Résumé
Objective: To investigate the clinicopathological characteristics, immunophenotype, molecular genetics and differential diagnoses of fibrocartilaginous lipomas which consist of adipose tissue, fibrocartilage and fibrous elements. Methods: The clinicopathological features, immunohistochemical profiles and molecular profiles in six cases of fibrocartilaginous lipomas diagnosed at Foshan Traditional Chinese Medicine Hospital, Fudan University Shanghai Cancer Center, the Fifth Affiliated Hospital of Zhengzhou University and the Fourth Affiliated Hospital of Harbin Medical University from January 2017 to February 2022 were included. The follow-up information, diagnosis and differential diagnoses were evaluated. Results: There were three males and three females with a median age of 53 years (range 36-69 years) at presentation. Tumors were located in the extremities, the head and neck region and trunk; and presented as painless masses that were located in the subcutaneous tissue or deep soft tissue. Grossly, three cases were well defined with thin capsule, one case was well circumscribed without capsule, two cases were surrounded by some skeletal muscle. The tumors were composed of fatty tissue with intermingled gray-white area. The tumors ranged from 1.50-5.50 cm (mean 2.92 cm). Microscopically, the hallmark of these lesions was the complex admixture of mature adipocytes, fibrocartilage and fibrous element in varying proportions; the fibrocartilage arranged in a nodular, sheet pattern with some adipocytes inside. Tumor cells had a bland appearance without mitotic activity. Immunohistochemical analysis using antibodies to SMA, desmin, S-100, SOX9, HMGA2, RB1, CD34, adipopholin was performed in six cases; the fibrocartilage was positive for S-100 and SOX9, adipocytes were positive for S-100, adipopholin and HMGA2; CD34 was expressed in the fibroblastic cells, while desmin and SMA were negative. Loss of nuclear RB1 expression was not observed. Other genetic abnormalities had not been found yet in four cases. Follow-up information was available in six cases; there was no recurrence in five, and one patient only underwent biopsy of the mass. Conclusions: Fibrocartilaginous lipoma is a benign lipomatous tumor with mature adipocytes, fibrocartilage and fibrous elements. By immunohistochemistry, they show the expression of fat and cartilage markers. No specific molecular genetics changes have been identified so far. Familiarity with its clinicopathological features helps the distinction from its morphologic mimics.
Sujets)
Mâle , Femelle , Humains , Adulte , Adulte d'âge moyen , Sujet âgé , Desmine/analyse , Chine , Lipome/anatomopathologie , Fibroblastes/anatomopathologie , Protéines S100/analyse , Diagnostic différentiel , Fibrocartilage/anatomopathologie , Marqueurs biologiques tumoraux/analyseRésumé
OBJECTIVE@#To investigate the value of using MDM2 amplification probe and DDIT3 dual-color, break-apart rearrangement probe fluorescence in situ hybridization (FISH) technique in the diagnosis of liposarcoma.@*METHODS@#In the study, 62 cases of liposarcoma diagnosed in Peking University First Hospital from January 2015 to December 2019 were analysed for clinicopathological information. Of these 62 cases of liposarcoma, all were analysed for MDM2 amplification and 48 cases were analysed for DDIT3 rearrangement using a FISH technique. Our study aimed to evaluate the status of MDM2 and DDIT3 by FISH in liposarcoma and correlate it with diagnosis of different subtypes of liposarcoma. The subtypes of liposarcoma were classified according to the FISH results, combined with the relevant clinicopathological features.