informó PASH. Se realizó mastectomía parcial objetivando en la biopsia diferida un hamartoma mamario con extensa hiperplasia estromal pseudoangiomatosa. Discusión: Los hamartomas y la PASH son patologías sin presentación clínica específica, los hallazgos radiológicos del hamartoma pueden ser patognomónicos, no así en la PASH; en el caso expuesto el estudio anatomopatológico demostró una asociación de estas patologías, la cual se describe desde un 16 por ciento a un 71 por ciento de los casos de hamartoma mamario. El análisis de toda la pieza quirúrgica es fundamental para establecer un diagnóstico definitivo.
Introduction: Hamartoma and nodular pseudoangiomatous stromal hyperplasia (PASH) are inusual breast tumor entities, however, can simulate breast cancer. The only accurate tool is preoperative biopsy. Surgical treatment is curative with low recurrence rate. Objective: To present a case of mammary hamartoma associated with PASH whose initial presentation was suggestive of probable malignancy. Case Report: Woman, 44 years old, admitted to controls because of probable malignant breast disease, mammography was reported as BIRADS 0, breast ultrasound as BIRADS U.S: 5, CORE biopsy reported PASH. Partial mastectomy was performed. On delayed biopsy mammary hamartoma with extensive stromal hyperplasia pseudoangiomatosa was diagnosed. Discussion: PASH and hamartomas are diseases with no specific clinical presentation, radiological findings may be pathognomonic of hamartoma, while not in PASH. In the reported case the pathological study showed an association of these conditions, described in a 16% to 71% breast hamartoma cases. The analysis of the entire surgical specimen is essential for a definitive diagnosis.
Sujets)
Humains , Adulte , Femelle , Angiomatose/chirurgie , Angiomatose/diagnostic , Maladies du sein/chirurgie , Maladies du sein/diagnostic , Hamartomes/chirurgie , Hamartomes/diagnostic , Diagnostic différentiel , Hyperplasie , Mastectomie partielleRésumé
The rhabdomyomatous mesenchymal hamartoma (RMH) is a rare type of hamartoma, composed of randomly arranged striated muscle fibers in dermis and subcutaneous tissue, associated with normal mesenchymal elements. Our objective is to report a case of this rare entity that occurred in the nasal dorsum of a 4-year-old child...
O hamartoma mesenquimal rabdomiomatoso (HMR) representa um raro tipo de hamartoma composto por fibras musculares estriadas dispostas aleatoriamente em derme e tecido subcutâneo, associadas a elementos mesenquimais normais. O nosso objetivo é relatar um caso desta rara entidade que ocorreu no dorso nasal de uma criança de 4 anos...