RESUMO Introdução: Os tumores desmóides (TD) são neoplasias raras com maior incidência em mulheres jovens. Métodos: Trata-se de uma análise retrospectiva, em um único centro, de pacientes com TD. As variáveis foram idade, sexo, biópsia, tratamento e recorrência. A sobrevida livre de doença (SLD) foi calculada pelo método de Kaplan-Meier. Resultados: Foram avaliados 242 pacientes, com idade média de 34 anos, 70,7% mulheres, 44,4% com origem no tronco/abdômen e 54,5% com tamanho > 5 cm. A cirurgia foi realizada em 70,2%, 31% com margem negativa e apenas 57% com biópsia prévia. A taxa de recorrência foi de 38% e a SLD de 1, 2 e 5 anos foi de 75,3%, 64,2% e 57,8%, respectivamente. O tamanho (p = 0,018) e a localização do tumor no dorso (p = 0,001), nas extremidades (p = 0,003) e na pelve (p = 0,003) foram relacionados a uma maior taxa de recidiva. Conclusão: Nossos dados reforçam a necessidade de coletar dados da prática do cenário real e a importância da conscientização da TD e da educação médica sobre o comportamento da TD e a melhor abordagem, devido às altas taxas de cirurgia e ao elevado número de pacientes tratados sem biópsia. Nível de Evidência III; Estudo Comparativo Retrospectivo. Introdução (TD jovens Métodos Tratase Trata se retrospectiva centro sexo (SLD KaplanMeier. KaplanMeier Kaplan Meier. Meier Kaplan-Meier Resultados 24 3 707 70 7 70,7 444 44 4 44,4 troncoabdômen tronco abdômen 545 54 54,5 cm 702 70,2% 31 57 prévia 38 1 753 75 75,3% 642 64 64,2 578 8 57,8% respectivamente p 0,018 0018 0 018 0,001, 0001 0,001 , 001 0,001) 0,003 0003 003 recidiva Conclusão abordagem III Retrospectivo 70, 44, 54, 70,2 75,3 6 64, 57,8 0,01 01 000 0,00 00 75, 57, 0,0 0,

ABSTRACT Introduction: Desmoid Tumors (DT) are rare neoplasms with higher incidence in younger women. Methods: Retrospective, single-center analysis of patients with DT. Variables were age, sex, biopsy, treatment and recurrence. The disease-free survival (DFS) was calculated with the Kaplan-Meier method. Results: 242 patients were evaluated, mean age was 34 years, 70.7% women, 44.4% originated in the trunk/abdomen and 54.5% had size > 5cm. Surgery was performed in 70.2%, 31% with negative margin and only 57% with previous biopsy. Recurrence rate was 38% and 1,2,5-year DFS was 75.3%, 64.2%, 57.8%, respectively. Size (p = 0.018) and tumor location in the dorsum (p = 0.001), extremities (p = 0.003) and pelvis (p = 0.003) were related to higher relapse rate. Conclusion: our data reinforces the need to gather data from real world practice and the importance of awareness of DT and medical education about DT behavior and best approach due to the high rates of surgery and elevated number of patients treated without biopsy. Level of Evidence III; Retrospective Comparative Study. Introduction (DT women Methods singlecenter single center sex biopsy recurrence diseasefree disease free (DFS KaplanMeier Kaplan Meier method Results 24 evaluated 3 years 707 70 7 70.7 444 44 4 44.4 trunkabdomen trunk abdomen 545 54 5 54.5 5cm cm 702 2 70.2% 31 57 38 1,2,5year 125year year 1,2,5 1 753 75 75.3% 642 64 64.2% 578 8 57.8% respectively p 0.018 0018 0 018 0.001, 0001 0.001 , 001 0.001) 0.003 0003 003 Conclusion III Study 70. 44. 54. 70.2 5year 125 1,2, 75.3 6 64.2 57.8 0.01 01 000 0.00 00 12 1,2 75. 64. 57. 0.0 1, 0.

