Search

Introduction: Fibromatosis colli (FC) is a rare pseudotumor of the sternocleidomastoid muscle with an incidence of 0.4%, generally diagnosed using ultrasound between 2 and 4 weeks of age. This is an important entity considering the clinical concerns it causes due to its appearance as a cervical mass with torticollis. Few magnetic resonance imaging (MRI) descriptions of its appearance have been made, with the existing reported cases being sporadic. We aim to provide a thorough description of this paediatric entity. Materials and Methods: We conducted a retrospective study by searching our hospital’s database for previous cases of FC where an MRI had been performed. We found six cases of FC where an MRI had been performed. Of these cases, five out of six were contrast-enhanced. We examined the MRIs to be able to discern and describe the MRI characteristics of FC. Results: We found that FC presents a T1 signal isointense to the muscle, a T2 signal hyperintense to the muscle, a variable diffusion signal and a thick enhancing peripheral ring after contrast administration. Discussion: Our results match what has been reported in the literature to date regarding the MRI signal of FC, confirming previous reports. However, we provide new data regarding the characteristic appearance post-enhancement, which was previously unreported. Conclusion: The MRI characteristics of FC have rarely been described, with only a few isolated case reports in the medical literature. We review the current literature, describe the key MRI characteristics of the pathology, and provide the most thorough description to date.

Copyright of Paediatrics & Family Medicine / Pediatria i Medycyna Rodzinna is the property of Medical Communications Sp. z o.o. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Fibromatosis colli (FC) is a condition of benign fibrous tissue proliferation on one side of the sternocleidomastoid (SCM) muscle leading to focal or diffuse enlargement of the neck and is often clinically associated with torticollis. Here, we report a case of a 2-month-old infant who was healthy except for a bulky neck mass on the left side of the SCM muscle. The patient was diagnosed with FC using sonography, which is a favored imaging tool because it can differentiate FC from other causes of neck masses. Physiotherapy can significantly improve the majority of FC cases.

To evaluate the synergistic occurrence of facial asymmetry and craniofacial deformities in cases of Congenital muscular torticollis (CMT) and to assess the outcome of surgical correction on these deformities. Twenty-three cases of CMT presenting in ENT OPD from January 2015 to December 2019, 9 cases requiring surgical intervention were included. Facial asymmetry and craniofacial deformities were evaluated and quantified by measuring gaze angle, translational deformity and orbito-alar distance. All cases underwent a bipolar tenotomy using harmonic scalpel. In all cases on comparison with preoperative status there was significant improvement (p < 0.05) in surgical outcomes in terms of gaze angle, translational deformity and orbito-alar asymmetry. (1) There is overall excellent outcomes after surgery even when performed for the cases of neglected torticollis. (2) Timely intervention results in near normal improvement of craniofacial deformities. (3) Bipolar tenotomy using harmonic scalpel is safe, effective and complication-free method. [ABSTRACT FROM AUTHOR]

Background: Fibromatosis colli is a benign uncommon condition of infancy, usually manifested at the age of 2-4 weeks of life as a lump in the neck (mostly on the right side) or head tilt. It can be easily diagnosed by ultrasound (US). Case Presentation: A 3-day-old full-term male neonate was brought to the emergency department with a complaint of left side neck swelling. On examination, the child was normocephalic with open flat anterior fontanelle, normal head, throat and ears, the neck was not tilted with no apparent signs of trauma. Locally, a ½ cm mass which was firm, non-warm, and non-tender was felt on the left sternocleidomastoid without cervical lymphadenopathy. The patient was sent for US. Result: US examination showed a fusiform mass-like lesion within the left sternomastoid muscle, which showed similar echogenicity to the muscle and muscle striation within the lesion, with no abnormal cysts or suspicious features, suggestive of fibromatosis colli. Conclusion: Familiarity with fibromatosis colli is important to avoid extensive or invasive unneeded investigations and also to reduce anxiety of parents. [SJEMed 2022; 3(1.000): 110-112]

Fibromatosis Colli also known as congenital torticollis is a rare cause of benign cervical pseudotumor in neonates, consisting of benign fibrous tissue proliferation within the sternocleidomastoid muscle, resulting in a fusiform enlargement. The cause of fibrosis is unknown; however it could be linked to trauma during pregnancy or at the time of birth, resulting in hemorrhage and, subsequently, fibrosis. Ultrasound plays a necessary role in confirming this diagnosis and follow-up. We Report a case of Fibromatosis colli in a four-week old newborn who was diagnosed using ultrasonography and treated with physiotherapy.