@*RESULTS@#The patients aged 31-89 years (mean: 59 years) with a 1.75:1 male to female ratio. Histologically, there were 20 cases of atypical lipomatous tumour/well-differentiated liposarcoma (ALT/WDLPS), 26 cases of dedifferentiated liposarcoma (DDLPS), 13 myxoid liposarcoma (MLPS) and 3 pleomorphic liposarcoma (PLPS). Tumors with DDLPS (23/26) and WDLPS (8/20) were localized retroperitoneally, while both tumours of MLPS and PLPS were localized extra-retroperitoneally, and the difference of sites among the four subtypes of liposarcoma was statistically significant (P < 0.05). Histologically, varied mucoid matrix could be observed in the four subtypes of liposarcoma, and the difference was statistically significant (P < 0.05). MDM2 gene amplification was demonstrated in all cases of ALT/WDLPS and DDLPS (100%, 20/20 and 26/26 respectively); DDIT3 gene rearrangement was noted only in MLPS (100%, 13/13); most cases of DDLPS (96.2%, 25/26) and ALT/WDLPS (83.3%, 5/6, 6 cases selected for detection) demonstrated the picture of amplification of the DDIT3 telomeric tag. According to the instructions of DDIT3 break-apart rearrangement probe, the 5' telomere probe and 3' centromere probe spanned but did not cover the DDIT3 gene itself, on the contrary, the 5' telomere probe covered the CDK4 gene, while the DDIT3 and CDK4 gene were located adjacent to each other on chromosome, therefore, when the amplification signal appeared on the telomeric tag of the DDIT3 rearrangement probe, it indeed indicated the CDK4 gene amplification rather than the DDIT3 gene rearrangement. Then the 10 cases with DDIT3 telomeric tag amplification were selected for CDK4 and DDIT3 gene amplification probe FISH tests, and all the cases showed CDK4 gene amplification (100%, 10/10) and two of the 10 cases demonstrated co-amplification of CDK4 and DDIT3 (20%, 2/10); DDIT3 polysomy detected by DDIT3 gene rearrangement probe was found in 1 case of DDLPS and 2 cases of PLPS (66.7%, 2/3) with morphology of high-grade malignant tumour and poor prognosis.@*CONCLUSION@#Our results indicate that a diagnosis of different subtype liposarcoma could be confirmed based on the application of MDM2 and DDIT3 FISH, combined with clinicopathological findings. It is also noteworthy that atypical signals should be correctly interpreted to guide correct treatment of liposarcomas.
Sujets)
Mâle , Femelle , Humains , Hybridation fluorescente in situ/méthodes , Kinase-4 cycline-dépendante/métabolisme , Liposarcome/anatomopathologie , Lipome/anatomopathologie , Amplification de gène , Facteur de transcription CHOP/génétique , Protéines proto-oncogènes c-mdm2/métabolismeRésumé
RESUMEN: Los lipomas son neoplasias benignas formadas por tejido adiposo maduro y que representan los tumores mesenquimales más frecuentes. Los lipomas gigantes se definen en relación a un tamaño mayor de 10 centímetros o un peso mayor a 1 kilogramo. Su presentación a nivel de cabeza y el cuello es infrecuente. Se caracterizan por tener un crecimiento lento, progresivo, deformante y asintomático. Es necesaria la realización de pruebas de imagen para su correcta localización anatómica y establecer relaciones con las estructuras vecinas. El tratamiento de elección es la escisión quirúrgica de la masa. La planificación pre-quirúrgica en este tipo de casos debe ser minuciosa para garantizar la conservación tanto de la función como de la estética cervicofacial. Se reporta el caso de una mujer de 50 años que presenta una tumoración gigante cervicofacial de 9 años de evolución, diagnosticada como lipoma, con sus características clínicas, imageneológicas, histopatológicas y su manejo terapéutico.
ABSTRACT: Lipomas are benign neoplasms formed by mature adipose tissue and represent the most frequent mesenchymal tumors. Giant lipomas are defined in relation to a size greater than 10 centimeters or a weight greater than 1 kilogram. Their presentation at head and neck level is infrequent. They are characterized by having a slow, progressive, deforming and asymptomatic growth. Imaging tests are necessary for their correct anatomical location and the establishment of relationships with neighboring structures. The treatment of choice is surgical excision of the mass. Pre-surgical planning in this type of case must be meticulous to guarantee the preservation of both function and cervicofacial aesthetics. The case of a 50-year-old woman with a giant cervicofacial tumor of 9 years of evolution, diagnosed as lipoma, with its clinical, imaging, histopathological characteristics, and therapeutic management is reported.
