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2.
Rev. argent. cir. plást ; 29(1): 38-42, 20230000. fig, tab
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-1428657

RESUMO

La ET es un trastorno multisistémico autosómico dominante que se caracteriza por displasia celular y tisular en varios órganos (cerebro, corazón, piel, ojos, riñones, pulmones) que constituyen una fuente importante de morbilidad y mortalidad. Las manifestaciones comunes incluyen tubérculos corticales, nódulos subependimarios, astrocitomas subependimarios de células gigantes, convulsiones, rabdomiomas cardíacos, AML renales, hamartomas retinianos, linfangioleiomiomatosis pulmonar, angiofibromas faciales, manchas de hojas de ceniza, parches de Shagreen, discapacidad intelectual y trastorno del espectro autista. Se presenta a continuación la resolución de un caso problema grave de una paciente que llega a la consulta al hospital público, con severa incapacidad para mantener la permeabilidad de la válvula nasal externa, a expensas de formación harmartomatosa grave, de años de evolución, fétida y sangrante, decidiéndose tomar conducta quirúrgica urgente y agresiva dada las condiciones de la lesión, la poca colaboración de la paciente y el contexto familiar de la misma que presenta además trastornos conductuales asociados a manifestaciones neurológicas de la enfermedad (retraso madurativo)


ET is an autosomal dominant multisystem disorder characterized by cellular and tissue dysplasia in several organs (brain, heart, skin, eyes, kidneys, lungs) that constitute a major source of morbidity and mortality. Common manifestations include cortical tubercles, subependymal nodules, subependymal giant cell astrocytomas, seizures, cardiac rhabdomyomas, renal AML, retinal hamartomas, pulmonary lymphangioleiomyomatosis, facial angiofibromas, ash leaf spots, shagreen patches, intellectual disability, and autism spectrum disorder. This paper presents the resolution of a serious problem case of a patient who attends the consultation of a public hospital, with severe inability to maintain the patency of the external nasal valve, at the expense of severe harmartomatous formation, of many years of evolution, fetid and bleeding, deciding to undertake urgent and aggressive surgical conduct given the conditions of the lesion, the lack of collaboration of the patient and the family context of the same, which also presents behavioral disorders associated with neurological manifestations of the disease (maturational delay).


Assuntos
Humanos , Feminino , Adulto , Esclerose Tuberosa/patologia , Angiofibroma/terapia , Hamartoma/patologia , Cavidade Nasal/lesões
3.
Clin. biomed. res ; 43(1): 86-89, 2023.
Artigo em Inglês | LILACS | ID: biblio-1436236

RESUMO

Lipofibromatous hamartoma (LFH) is a rare fibrofatty tumor of adipocytes within peripheral nerves, affecting mainly children. It typically presents as a palpable mass surrounding the nerves of the upper limbs, causing pain and neurological deficits in the affected nerve distribution. We report the case of a child with a 2-years presentation of a mass in the right wrist associated with pain and paresthesia, who underwent investigation with magnetic resonance imaging (MRI). It showed thickening of the median nerve with spaghetti-like appearance associated with lipomatous tissue in a coaxial cable-like pattern, both features characteristic of LFH. This case illustrates the importance of MRI in the differential diagnosis of limb masses in the pediatric population.


Assuntos
Humanos , Criança , Neuropatia Mediana/diagnóstico por imagem , Fibroma/diagnóstico por imagem , Hamartoma/diagnóstico por imagem , Neuropatia Mediana/terapia , Fibroma/terapia , Hamartoma/terapia , Lipoma/terapia , Lipoma/diagnóstico por imagem
4.
Med. lab ; 27(1): 45-49, 2023. ilus
Artigo em Espanhol | LILACS | ID: biblio-1413090