Aims: The aim is to identify the epidemiological, diagnostic, therapeutic, evolutionary aspects, and risk factors related to the occurrence of this condition. Subjects and Methods: It was a retrospective and descriptive study of a series of 26 cases of fibromatosis colli collected over a period of 3 years (from January 1, 2017 to December 31, 2019). We studied the following parameters: frequency, age, sex, delay of consultation, motive of consultation, gravidity, parity, type of delivery, notion of birth trauma, birth weight, examination findings, ultrasound results, type of treatment, and evolutionary modalities. The data were collected from patients' files. The analysis was done on Excel 2016. Results: The frequency was 6.5 cases/year. The mean age was 2.1 months. The average delay of consultation was 6.3 weeks. A notion of obstetrical trauma was found in 16 cases (61.5%). Primiparity was noted in 15 cases (57.5%). Associated torticollis was noted in 03 cases. Cervical ultrasonography was performed in all cases (n = 26/26) enabling diagnostic confirmation. Surveillance was the main treatment (84.6%). After a mean follow-up of 20.8 months, evolution was favorable in the majority of patients. The average time of complete regression of the mass was 3.8 months. Conclusions: Rare condition of the newborn and infant for which the diagnosis is clinical and the confirmation is based on ultrasound. The management is simple and based on surveillance. The evolution is most often toward spontaneous regression.

High-resolution US is a practical, cost-effective modality to evaluate the musculoskeletal system in neonates. US can be performed portably in the neonatal intensive care unit so that the critically ill infant can be evaluated with minimal distress. Sonography is noninvasive and does not require sedation; typical questions that might require the use of MRI or CT in older children can be rapidly resolved with US. Dynamic imaging can be used in real time to stress joints and see how articular structures relate. Given the advantages of US within the neonatal population, it has been widely used to evaluate for neonatal fractures, congenital joint abnormalities, limb deficiencies as well as muscular and soft-tissue abnormalities. [ABSTRACT FROM AUTHOR]

Introduction: Fibromatosis colli (FC) is a rare pseudotumor of the sternocleidomastoid muscle with an incidence of 0.4%, generally diagnosed using ultrasound between 2 and 4 weeks of age. This is an important entity considering the clinical concerns it causes due to its appearance as a cervical mass with torticollis. Few magnetic resonance imaging (MRI) descriptions of its appearance have been made, with the existing reported cases being sporadic. We aim to provide a thorough description of this paediatric entity., Materials and Methods: We conducted a retrospective study by searching our hospital's database for previous cases of FC where an MRI had been performed. We found six cases of FC where an MRI had been performed. Of these cases, five out of six were contrast-enhanced. We examined the MRIs to be able to discern and describe the MRI characteristics of FC., Results: We found that FC presents a T1 signal isointense to the muscle, a T2 signal hyperintense to the muscle, a variable diffusion signal and a thick enhancing peripheral ring after contrast administration., Discussion: Our results match what has been reported in the literature to date regarding the MRI signal of FC, confirming previous reports. However, we provide new data regarding the characteristic appearance post-enhancement, which was previously unreported., Conclusion: The MRI characteristics of FC have rarely been described, with only a few isolated case reports in the medical literature. We review the current literature, describe the key MRI characteristics of the pathology, and provide the most thorough description to date., Competing Interests: The authors have no competing interests to declare., (Copyright: © 2024 The Author(s).)