Abstract A 36-year-old female patient seeks her primary care physician for a 2-year history of right back pain associated with diminished strength in her left arm. The patient is referred to our hospital following the findings of a computed tomography scan which shows a nodular, oval-shaped, soft tissue density mass located in the upper third of the right thoracic wall in intimate relation with the intercostal muscles. Above it, in close proximity with the right pulmonary apex and located in the thoracic inlet, there is another mass with the same tomographic characteristics. Surgical resection is conducted and final pathology results are consistent with multicentric, low grade fusocellular neoplasia. Later genetic testing by Sanger sequencing detects the mutation S45F in the CTNNB1 gene, confirming the diagnosis of multifocal extra-abdominal desmoid fibromatosis.

Resumo Paciente do sexo feminino de 36 anos recorre ao seu médico de família por dorsalgia associada a sensação de diminuição de força no braço esquerdo com 2 anos de evolução. É encaminhada para o nosso hospital na sequência de tomografia computadorizada torácica que mostra massa nodular com densidade de tecidos moles no terço superior da parede torácica direita e em íntima relação com os músculos intercostais. Acima desta lesão, na dependência do inlet torácico, encontramos outra massa de características semelhantes. É realizada ressecção cirúrgica e estudo anatomopatológico que é consistente com neoplasia fusocelular de baixo grau, multicêntrica. Estudo genético efectuado posteriormente por sequenciação de Sanger detecta a mutação S45F no gene CTNNB1, confirmando o diagnóstico de fibromatose extra-abdominal multifocal.

Abstract Fibromatosis colli is the most severe presentation of congenital muscular torticollis and a relatively rare cause of neck swelling in neonates and infants. We present a case of a 6 weeks old male infant who was admitted to the emergency department with a mass in the left lateral-cervical region. Two soft tissue ultrasounds were performed showing multiple adenopathy and one week later a new ultrasound was performed by a radiologist experienced in pediatric imaging that was suggestive of fibromatosis colli. Ultrasound is the diagnosis imaging modality of choice if there is any doubt in the diagnosis. It shows focal or diffuse enlargement of the sternocleidomastoid muscle in a fusiform configuration.

Resumo A Fibromatosis colli é a apresentação mais grave do torcicolo muscular congénito e uma causa rara de tumefação cervical em recém-nascidos e lactentes. Apresentamos o caso de um lactente do sexo masculino com 6 semanas de vida que deu entrada no serviço de urgência com uma massa na região látero-cervical esquerda. Foram realizadas duas ecografias de partes moles que mostraram múltiplas adenopatias e após uma semana foi realizada uma nova ecografia por um radiologista experiente em pediatria que era sugestiva de fibromatosis colli. A ecografia é a modalidade de diagnóstico de escolha se existir dúvida no diagnóstico. Normalmente mostra aumento focal ou difuso do músculo esternocleidomastóideo em configuração fusiforme.

Abstract Winged scapula is usually caused by neurological injuries to both the spinal nerve and the long thoracic nerve. Its presence as a result of a ventral scapular tumor makes initial diagnosis difficult. We present the case of a young woman with limited external shoulder rotation, no known traumatic history, and images consistent with a soft tissue lesion dependent on subscapular muscle aponeurosis, which was confirmed by biopsy as a desmoid tumor. Although it is a benign, self-limiting tumor, it has an alarmingly high rate of relapse after resection, so many treatments are available, and many teams choose to closely monitor the patient’s prognostic factors and functional limitations, obtaining satisfactory outcomes and, in some series, superior to those of surgical treatment.

Resumen La escápula alada suele producirse por lesiones neurológicas tanto del nervio espinal como del nervio torácico largo. La aparición a causa de un tumor ventral de la escápula dificulta su diagnóstico inicial. Presentamos el caso de una mujer joven, con limitación para la rotación externa del hombro, sin antecedentes traumáticos conocidos, evolución progresiva e imagen compatible con una lesión de partes blandas dependiente de la aponeurosis del músculo subescapular confirmada por biopsia como un tumor desmoide. Aunque se trata de un tumor benigno y autolimitado, tiene una inquietante alta tasa de recidivas después de la resección, por lo que se dispone de numerosos tratamientos y muchos grupos optan por hacer un seguimiento médico estrecho de los factores pronósticos y las limitaciones funcionales del paciente, con lo que obtienen resultados satisfactorios y, en algunas series, superiores a los del tratamiento quirúrgico.