Sujets)
Humains , Femelle , Adulte d'âge moyen , Tumeurs de la tête et du cou/chirurgie , Tumeurs de la tête et du cou/imagerie diagnostique , Lipome/chirurgie , Lipome/imagerie diagnostique , Tumeurs de la tête et du cou/anatomopathologie , Lipome/anatomopathologieRésumé
O lipoma é uma neoplasia benigna mesenquimal de rara ocorrência em cavidade bucal, com maior predileção, principalmente pela mucosa bucal, em indivíduos acima da quarta década de vida. Clinicamente o lipoma se caracteriza por um aumento de volume flácido à palpação, de coloração amarelada ou normal de mucosa, com crescimento lento e geralmente assintomático. Histologicamente o lipoma apresenta presença de tecido adiposo maduro com células adiposas de aparência semelhante à gordura normal adjacente, bem circunscrito e podendo apresentar uma fina cápsula fibrosa. O tratamento do lipoma é cirúrgico e consiste na excisão da lesão. Assim, o objetivo do presente trabalho é relatar dois casos de lipoma em cavidade oral localizados em região de mucosa bucal tratado cirurgicamente. Paciente de 50 anos, sexo feminino, melanoderma, cursando com aumento de volume em região de mucosa bucal esquerda com 05 meses de evolução. Ao exame clínico foi possível avaliar lesão em região de mucosa bucal esquerda de aproximadamente 02 cm de diâmetro, flácido à palpação e coloração normal de mucosa. Foi realizada biopsia excisional sob anestesia local e posterior enucleação da lesão. A paciente evolui com 06 meses de pós-operatório sem evidências clínicas de recidiva da lesão ou complicações associadas. O lipoma é de difícil ocorrência em região intra-oral e mesmo quando tratada de maneira conservadora através da enucleação lesão possui baixas taxas de recidiva(AU)
Lipoma is a benign mesenchymal neoplasm of rare occurrence in the oral cavity, with a higher predilection, mainly by the buccal mucosa, in individuals above the fourth decade of life. Clinically lipoma is characterized by an increase in flaccid volume at palpation, yellowing or normal mucosa, with slow and usually asymptomatic growth. Histologically, lipoma has the presence of mature adipose tissue with adipose cells similar in appearance to adjacent normal fat, well circumscribed and may have a thin fibrous capsule. The treatment of lipoma is surgical and involves the excision of the lesion. Thus, the objective of the present study is to report two cases of lipoma in the oral cavity located in a region of buccal mucosa treated surgically. A 50-year-old female patient, melanoderma, with an increase in volume in the region of the left buccal mucosa with 05 months of evolution. At the clinical examination it was possible to evaluate lesion in the region of the left buccal mucosa of approximately 02 cm in diameter, flaccid to palpation and normal mucosa staining. An excisional biopsy was performed under local anesthesia and subsequent enucleation of the lesion. The patient ev olves at 06 months postoperatively without clinical evidence of recurrence of the lesion or associated complications. Lipoma is difficult to perform in the intra-oral region and even when treated conservatively through the enucleation lesion has low rates of relapse(AU)
Sujets)
Humains , Femelle , Adulte d'âge moyen , Lipome , Lipome/chirurgie , Lipome/diagnostic , Tumeurs de la bouche , Lipome/anatomopathologie , Bouche/traumatismes , Bouche/anatomopathologie , Muqueuse de la boucheSujets)
Humains , Femelle , Jeune adulte , Tumeurs des tissus mous/anatomopathologie , Lipome/anatomopathologie , Tumeurs des tissus mous/chirurgie , Tumeurs des tissus mous/imagerie diagnostique , Tomodensitométrie , Échographie , Adipocytes/anatomopathologie , Tissu sous-cutané/anatomopathologie , Maladies rares , Biopsie guidée par l'image , Lipome/chirurgie , Lipome/imagerie diagnostiqueRésumé
Los lipomas de laringe son tumores benignos de crecimiento lento, pero pueden producir síntomas graves como disnea inspiratoria, apneas del sueño y disfagia. Se describe el caso clínico de un paciente con un lipoma extenso de laringe e hipofaringe que consultó por disfagia y disnea inspiratoria intermitente, y que fue tratado con éxito mediante un abordaje transoral con microscopio asistido con cauterio y láser de CO2. (AU)