RESUMO

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


Assuntos
Humanos , Feminino , Adolescente , Glândulas Apócrinas , Doenças das Glândulas Sudoríparas/diagnóstico , Hamartoma/diagnóstico , Glândulas Apócrinas/patologia , Doenças das Glândulas Sudoríparas/patologia , Hamartoma/patologia , Nevo
5.
J. coloproctol. (Rio J., Impr.) ; 42(2): 190-192, Apr.-June 2022. ilus
Artigo em Inglês | LILACS | ID: biblio-1394415

RESUMO

Retrorectal hamartoma, also called tailgut cyst, is a congenital lesion resulting from the non-regression of embryo remnants of the hindgut. We describe in this work the case report of a 68-year-old man, previously healthy, complaining of rectal bulging for 4 months, which was diagnosed by nuclear magnetic resonance imaging as a multi-loculated and mucinous lesion, suggestive of tailgut cyst. In view of the finding, the lesion was surgically resected, due to the potential for future complications, and, through the anatomopathological analysis, there were no findings of malignancy in the specimen. (AU)


Assuntos
Humanos , Masculino , Idoso , Doenças Retais/diagnóstico por imagem , Hamartoma/diagnóstico por imagem , Doenças Retais/cirurgia , Imageamento por Ressonância Magnética , Hamartoma/cirurgia
6.
An. bras. dermatol ; 97(1): 45-48, Jan.-Feb. 2022. graf
Artigo em Inglês | LILACS | ID: biblio-1360093

RESUMO

Abstract Basaloid follicular hamartoma is a benign, superficial malformation of hair follicles that can be mistaken both clinical and histopathologically for basal cell carcinoma. Basaloid follicular hamartoma has been linked to a mutation in the PTCH-1 gene, which is part of the same pathway involved in Gorlin-Goltz syndrome. Here we present a 9-year-old patient with an asymptomatic congenital lesion on the forehead, which increased in size over the years. Histopathology showed a basaloid follicular hamartoma associated with follicular mucinosis and inflammation. Gorlin-Goltz syndrome was ruled out by clinical examination.


Assuntos
Humanos , Criança , Neoplasias Cutâneas , Carcinoma Basocelular , Mucinose Folicular , Hamartoma/complicações , Inflamação
7.
Surg. cosmet. dermatol. (Impr.) ; 14: 2022;14:e20220152, jan.-dez. 2022.
Artigo em Português | LILACS | ID: biblio-1412346

RESUMO

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.


Assuntos
Humanos , Feminino , Criança , Dermatoses Faciais/diagnóstico , Hamartoma/diagnóstico , Imuno-Histoquímica , Dermatoses Faciais/patologia , Hamartoma/patologia
8.
Int. j. morphol ; 40(4): 990-994, 2022. ilus, tab
Artigo em Inglês | LILACS | ID: biblio-1405262

RESUMO

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.


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Brônquicas/patologia , Tumor Carcinoide/patologia , Hamartoma/patologia , Neoplasias Brônquicas/diagnóstico , Broncoscopia , Tumor Carcinoide/diagnóstico , Hamartoma/diagnóstico
9.
Medicentro (Villa Clara) ; 25(3): 522-528, 2021. graf
Artigo em Espanhol | LILACS | ID: biblio-1340200

RESUMO

RESUMEN El nevo lipomatoso cutáneo superficial es un nevo o hamartoma del tejido conectivo, idiopático, caracterizado por tumoraciones lobuladas del color de la piel, únicas o múltiples, con cierta predilección por la cintura pélvica; su aparición es poco frecuente. Histológicamente se destaca la presencia de células grasas maduras localizadas ectópicamente en la dermis. Se presentó un paciente de 40 años de edad con lesión en la piel de la región glútea derecha desde niño. Al examen dermatológico presentaba lesiones papulonodulares múltiples, de color de la piel, de tamaño variable, de consistencia blanda, localizadas en la nalga derecha. Se le realizó exéresis y biopsia de piel de lesión papulonodular de mayor tamaño, con diagnóstico histopatológico de nevo lipomatoso cutáneo superficial.