ABSTRACT Objectives: This study aims to report our experience with Clostridium Histolyticum collagenase (CCH) to support the importance of its clinical use and assess its clinical efficacy, complications, and recurrences. Methods: This prospective observational study of 66 patients with a 2-year follow-up. Patients with an extension lag major of 20° at the metacarpophalangeal joint (MPJ) and/or proximal interphalangeal joint (PIPJ) were included. We collected data on demographic and anamnestic details, MPJ and PIPJ contracture degrees, DASH score, complications, and recurrences. Results: The mean pre-injection contracture was 34° for MPJ and 31° for PIPJ. At the 2-year follow-up, the mean contracture for the MPJ and PIPJ were respectively 3° and 14.5°. The mean DASH score decreased from 21.8 before injection to 10,4 after 2 years. The disease recurrence occurred in 34.8% of the patients, all with PIPJ contracture. The main complication was skin breakage (25.7%). Conclusion: The CCH injections remain a consistent option in treating DD; withdrawal from the European market deprives surgeons and patients of low invasiveness and safe tool for treating DD. Level of evidence IV, Therapeutic study investigating treatment results, Case series. Objectives (CCH efficacy complications recurrences Methods 6 2year year followup. followup follow up. up follow-up 20 (MPJ andor or (PIPJ included details degrees Results preinjection pre 34 31 followup, up, 3 145 14 5 14.5° 218 21 8 21. 104 10 4 10, years 348 34.8 25.7%. 257 25.7% . 25 7 (25.7%) Conclusion DD IV results series 1 14.5 34. 25.7 (25.7% 14. 25. (25.7 (25. (25 (2 (

RESUMO Objetivos: O objetivo deste estudo é relatar nossa experiência com Clostridium Histolyticum colagenase (CCH) para apoiar a importância de seu uso clínico e para avaliar sua eficácia clínica, complicações e recidivas. Métodos: Estudo observacional prospectivo de acompanhamento por 2 anos em 66 pacientes com um atraso de extensão maior de 20° na articulação metacarpofalângica (MPJ) e/ou articulação interfalângica proximal (PIPJ). Foram coletados dados sobre detalhes demográficos e anamnésicos, graus de contração da MPJ e PIPJ, escore de DASH, complicações e recidivas. Resultados: A média da contração pré-injeção foi de 34° para a MPJ e 31° para a PIPJ. Com 2 anos de acompanhamento, a contração média para a MPJ e PIPJ foi de 3° e 14,5° respectivamente. A pontuação média do DASH diminuiu de 21,8 antes da injeção para 10,4 após 2 anos. A recorrência da doença ocorreu em 34,8% dos pacientes, todos com contração de PIPJ. A principal complicação foi a quebra da pele (25,7%). Conclusão: As injeções de CCH continuam sendo uma opção consistente no tratamento do DD; a retirada do medicamento do mercado europeu priva os cirurgiões e pacientes de uma ferramenta pouco invasiva e segura para o tratamento do DD. Nível de evidência IV, Estudo terapêutico que investiga os resultados do tratamento, série de casos. Objetivos (CCH clínica recidivas Métodos 6 20 (MPJ eou ou . (PIPJ) anamnésicos Resultados préinjeção pré 34 31 3 145 14 5 14,5 respectivamente 218 21 8 21, 104 10 4 10, 348 34,8 25,7%. 257 25,7% 25 7 (25,7%) Conclusão DD IV casos (PIPJ 1 14, 34, 25,7 (25,7% 25, (25,7 (25, (25 (2 (

Abstract Introduction. Desmoid tumors are soft tissue lesions, histologically benign, rare and with great local aggressiveness and lack of metastatic potential. They are closely related to traumatic or surgical history such as caesarean section. Their treatment is generally surgical. Methods. We present a case series of three patients operated on in our center during the year 2020. Their history is reviewed and their type of treatment is presented. Results. In all our patients, surgical history was found (two caesarean sections and one resection of a dysgerminoma). The treatment used was surgical resection with free margins and mesh repair of the defect. Conclusions. Desmoid tumor is a rare pathology; its diagnosis is made by imaging studies, and confirmed by histology. It is important to make a differential diagnosis with sarcoma. Radical surgery remains the treatment of choice, although some authors propose conservative treatment.