Laryngeal lipomas are benign, slow-growing tumors, but they can produce severe symptoms such as inspiratory dyspnea, sleep apnea, and dysphagia. We describe the clinical case of a patient with an extensive lipoma of the larynx and hypopharynx who consulted for dysphagia and intermittent inspiratory dyspnea, and who was successfully treated by a transoral approach with microscope and assisted with cautery and CO2 laser. (AU)
Sujets)
Humains , Mâle , Femelle , Adulte d'âge moyen , Tumeurs du larynx/imagerie diagnostique , Lipome/diagnostic , Apnée , Troubles de la déglutition , Tumeurs du larynx/chirurgie , Tumeurs du larynx/complications , Tumeurs du larynx/étiologie , Dyspnée , Lipome/chirurgie , Lipome/complications , Lipome/étiologie , Lipome/physiopathologie , Lipome/anatomopathologieRésumé
Abstract Mammary hibernomas are extremely rare benign tumors composed of brown fat cells, with only five cases previously reported in the literature. We report the case of a 42- year-old female patient with a painless growing mass in her right breast. A partial mastectomy was performed, and the diagnosis of hibernoma was confirmed by the histological features and the immunohistochemical profile. Although hibernoma is a benign tumor, its main differential diagnoses include aggressive lesions, making the accurate diagnosis essential to provide adequate care to the patient.
Resumo Hibernomas mamários são tumores benignos extremamente raros compostos por gordura marrom, com apenas cinco casos previamente relatados na literatura. Relatamos o caso de uma paciente do sexo feminino, de 42 anos de idade, apresentando- se com uma massa indolor em sua mama direita. Realizou-se uma mastectomia parcial e o diagnóstico de hibernomamamário foi confirmado pelo padrãomorfológico e pelo perfil imuno-histoquímico. Embora hibernomas constituamneoplasias benignas, seus principais diagnósticos diferenciais incluem lesões agressivas, sendo o diagnóstico acurado extremamente importante para o correto manejo clínico do paciente.
Sujets)
Tumeurs du sein/chirurgie , Tumeurs du sein/anatomopathologie , Maladies rares/chirurgie , Maladies rares/anatomopathologie , Lipome/chirurgie , Lipome/anatomopathologieRésumé
Abstract: Liposarcomas correspond to the most common histological subtype of soft tissue sarcomas. They can be subdivided into: well differentiated or atypical lipoma, undifferentiated, myxoid, round, and pleomorphic cells. Atypical lipomas are the most prevalent and usually appear as asymptomatic softened tumors. They are locally aggressive but rarely lead to distant metastases. The diagnosis of this tumor is based on the imaging and histopathologic findings. Treatment consists of excision surgery with complete tumor removal. It has a good prognosis due to the low percentage of distant metastases. We report a rare case of giant atypical lipoma as well as the adopted therapy and evolution.
Sujets)
Humains , Mâle , Adulte , Tumeurs des tissus mous/anatomopathologie , Lipome/anatomopathologie , Liposarcome/anatomopathologie , Tumeurs des tissus mous/chirurgie , Tumeurs des tissus mous/diagnostic , Biopsie , Fesses/anatomopathologie , Diagnostic différentiel , Lipome/chirurgie , Lipome/diagnostic , Liposarcome/chirurgie , Liposarcome/diagnosticRésumé
Dentro de las neoplasias más frecuentes de tejidos blandos mesenquimáticos, el lipoma es el de mayor frecuencia. A nivel de cabeza y cuello, su incidencia es inferior, siendo de 2 a 4 por ciento. En la cavidad bucal, la ubicación más usual es en la lengua. Histológicamente, se observan adipocitos separados por tabiques fibrosos. El diagnóstico diferencial se realiza con tumor de células granulares, neurofibroma, fibroma traumático y malformaciones de las glándulas salivales. En el siguiente artículo se describirá un caso clínico con su técnica quirúrgica.