ABSTRACT A superficial cutaneous lipomatous nevus is an idiopathic connective tissue nevus or hamartoma characterized by single or multiple lobulated skin-colored tumors with a certain predilection for the pelvic girdle; its appearance is rare. Histologically, the presence of mature fat cells located ectopically in the dermis stands out. We present a 40-year-old male patient with a skin lesion of the right gluteal region since he was a child. On dermatological examination, he had multiple, skin-colored, papulonodular lesions of variable size and soft consistency located on the right buttock. Exeresis and skin biopsy of a larger papulonodular lesion were performed, with histopathological diagnosis of superficial cutaneous lipomatous nevus.


Assuntos
Hamartoma , Lipomatose , Nevo
10.
An. bras. dermatol ; 96(4): 487-489, July-Aug. 2021. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1285103

RESUMO

Abstract Neurofibromatosis is a common genodermatosis, whose diagnosis often involves the participation of a dermatologist. A case of a 38-year-old female patient with four café-au-lait macules and eleven neurofibromas on clinical examination is presented. Dermoscopy allowed the identification of Lisch nodules in the iris, bilaterally. The combination of these findings allowed the diagnosis of neurofibromatosis type 1, according to NIH criteria. Lisch nodules are melanocytic hamartomas of the iris, which must be evaluated through a visual augmentation method, usually employed in ophthalmology. Alternatively, dermoscopy can be used and contribute to the early diagnosis of neurofibromatosis type 1.


Assuntos
Humanos , Feminino , Adulto , Neurofibromatose 1/diagnóstico por imagem , Hamartoma , Iris , Manchas Café com Leite/diagnóstico , Dermoscopia
12.
Autops. Case Rep ; 11: e2021338, 2021. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1345357

RESUMO

Mucosal Schwann cell hamartoma (MSCH) is a rare benign neurogenic tumor characterized by pure S100p positive spindle cell proliferation. Most cases occur in the distal colon. Involvement of the gall bladder is exceedingly rare. There have been no reports of recurrence or a syndromic association with MSCH. Herein, we describe a case of MSCH of the gallbladder in a 55-year-old female patient with prior history of gastrointestinal neurofibromas who presented with abdominal pain. MR imaging revealed choledocholithiasis, gallbladder thickening, and marked biliary and pancreatic ductal dilation. The patient subsequently underwent cholecystectomy with choledochoduodenostomy. Histologic evaluation of the gallbladder showed diffuse expansion of the mucosa with S100p positive cells with spindly nuclei and indistinct cytoplasmic borders and diagnosis of MSCH of the gallbladder was rendered.


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Células de Schwann/patologia , Neoplasias da Vesícula Biliar/patologia , Hamartoma/patologia , Neurofibroma/patologia , Neuroma
13.
Autops. Case Rep ; 11: e2021315, 2021. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1285394

RESUMO

Oro-facial-digital syndrome is a group of rare heterogeneous hereditary disorders characterized by abnormalities of the oral cavity, face and digits, along with varying degrees of mental retardation. Currently, Oro-facial-digital syndrome has been classified into 14 types and two additional unclassified variants have been proposed. Amongst the various variants described, Oro-facial-digital syndrome type I is the most common. We report an interesting subclinical sporadic case of Oro-facial-digital syndrome type I in a 21-year-old female patient. Interestingly, our patient presented with a few novel hitherto unreported clinical findings like midline pits in the philtrum area and a hamartomatous proliferation of tissue in the anterior maxillary alveolar gingival region. This case report highlights the importance of prudent histopathological-clinical correlation, which can direct the flow of clinical investigations leading to the detection and diagnosis of unsuspected conditions as learned in this case. We would also like to emphasize that comprehensive examination of new born for structural abnormalities of the orofacial region is crucial to early diagnosis of syndromes and subsequent referral for further evaluation and management.