Aims: The aim is to identify the epidemiological, diagnostic, therapeutic, evolutionary aspects, and risk factors related to the occurrence of this condition. Subjects and Methods: It was a retrospective and descriptive study of a series of 26 cases of fibromatosis colli collected over a period of 3 years (from January 1, 2017 to December 31, 2019). We studied the following parameters: frequency, age, sex, delay of consultation, motive of consultation, gravidity, parity, type of delivery, notion of birth trauma, birth weight, examination findings, ultrasound results, type of treatment, and evolutionary modalities. The data were collected from patients' files. The analysis was done on Excel 2016. Results: The frequency was 6.5 cases/year. The mean age was 2.1 months. The average delay of consultation was 6.3 weeks. A notion of obstetrical trauma was found in 16 cases (61.5%). Primiparity was noted in 15 cases (57.5%). Associated torticollis was noted in 03 cases. Cervical ultrasonography was performed in all cases (n = 26/26) enabling diagnostic confirmation. Surveillance was the main treatment (84.6%). After a mean follow-up of 20.8 months, evolution was favorable in the majority of patients. The average time of complete regression of the mass was 3.8 months. Conclusions: Rare condition of the newborn and infant for which the diagnosis is clinical and the confirmation is based on ultrasound. The management is simple and based on surveillance. The evolution is most often toward spontaneous regression. [ABSTRACT FROM AUTHOR]

Le fibromatosis colli ou pseudotumeur infantile du muscle sternocléidomastoïdien est une cause rare de masse cervicale bénigne du nouveau-né et du nourrisson. L´étude a concerné tous les patients admis pour une tuméfaction cervicale et chez qui le diagnostic de fibromatosis colli a été posé de Mars 2016 à Février 2020. Cinq patients ont été retenus. La tuméfaction cervicale est apparue au cours du premier mois de vie chez tous nos patients. Le diagnostic de fibromatosis colli a été posé à l´échographie. Tous les patients ont bénéficié d´un traitement conservateur. Le fibromatosis colli est une cause relativement rare de masse cervicale du nouveau-né et du nourrisson.

Fibromatosis colli or congenital torticollis is a rare pseudotumor of the sternocleidomastoid muscle of the newborn and infant which the mechanism of occurrence is controversial. The diagnosis is clinical. Ultrasounds make the diagnosis and eliminate other causes of torticollis. The evolution is towards spontaneous regression in a few months or with physiotherapy. We report the collected observations of two infants aged 8 and 12 weeks, respectively presenting a right and left lateral cervical mass. The clinical and ultrasound appearance strongly evoked the diagnosis. The follow-up was ultrasonographic with good clinical evolution and spontaneous regression in a few months.

Fibratosis colli, or infantile pseudotumor of the sternocleidomastoid muscle, is a rare cause of benign cervical mass in newborns and infants. This study involved all patients admitted with cervical swelling and diagnosed with colli fibromatosis from March 2016 to February 2020. Five patients were retained. In all patients cervical swelling occurred in the first month of life. No patient had had obstetric trauma. The diagnosis of fibromatosis colli was based on ultrasound. All patients received medical treatment. Fibratosis colli is a relatively rare cause of cervical mass in newborns and infants. [ABSTRACT FROM AUTHOR]

Fibromatosis colli is a rare, usually self-limiting condition caused by a benign tumor in the sternocleidomastoid muscle. The tumor occurs most often during infancy and can be clinically associated with torticollis. Accurate diagnosis of fibromatosis colli is important to avoid unnecessary invasive interventions. Radiographic imaging is fundamental to differentiating this benign tumor from other causes of neck masses/swelling in infants. In this article, we discuss the case of a 4-month old child who presented with a head tilt and had imaging that favored a diagnosis of fibromatosis colli. [ABSTRACT FROM AUTHOR]

Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be accompanied by musculoskeletal anomalies such as muscular hypotonia and small hands and feet. Mutations in the KMT2A gene have only recently been identified as the cause of Wiedemann-Steiner syndrome; therefore, only 16 patients from 15 families have been described, and new phenotypic features continue to be added. In this report, we describe 2 newly identified patients with Wiedemann-Steiner syndrome who presented with variable severity. One girl exhibited developmental dysplasia of the hip and fibromatosis colli accompanied by other clinical features, including facial dysmorphism, hypertrichosis, patent ductus arteriosus, growth retardation, and borderline intellectual disability. The other patient, a boy, showed severe developmental retardation with automatic self-mutilation, facial dysmorphism, and hypertrichosis at a later age. Exome sequencing analysis of these patients and their parents revealed a de novo nonsense mutation, p.Gln1978*, of KMT2A in the former, and a missense mutation, p.Gly1168Asp, in the latter, which molecularly confirmed the diagnosis of Wiedemann-Steiner syndrome. [ABSTRACT FROM AUTHOR]