Among the most frequent neoplasms of soft mesenchymal tissues, lipoma is the most frequent. At head and neck level, the incidence is lower, being 2 to 4 percent. In the oral cavity, the most usual location is on the tongue. Histologically, adipocytes are seen separated by fibrous septa. The differential diagnosis is made with granular cell tumor, neurofibroma, traumatic fibroma and malformations of the salivary glands. The following article will describe a clinical case with its surgical technique.
Sujets)
Humains , Femelle , Adulte d'âge moyen , Lipome/chirurgie , Lipome/diagnostic , Lipome/anatomopathologie , Tumeurs de la langue/classification , Diagnostic différentiel , Lipome/imagerie diagnostique , Procédures de chirurgie maxillofaciale et buccodentaire/méthodes , Radiographie panoramiqueRésumé
ABSTRACT Lipomas are a growth of fat cells in a fibrous capsule. They are most common in noncancerous tissues. Lipoma of rectum is uncommon and the most common sit of its origin is the perinanal region. Rarely they could cause rectal bleeding. In this study, we have reported a 53-yrs old man who had been referred to the hospital with symptoms of abdominal pain, rectal bleeding and the problem in bowel movement. Rectal prolapsed with solitary rectal were observed during the clinical observation. Colonoscopy, CT-Scan and MRI were performed for the patient and the results showed a mass suggestive to lipoma which was located in recto/sigmoid region. He underwent the surgery. Intra operative findings showed several soft masses in rectum and a large mass with dimension of 10 cm × 10 cm in sigmoid. Low anterior resection was performed for him and pathology diagnosis was lipoma.
RESUMO Lipomas são um crescimento de adipócitos em uma cápsula fibrosa. Essas formações são mais comuns em tecidos não cancerosos. O lipoma do reto é de rara ocorrência, e o local mais comum para sua origem é a região perianal. Raramente essas formações podem causar sangramento retal. Nesse estudo, descrevemos um paciente, homem, 53 anos, que foi encaminhado ao hospital com sintomas de dor abdominal, sangramento retal e problemas nos movimentos intestinais. Ao exame clínico, foram observados prolapso retal com solitária do recto. Foi realizada uma colonoscopia e obtidos estudos de TC e IRM; os resultados demonstraram uma massa sugestiva de lipoma, localizada na região retossigmoide. O paciente foi encaminhado à cirurgia. Os achados intraoperatórios demonstraram várias massas macias no reto e uma grande massa que media 10 cm × 10 cm no sigmoide. Foi realizada a ressecção anterior e o diagnóstico da patologia foi lipoma.