Assuntos
Humanos , Feminino , Adulto , Neoplasias Palatinas , Hamartoma , Fissura Palatina , Diagnóstico Precoce , Ciliopatias
14.
Rev. chil. dermatol ; 37(3): 84-87, 2021. ilus
Artigo em Espanhol | LILACS | ID: biblio-1417159

RESUMO

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.


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Dermatopatias/diagnóstico , Dermatopatias/patologia , Cisto Epidérmico/diagnóstico , Cisto Epidérmico/patologia , Couro Cabeludo , Dermatopatias/cirurgia , Cisto Epidérmico/cirurgia , Hamartoma/diagnóstico
16.
Odovtos (En línea) ; 22(1): 23-28, ene.-abr. 2020. graf
Artigo em Inglês | LILACS, BBO - Odontologia | ID: biblio-1091502

RESUMO

ABSTRACT Odontomas can be detected as complex or compound variants and they rarely show the histologic characteristics of both types together. The tumor commonly associated with malocclusion, eruption disturbances and pathological anomalies, but they seldom cause bony expansion. Early detection and management of odontoma with multidisciplinary approach pose an important role to prevent disturbances associated with this common odontogenic tumor. Here we report a rare case of an odontoma which show the features of both complex and compound types and also cause bony expansion, eruption failure in an 8-year-old boy.


RESUMEN Los odontomas pueden detectarse como variantes complejas o compuestas y rara vez muestran la característica histológica de ambos tipos juntos. El tumor comúnmente se asocia con maloclusión, alteraciones de la erupción y anomalías patológicas, pero rara vez causan expansión ósea. La detección temprana y el manejo del odontoma con abordaje multidisciplinario representan un papel importante para prevenir las alteraciones asociadas con este tumor odontogénico común. Aquí presentamos un caso raro de un odontoma que muestra las características de los tipos complejos y compuestos y también causa expansión ósea, falla de erupción en un niño de 8 años.


Assuntos
Humanos , Masculino , Criança , Odontoma/complicações , Má Oclusão , Hamartoma
17.
Rev. chil. radiol ; 26(1): 8-11, mar. 2020. ilus
Artigo em Espanhol | LILACS | ID: biblio-1115519

RESUMO

Resumen: El hamartoma fibroso de la infancia (FHI) es una lesión rara de tejidos blandos en niños con morfología trifásica característica. El principal problema con estas lesiones es el diagnóstico diferencial con otras masas de tejidos blandos, en particular sarcomas, que requieren un afrontamiento clínico y terapéutico diferente. Presentamos un caso de un infante de 10 meses con un crecimiento asintomático de una masa axilar que, tras realizarse angioresonancia magnética y biopsia se confirmó el diagnóstico de FHI.


Abstract: Fibrous hamartomas of childhood (FHC) are rare soft tissue lesions in infants and young children with characteristic three-phase morphology.The main problem with these lesions is differentiating it from other soft tissue masses, in particular sarcomas, which require a different clinical and therapeutic approach. We present a case of a 10-month-old infant with asymptomatic growth of a left axillary mass that, after magnetic resonance angiography and biopsy, the diagnosis of FHC was confirmed.


Assuntos
Humanos , Feminino , Lactente , Neoplasias de Tecidos Moles/diagnóstico por imagem , Hamartoma/diagnóstico por imagem , Fibrose , Ultrassonografia Doppler , Angiografia por Ressonância Magnética , Hamartoma/patologia
19.
Autops. Case Rep ; 9(4): e2019107, Oct.-Dec. 2019.
Artigo em Inglês | LILACS | ID: biblio-1023992
20.
Arch. argent. pediatr ; 117(5): 519-522, oct. 2019. ilus
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1054975

RESUMO

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.


Assuntos
Humanos , Feminino , Lactente , Rabdomioma/diagnóstico , Hamartoma/diagnóstico , Neoplasias do Ânus , Rabdomioma/cirurgia , Rabdomioma/patologia , Hamartoma/cirurgia , Hamartoma/patologia
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