Neglected or undiagnosed congenital muscular torticollis (CMT) in adults is quite rare, although it is the third most common congenital deformity in the newborn [1]. When left untreated at an early age, deficits in lateral and rotational range of motion can occur along with irreversible facial and skeletal deformities that develop over time. Subtle cases can go unnoticed until early adulthood, with predominant fibrotic replacement in the sternocleidomastoid (SCM) making physical therapy and chemodenervation mostly ineffective. Surgical intervention, in these cases, can prove effective in alleviating pain, improving function and cosmesis [2].We report an update on a previously reported case, misdiagnosed as cervical dystonia, which had undergone partial myectomy of the anterior belly of the SCM with some relief of symptoms but not total resolution after the correct diagnosis of fibromatosis colli [3].

Le fibromatosis colli (FC) est pseudotumeur rare du muscle sterno-cléido-mastoïdien (SCM), à l'origine d'un torticolis dit congénital chez le nouveau-né ou le nourrisson. Le mécanisme étio-pathogénique de sa survenue est sujet à controverse. Son diagnostic fait appel à l'échographie qui permet de mettre en évidence un épaississement caractéristique du muscle. Nous rapportons deux cas diagnostiqués par l'échographie avec pour un cas une notion de malposition intra-utérine et pour l'autre cas une absence totale de malposition et de traumatisme obstétrical qui pourtant est évoqué comme élément du mécanisme de survenue du FC.

Neglected or undiagnosed congenital muscular torticollis in adults is quite rare, although it is the third most common congenital deformity in the newborn (1). When left untreated at an early age, deficits in lateral and rotational range of motion can occur along with irreversible facial and skeletal deformities that develop over time. Subtle cases can go unnoticed until early adulthood, with predominant fibrotic replacement in the sternocleidomastoid (SCM) making physical therapy and chemodenervation mostly ineffective. Surgical intervention, in these cases, can prove effective in alleviating pain, improving function and cosmesis (2). We report an update on a previously reported case, misdiagnosed as cervical dystonia, which had undergone partial myectomy of the anterior belly of the SCM with some relief of symptoms but without total resolution after the correct diagnosis of fibromatosis colli (3). [ABSTRACT FROM AUTHOR]

Fibromatosis colli or sternocleidomastoid tumour is a rare cause of benign neck mass in infants. It is a self limiting fibroblastic lesion usually presenting with torticollis and a history of birth trauma.It is one of the few causes in which Fine Needle Aspiration Cytology (FNAC) is indicated in a neonate to confirm the diagnosis and to differentiate it from other congenital, inflammatory and neoplastic causes. FNAC provides a rapid, cost-effective, reliable, non invasive method of diagnosis resulting in conservative management of these lesions. We present two interesting cases of neck swelling in infants where FNAC performed as the first diagnostic procedure was instrumental in establishing the diagnosis of fibromatosis colli thus avoiding unnecessary surgical intervention.

Sternocleidomastoid pseudoumor of infancy or congenital torticollis is a self-limiting pseudotumor of infancy presenting with neck mass and restriction of neck movement. It is a benign proliferation of fibrous tissue with in the sternocleidomastoid muscle leading to focal or diffuse enlargement of muscle. Its timely and correct diagnosis can be done by a simple and noninvasive technique of fine-needle aspiration cytology. It's a prompt and reliable diagnostic procedure, more importantly, to differentiate it from other neck lesions of childhood. Here, we represent a case of such tumor with cytological features and spontaneous resolution. [ABSTRACT FROM AUTHOR]

Sterocleidomastoid tumor of infancy (SCMI), also known as fibromatosis colli of infancy, is a benign, self limiting disease of new born characterised by its classical history and clinical presentation of firm to hard fusiform mass in the lower and middle portion of sternocleidomastoid. SCMI often appears during early perinatal period between second to fourth weeks of life. A well recognized association between SCMI and primiparous birth, breech presentation, prolonged difficult labor and forceps deliveries is found. Cytology shows spindle shaped mature fibroblastic cells scattered singly along with degenerated and multinucleated giant muscle cells in a clean background. It is important to differentiate this lesion from different forms of infantile fibromatosis. Fine-needle aspiration cytology (FNAC), as a time saving, rapid and reliable diagnostic procedure, has got bigger role to play in reassurance of anxious parents, guiding for conservative management and avoiding surgery.