Sujets)
Humains , Mâle , Adulte d'âge moyen , Tumeurs du rectum/anatomopathologie , Prolapsus rectal/diagnostic , Lipome/anatomopathologieRésumé
Introducción: los lipomas son tumores mesenquimales benignos que consisten esencialmente en adipocitos maduros, poco comunes en la cavidad oral comparada con otras superficies corporales. Lesiones de gran tamaño son relativamente raras y el labio inferior no es un sitio muy habitual. Se caracteriza por ser una lesión de crecimiento lento que puede alcanzar grandes dimensiones y son generalmente asintomáticos. Objetivo: caracterizar un caso de lipoma gigante en el labio inferior con algunas características clínicas e histopatológicas de esta lesión. Presentación del caso: se describe un caso de lipoma gigante que afecta el labio inferior de un paciente de 55 años de edad, de sexo masculino con una evolución asintomática de ocho años. Se realizó una exéresis completa y el examen histopatológico reveló un lipoma. Conclusiones: el paciente está bajo seguimiento y sin signos de recidiva. Las características clínicas y microscópicas fueron de gran importancia para el diagnóstico(AU)
Introduction: lipomas are benign mesenchymal tumors which consist essentially of mature adipocytes, and are relatively uncommon in the oral cavity comparing with other body surfaces. Large lesions are relatively rare and lower lip is not a very usual site. This is characterized as a slow growing lesion which might reach large dimensions and are usually asymptomatic. Objective: to show a case of giant lipoma affecting lower lip and to comment on its clinical and microscopic features. Case report: in this study, we describe a case of giant lipoma affecting lower lip of a 55 years-old male with an asymptomatic evolution of eight years. We performed a complete excision, and the histopathological examination revealed a lipoma. Conclusions: actually, the patient is under follow up without signs of recurrence. The clinical and microscopic characteristics were very important for the diagnosis(AU)
Sujets)
Humains , Mâle , Adulte d'âge moyen , Tumeurs de la lèvre/chirurgie , Lipome/diagnostic , Lipome/anatomopathologieRésumé
Abstract Lipomas are very common benign slow-growing soft tissue neoplasms composed of mature adipose tissue mostly diagnosed in the fifth decade of life. These tumors rarely present in the oral cavity, representing less than approximately 5% of all benign mouth tumors. They are usually less than 2cm in size and etiology remains unclear. We report a young male patient presenting with a giant lipoma in the buccal mucosa. Histopathology revealed a large area of mature fat cells consistent with conventional lipoma and an area of the mucosal lining of the lesion suggestive of morsicatio buccarum. In the present article, we emphasize the clinicopathological features and differential diagnosis of the disease.
Sujets)
Humains , Mâle , Adulte , Tumeurs de la bouche/anatomopathologie , Lipome/anatomopathologie , Muqueuse de la bouche/anatomopathologie , Tumeurs de la bouche/chirurgie , Tumeurs des glandes salivaires/anatomopathologie , Maladies rares , Diagnostic différentiel , Lipome/chirurgie , Muqueuse de la bouche/chirurgieRésumé
INTRODUÇÃO: Lipomas são os tumores benignos mesenquimais mais comuns. Entretanto, são pouco frequentes na face, principalmente o tipo considerado gigante, derivado do coxim adiposo bucal. A literatura é escassa e provavelmente a sua incidência é subestimada. MÉTODO: Relato do caso de tratamento cirúrgico de lipoma gigante bucal e temporal recidivado, e revisão da literatura no Pubmed na língua inglesa e na Revista Brasileira de Cirurgia Plástica. RESULTADOS: O tumor, anatômica e morfologicamente, corresponde ao coxim adiposo bucal, foi totalmente retirado pelo acesso facial e temporal, sem sequelas ao nervo facial. Foram encontrados 31 casos relatados de lipoma de origem do coxim adiposo bucal, entretanto, vários casos foram encontrados e relatados sob outras denominações. DISCUSSÃO: O coxim adiposo bucal é maior e mais complexo que se conhecia, e várias patologias se derivam deste, sendo importante o diagnóstico diferencial do lipoma simples com o de células fusiformes e com o lipossarcoma, devido a sua extrema semelhança. CONCLUSÃO:Nas lesões lipomatosas da face, a possível origem no coxim adiposo bucal deve ser considerada. Um estudo amplo dessas lesões com a finalidade de uniformizar a terminologia e de determinar a sua real incidência deve ser realizado.