Resumen Introducción. Los tumores desmoides son lesiones de los tejidos blandos, histológicamente benignas, poco frecuentes y con gran agresividad local y carencia de potencial metastásico. Se relacionan estrechamente con antecedentes traumáticos o quirúrgicos, como la cesárea, y su tratamiento generalmente es quirúrgico. Métodos. Presentamos una serie de tres pacientes intervenidas en nuestro centro durante el año 2020. Se revisan sus antecedentes y se describe su tratamiento. Resultados. En todas nuestras pacientes se encontró algún antecedente quirúrgico, dos cesáreas y una resección de un disgerminoma. El tratamiento empleado fue la resección quirúrgica con márgenes libres y reparación del defecto mediante malla. Conclusiones. El tumor desmoide es una patología poco frecuente, su diagnóstico se realiza mediante exámenes imagenológicos y se confirma con el estudio histológico; es importante hacer el diagnóstico diferencial con el sarcoma. La cirugía radical sigue siendo el tratamiento de elección, aunque algunos autores proponen el tratamiento conservador.

Resumen Introducción: La Fibromatosis Colli es un tumor fibroso congénito benigno que se desarrolla en el músculo esternocleidomastoideo. Se manifiesta clínicamente por hinchazón del cuello y restricción de movimiento del cuello (tortícolis). Objetivo: Describir los aspectos diagnósticos y terapéuticos fundamentales de la Fibromatosis de Colli o Tortícolis Muscular Congénita. Caso Clínico: Se presenta un caso de neonato de sexo femenino de 21 días de nacida mediante parto en presentación podálica. Al examen físico se encuentra masa en cuello de 1,5*2 cm indolora e inclinación de la cabeza hacia la derecha, diagnosticado con ultrasonografía y tomografía de cuello contrastado, sin otros hallazgos. Conclusiones: La Fibromatosis de Colli es una patología que pasa desapercibida en el examen posparto del recién nacido. Es importante que el personal médico la identifique, evitando así complicaciones futuras, como asimetría craneofacial, escoliosis cervical y torácica o alteraciones oculares importantes.

Abstract Introduction: Fibromatosis Colli is a benign congenital fibrous tumor, which develops in the sternocleidomastoid muscle. Its clinical manifestations encompass neck swelling and torticollis (restriction of neck movements). Objective: The aim of this report is to describe the fundamental diagnostic and therapeutic aspects of Fibromatosis Colli or Congenital Muscular Torticollis. Clinical Case: A case of a 21-day-old female neonate is presented, with the presence of a right cervical mass (1.5*2 cm) and the head tilted to the right without other associated symptoms found in the physical examination. A relevant antecedent is breech presentation during the birth. The diagnosis is obtained through ultrasonography and contrasted neck tomography. Conclusions: Fibromatosis Colli is a pathology that could be unnoticed in the postpartum examination of the newborn. It is important that medical personnel identify it in order to avoid future complications, such as craniofacial asymmetry, cervical and thoracic scoliosis, or important ocular alterations.

Resumen: La fibromatosis mesentérica es un subtipo profundo de tumor desmoide (TD), un tumor benigno de origen fibroblástico localmente agresivo por su tendencia a infiltrar los tejidos adyacentes. Son raros, esporádicos y pueden asociarse con el síndrome de Gardner. El tratamiento de elección es la resección completa, evitando la recurrencia local. Comunicamos el caso clínico de una paciente con fibromatosis intrabdominal mesentérica única, bien circunscripta, que simulaba por la imagenología una masa de origen pelviano.

Summary: Mesenteric fibromatosis is a deep sub-type of desmoid tumors consisting of a benign tumor of fibroblastic origin which is locally aggressive given its tendency to infiltrate adjacent tissues. They are unusual and sporadic, and may be associated to Gardner’s Syndrome. Complete resection is the treatment of choice, avoiding local recurrence. The study reports the clinical case of a patient with intra-abdominal sporadic mesenteric fibromatosis, well circumscribed that appeared to be a pelvic mass in MR imaging.

Resumo: A fibromatose mesentérica é um subtipo profundo de tumor desmóide (DT); é um tumor benigno de origem fibroblástica que é localmente agressivo devido à sua tendência a infiltrar tecidos adjacentes. São raros, esporádicos e podem estar associados à síndrome de Gardner. O tratamento de escolha é a ressecção completa, evitando recidiva local. Relatamos o caso clínico de uma paciente com fibromatose mesentérica intra-abdominal única e bem circunscrita que simulava uma massa de origem pélvica na imagem.