Le fibromatosis colli (FC) est pseudotumeur rare du muscle sterno-cléido-mastoïdien (SCM), à l'origine d'un torticolis dit congénital chez le nouveau-né ou le nourrisson. Le mécanisme étio-pathogénique de sa survenue est sujet à controverse. Son diagnostic fait appel à l'échographie qui permet de mettre en évidence un épaississement caractéristique du muscle. Nous rapportons deux cas diagnostiqués par l'échographie avec pour un cas une notion de malposition intra-utérine et pour l'autre cas une absence totale de malposition et de traumatisme obstétrical qui pourtant est évoqué comme élément du mécanisme de survenue du FC. [ABSTRACT FROM AUTHOR]

Fibromatosis colli is a rare disease related to congenital muscular torticollis that responds well to therapy if diagnosed and treated early. Gray-scale ultrasonography is used for diagnosis and follow-up, but with limitations. A novel technique, real-time elastography, might prove helpful for evaluating the response to therapy. A case is presented of fibromatosis colli diagnosed with sonography and real-time elastography in the first month of life. The baby was treated with physiotherapy for 3 months, and therapy was ended on the basis of real-time elastographic findings. Real-time elastography has been shown to be useful in the diagnosis and follow-up to physiotherapy for fibromatosis colli. [ABSTRACT FROM AUTHOR]

Fibromatosis colli é uma patologia benigna, rara, que se apresenta como uma massa cervical, aparecendo durante as primeiras semanas de vida e freqüentemente associada a torcicolo congênito. É uma lesão fibroblástica que acomete o músculo esternocleidomastóideo, com medidas variando entre 1 e 3cm. Relatamos os casos de três lactentes, dois do sexo masculino e um do feminino, de 30 dias de vida, que apresentavam massa cervical à direita, na projeção do músculo esternocleidomastóideo, medindo, cada, 1,5cm no maior eixo. Foram realizadas punções aspirativas por agulha fina (PAAF), cujos esfregaços mostraram moderado número de fibroblastos isolados e também células multinucleadas, compatíveis com células musculares degeneradas. Nenhum dos casos apresentou processo inflamatório. Os achados citológicos associados ao quadro clínico permitem diagnóstico definitivo e acurado desta patologia, evitando-se uma biópsia cirúrgica, além de proporcionar um início precoce do tratamento conservador que levará à resolução da doença na maioria dos casos.Fibromatosis colli is a benign and rare disorder presented as a neck mass, appearing during the first weeks of life and it is often associated with congenital torticollis. It is a fibroblastic lesion that affects the sternocleidomastoid muscle, and varies in size from 1 to 3cm. We report three cases of neonates, two males and one female, 30 days-old, presenting a right cervical mass, in the sternocleidomastoid, measuaring 1,5cm each one. The major cytologic finding was loose benign fibroblasts and multinucleated cells consistent with degerating skeletal muscle fibers. None of the cases presented inflammatory cells. The cytological findings together with the clinical picture allow a definitive and accurate diagnosis of this entity, avoiding surgical biopsy, providing early initiation of conservative treatment, which will lead to resolution of the disease in the majority of the cases.

Abstract: Congenital muscular torticollis is a condition in which the sternocleidomastoid muscle is shortened on the involved side, leading to an ipsilateral tilt of the head and a contralateral rotation of the face and chin. Most of these patients present in infancy and are successfully treated with physical therapy. Occasionally, patients present in childhood at which time conservative management is rarely successful. Here we present a child with torticollis who was successfully managed with a unipolar release of the sternocleidomastoid. We then review the epidemiology, proposed etiologies, and various treatment options for torticollis and their rates of success. [Copyright &y& Elsevier]