INTRODUCTION: Lipomas are the most common benign mesenchymal tumors. Nevertheless, they are infrequent in the face, particularly giant lipomas, which are derived from the buccal fat pad. The literature regarding these tumors is scarce and their incidence is likely underestimated. METHODS: We present a case report of surgical treatment of a relapsed giant buccal and temporal lipoma and review the related English literature in Pubmed and that in the Brazilian Journal of Plastic Surgery. RESULTS: The tumor, which anatomically and morphologically corresponded to the buccal fat pad, was completely excised by facial and temporal access without sequelae to the facial nerve. A total of 31 reported cases of lipoma originating from the buccal fat pad were found; however, several were found and reported under other names. DISCUSSION: The buccal fat pad is larger and more complex than assumed, and several pathologies are derived thereof, making the differential diagnosis of simple lipoma with fusiform cell lipoma and liposarcoma difficult due to their extreme similarities. CONCLUSION: In lipomatous lesions of the face, the possible origin in the buccal fat pad must be considered. An extensive study of these lesions with the purpose of standardizing the terminology and determining its real incidence must be performed.
Sujets)
Humains , Mâle , Adulte , Histoire du 21ème siècle , Plaies et blessures , Adénolipomatose symétrique à prédominance cervicale , Présentations de cas , Tissu adipeux , Revue de la littérature , Procédures de chirurgie maxillofaciale et buccodentaire , Face , Lipome , Lipomatose , Bouche , Récidive tumorale locale , Tumeurs , Plaies et blessures/chirurgie , Plaies et blessures/complications , Adénolipomatose symétrique à prédominance cervicale/chirurgie , Adénolipomatose symétrique à prédominance cervicale/anatomopathologie , Tissu adipeux/chirurgie , Tissu adipeux/croissance et développement , Procédures de chirurgie maxillofaciale et buccodentaire/méthodes , Face/chirurgie , Face/anatomopathologie , Lipome/chirurgie , Lipome/anatomopathologie , Lipomatose/chirurgie , Lipomatose/anatomopathologie , Bouche/anatomie et histologie , Bouche/chirurgie , Bouche/croissance et développement , Bouche/physiopathologie , Récidive tumorale locale/chirurgie , Récidive tumorale locale/anatomopathologie , Tumeurs/chirurgieRésumé
Una pseudocola se define como una lesión con forma de cola en la región lumbosacrococcigea que no es una cola real, sino que, por el contrario, es causada por alguna enfermedad subyacente. El lipoma perineal es una de las condiciones que puede presentarse como una pseudocola. El lipoma perineal congénito es una enfermedad rara, pero un lipoma perineal congénito sin otras anomalías es, en particular, extremadamente raro. Reportamos un caso de un lipoma perineal congénito aislado, sin malformaciones asociadas, que se presenta como una pseudocola y además incluimos una revisión bibliográfica de la condición.
A pseudotail is defined as a tail-like lesion in the lumbosacrococcygeal region that is not a real tail, but on the contrary, is caused by an underlying disease. Lipoma is one of the conditions that may present as a pseudo-tail. Congenital lipoma is a rare disease and in particular, isolated congenital perineal lipoma without other anomalies is extremely rare. Herein we report a case of congenital isolated perineal lipoma presenting as a pseudo-tail and also include a literature review of the condition.
Sujets)
Humains , Mâle , Enfant d'âge préscolaire , Périnée , Tumeurs cutanées/diagnostic , Tumeurs cutanées/anatomopathologie , Lipome/diagnostic , Lipome/anatomopathologie , Malformations cutanées , Tumeurs cutanées/imagerie diagnostiqueRésumé
Paciente do sexo feminino, saudável, meia-idade e com história prolongada de massas com crescimento lento localizadas bilateralmente e simetricamente nos membros superiores e inferiores, próximas às principais articulações. Exames de imagem e patológicos após excisão das massas revelaram massas constituídas por gordura subcutânea normal. Não houve evidências de lipomas bem-circunscritos. Na revisão de literatura, destacaram-se diversos distúrbios lipo-hipertróficos, com possível apresentação simétrica. As características das afecções encontradas não eram, porém, totalmente concordantes com as características de nossa paciente. Embora não de modo absoluto, a doença que mais estreitamente se assemelhou ao caso foi lipodistrofia simétrica rara, conhecida como doença de Madelung. Dos 150 casos relatados, em apenas 3 foi descrito comprometimento dos membros inferiores, como ocorreu em nosso caso. Este relato apresenta descrição detalhada do caso, seu manejo e seguimento no pós-operatório. Os tipos distintos de lipodistrofias simétricas também são discutidos.