Abstract Ovarian fibromatosis refers to a rare benign phenomenon where there is a tumor-like ovarian enlargement up to 6-12cm in size due to diffuse ovarian fibrosis and it is more frequently seen unilaterally. It is characterized by a proliferation of collagen-producing spindle cells surrounding normal ovarian structures, thus causing thickening of the superficial cortex and enlargement of the ovary. It affects predominantly young women and common clinical manifestations include abdominal pain, menstrual irregularities, hirsutism and virilization. Ovarian fibromatosis may mimic malignant ovarian tumors due to similar presentation and radiological findings. The “black garland sign” refers to a marked T2 hypointense thick rim of fibrous tissue surrounding the ovary in the setting of ovarian fibromatosis on magnetic resonance imaging (MRI).

ABSTRACT: Desmoplastic fibroma (DF) is a benign, locally aggressive, intraosseous neoplasm of very low frequency - especially in young children - and is considered the bony counterpart of desmoid-type fibromatosis. Treatments ranging from enucleation and curettage to resection of the affected bone segment have been described, due to its high recurrence rate. However, a consensus has been established to avoid such recurrences, which consists in performing a segmental resection with safety margins. In this case report, it was decided to carry out a conservative treatment due to the age of the patient, being the youngest case reported in the literature with a maxillary DF and, in this way, avoiding mutilations and the need for bone reconstruction at such a young age. Also considering their growth status, generation of potential asymmetries or abnormal facial development that could generate aesthetic and functional sequelae, altering their quality of life.

RESUMEN: El fibroma desmoplasico (FD) es una neoplasia intraósea benigna, localmente agresiva, de muy baja frecuencia - especialmente en niños pequeños - y es considerada la contraparte ósea de la fibromatosis tipo desmoide. Se han descrito tratamientos que van desde la enucleación y legrado hasta la resección del segmento óseo afectado, debido a su alta tasa de recidiva. Sin embargo, se ha establecido un consenso para evitar dichas recidivas, que consiste en realizar una resección segmentaria con márgenes de seguridad. En este reporte de caso se decidió realizar un tratamiento conservador debido a la edad de la paciente, siendo el caso más joven reportado en la literatura con un FD maxilar y, de esta manera, evitar mutilaciones y necesidad de reconstrucción ósea a tan corta edad, considerando también su estado de crecimiento, generación de potenciales asimetrías o desarrollo facial anormal que podría generar secuelas estéticas y funcionales, alterando su calidad de vida.

Resumen La fibromatosis desmoide de ubicación retroperitoneal es una neoplasia rara, de crecimiento lento, recurrente, sin metástasis. En el tratamiento de las fibromatosis en la actualidad se propone la vigilancia activa, sin embargo, por la localización retroperitoneal, existe el riesgo de mortalidad y perder la opción terapéutica de un manejo activo. El tratamiento establecido es la resección quirúrgica completa o incompleta. Se revisa el tema a propósito del caso en un varón de 48 años, oriundo de la selva central del Perú, sin antecedente traumático, con una fibromatosis retroperitoneal gigante. Se propuso someterse a resección incompleta seguida de adyuvancia con irradiación.

Abstract Desmoid-type fibromatosis retroperitoneal is a rare, slow-growing, recurrent neoplasm without metastasis. The treatment of fibromatosis is currently proposed by active surveillance, however, due to the retroperitoneal location, there is a risk of mortality and losing the therapeutic option of active management. Being the established treatment, the complete or incomplete surgical resection. The subject is reviewed regarding the case in a 48-year-old man, a native of the central Peruvian jungle, without a traumatic history, with giant retroperitoneal fibromatosis. Being proposed to undergo incomplete resection followed by adjuvant with irradiation.

Abstract Desmoid-type fibromatosis is a rare neoplastic tumor of fibroblastic proliferation that arises from muscle, fascia or aponeurotic complexes. Although usually benign, it is capable of significant local morbidity resulting from infiltration of surrounding structures. The etiology of desmoid-type fibromatosis is multifactorial since genetic, endocrine, and physical factors play an important role in its pathogenesis. Prognosis is mainly related to the anatomical site. We report a case of an intra-abdominal desmoid-type fibromatosis, arising from the retroperitoneum, diagnosed at 15 weeks of gestation and resected during pregnancy. This case demonstrates de diagnostic and management challenge posed by an abdominal mass during pregnancy.