A middle-aged healthy woman who presented with longstanding history of slow growing masses located bilaterally and symmetrically on the upper and lower extremities closed to major joints. Imaging and pathology tests following excision of masses revealed normal subcutaneous fat. There was no evidence of well-circumscribed lipomas. A review of the literature identified a number of lipohypertrophic disorders, which may be present in a symmetrical fashion. The characteristics of the disorders, however, did not fully agree with characteristics observed in our patient. Although not absolute, the closest disease found to fit our case is a rare symmetrical lipodystrophy known as Madelung's disease. Of 150 reported cases, only 3 described involvement of lower extremities as seen in our case. We report a detailed description of a case, its management and post-operative follow-up. Different types of symmetrical lipodytrophies are also discussed.
Sujets)
Humains , Femelle , Adulte , Histoire du 21ème siècle , Chirurgie plastique , Adénolipomatose symétrique à prédominance cervicale , Imagerie diagnostique , Littérature de revue comme sujet , Tissu adipeux , Membre inférieur , Graisse sous-cutanée , Métabolisme lipidique , Lipodystrophie , Lipome , Lipomatose , Chirurgie plastique/méthodes , Adénolipomatose symétrique à prédominance cervicale/chirurgie , Adénolipomatose symétrique à prédominance cervicale/anatomopathologie , Imagerie diagnostique/méthodes , Tissu adipeux/physiologie , Tissu adipeux/anatomopathologie , Membre inférieur/chirurgie , Membre inférieur/anatomopathologie , Graisse sous-cutanée/chirurgie , Graisse sous-cutanée/croissance et développement , Graisse sous-cutanée/métabolisme , Métabolisme lipidique/physiologie , Lipodystrophie/chirurgie , Lipome/chirurgie , Lipome/anatomopathologie , Lipomatose/chirurgie , Lipomatose/anatomopathologieRésumé
El tumor fibromixoma lipoesclerosante óseo (TFMLE) fue descrito inicialmente por Ragsdale en 1986, como una lesión fibroósea polimórfica de hueso con una mezcla de elementos histológicos incluyendo lipoma, fibroxantoma, mixoma, mixofibroma, necrosis grasa, osificación isquémica, áreas de displasia fibrosa y rara vez cartílago o cambios quísticos. La localización más frecuentemente descrita es en la región intertrocantérica del fémur. Es un hallazgo en pacientes asintomáticos o bien estar asociado a fractura. Radiológicamente es una lesión lítica, geográfica, de margen bien definido y habitualmente esclerótico, en algunos casos puede observarse mineralización en el interior de la lesión o un cierto grado de expansión en el contorno. Se ha descrito la estrecha relación del TFMLE con la displasia fibrosa por las características histológicas y la presencia de una mutación Gsα, otra hipótesis de la etiología de la lesión incluye la reacción de la displasia fibrosa a la fatiga por estrés.
The bone liposclerosing myxofibrous tumor (LSMFT) was initially described by Ragsdale in 1986 as a polymorphic fibroosseous bone lesion with a mix of histologic elements that include lipoma, fibroxanthoma, myxoma, myxofibroma, fat necrosis, ischemic ossification, areas of fibrous dysplasia, and infrequent presence of cartilage or cystic changes. The most frequently reported location is the intertrochanteric area of the femur. Radiologically it is a lytic, geographic lesion, with well-defined margins and usually sclerotic. In some cases findings include mineralization inside the lesion or a certain degree of expansion to the contour. The close relationship between LSMFT and fibrous dysplasia has been described based on the histologic characteristics and the presence of the Gsα mutation. Another hypothesis of the etiology of the lesion is the reaction of fibrous dysplasia to stress.