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Fibromatosis is a rare benign tumor arising from the myofibroblast. It is a locally aggressive tumor with a high rate of recurrence but no malignant potential. Fibromatosis can occur anywhere in the body. It is rare in the head-and-neck region and even rarer in children. We report a case occurring in the neck of a child. A 7-year-old boy presented with progressive left-sided, posterior neck swelling of 4 years and 3 years history of the loss of ability to vocalize. Imaging studies revealed a mass at the base of the skull and posterior neck on the left, with the preserved surrounding bone. The patient had a complete excision of the mass and histology confirmed juvenile fibromatosis. Juvenile fibromatosis of the head-and-neck region is a rare benign tumor of childhood. Tissue biopsy confirms the diagnosis. The recurrence rate is high following wide local excision.

R Molluscum fibrosum,” a variant of the neurofibromaosis disorders, was first described by Murray in 873. However, in 1973 it was Kitano et al who enamed the disease “juvenile hyaline fibromatosis” JHF). There have been approximately 70 cases of JHF eported in the literature to date. JHF is a rare autosomal dominant systemic disease f the connective tissue, typically presenting in childood. In 2002, Rahman et al performed a genetic nalysis of 2 families with JHF and linked JHF to a utation on chromosome 4q21. The exact underlying athogenesis of JHF is yet to be identified, but some nvestigators have proposed it results from an abnor

Resume Introduction La fibromatose hyaline juvenile et la hyalinose systemique infantile sont deux maladies autosomiques recessives rares, liees a des mutations du gene codant la proteine de morphogenese capillaire de type 2. Elles sont caracterisees par l’accumulation de depots hyalins cutaneo-articulaires pour la premiere, cutaneo-articulaires et visceraux pour la seconde. Nous rapportons le cas d’une enfant presentant un tableau de fibromatose hyaline juvenile. Observation Une enfant âgee de deux ans developpait progressivement un tableau associant hypertrophie gingivale, lesions cutanees papulonodulaires et atteinte osteo-articulaire. Le diagnostic propose de fibromatose hyaline juvenile etait confirme par l’histologie et l’etude genetique. L’enfant developpait egalement des troubles digestifs conduisant a discuter le diagnostic de hyalinose systemique infantile. Discussion Ce cas illustre l’eventail phenotypique de la fibromatose hyaline juvenile. Le diagnostic doit etre evoque le plus rapidement possible afin de prevenir les sequelles esthetiques et fonctionnelles.

The infantile myofibromatosis is the most common fibrous tumor of infancy. One may find solitary lesions of dermal, visceral, musculoskeletal and subcutaneous tissues. Multiple lesions without visceral involvement generally take a benign course. Because the lesion is commonly known only to pathologists, infantile myofibromatosis is often misdiagnosed and underreported. Therefore we present a review of the pathology and symptoms of infantile myofibromatosis together with a case report of a solitary lesion of bone.

We describe here a three year-old girl with classic clinical and histological features of juvenile hyaline fibromatosis. We found a history of similar skin findings in her eldest sister, in whom the disorder took a rapidly progressive and fatal course in the second year of life, suggesting either a very severe form of juvenile hyaline fibromatosis, or the possibility of infantile systemic hyalinosis. The similarities and differences between these two described types of hyalinoses have been reviewed in reference to the present report.

Lipofibromatosis is a recently described, benign neoplasm that presents in the pediatric population [J.F. Fetsch, M. Miettinen, W.B. Laskin, M. Michal, F.M. Enzinger, A clinicopathologic study of 45 pediatric soft tissue tumors with an admixture of adipose tissue and fibroblastic elements, and a proposal for classification as lipofibromatosis, Am. J. Surg. Pathol. 24 (2000) 1491-1500]. It is a rare soft tissue tumor histologically distinct from other fibromatoses such as juvenile fibromatosis, fibrous hamartoma of infancy, calcifying aponeurotic fibroma, and lipoblastoma. Distinguishing histopathologic features of lipofibromatosis include abundant and disorganized adipose lobules traversed by bundles of spindled fibroblast-like cells. It most commonly presents in the extremities. We present a case involving a young girl, which we believe represents the first report of lipofibromatosis involving the neck.

Resumen – La fibromatosis hialina juvenil (FHJ) es una displasia mesenquimatosa de herencia autosomica recesiva que aparece en la infancia precoz o en la adolescencia, de la que se han descrito tan solo unos 65 casos. Se caracteriza clinicamente por lesiones cutaneas, hipertrofia gingival, contracturas en flexion de las grandes articulaciones y lesiones oseas. Las lesiones de la piel consisten en multiples tumores, comunmente localizados en cuero cabelludo y alrededor de la nariz y pequenas papulas perladas y placas localizadas en tronco, menton, orejas y alrededor de los orificios nasales. La FHJ se caracteriza por una sintesis anomala de colageno que se deposita como material hialino en el tejido conjuntivo de la piel, encias y menos frecuentemente en los huesos y en las articulaciones. Presentamos el caso de una nina de 15 meses de edad con severas contracturas articulares y lesiones cutaneas caracteristicas de la FHJ.

Infantile myofibromatosis is the most frequent form of infantile fibromatoses. One or more tumours appear in the skin, subcutaneous tissue, muscle, bones and viscera. The disease is usually present at birth and characteristically tumours are prone to spontaneous regression. The prognosis depends on the presence of visceral involvement. We present the case of a newborn female with congenital multiple fibromatosis with cutaneous and osseous lesions, but without visceral involvement.

Desmoid tumours are benign fibrous neoplasms originating from musculoaponeurotic structures throughout the body. These tumours are rare in the mandible and the literature is limited to case reports and retrospective reviews and to date there is no agreed protocol for the management of these lesions in the paediatric mandible. The definition, diagnosis and management of juvenile fibromatosis still presents a challenge to the modern surgeon, radiologist and pathologist. We describe a case of paediatric mandibular infantile fibromatosis which presented a diagnostic dilemma, and review the currently available literature.

Bei dem 2. Kind konsanguiner turkischer Eltern (unauffallige Familienanamnese, Schwangerschaft, Geburt und Neonatalperiode) wurde in der 6. Lebenswoche eine Arthrogryposis multiplex diagnostiziert. Intensive Krankengymnastik besserte die Kontrakturen nicht. Bis zum Alter von 20 Monaten entwickelten sich die folgenden Symptome: perianale filiforme Tumoren, multiple subkutane Tumoren, schmerzhafte Kontrakturen der Extremitaten, Gingivahyperplasie, periorale Dermatitis, grobe Gesichtszuge, bilaterale Tibiaosteolysen. Die histologische Untersuchung von Gingiva, subkutanen und perianalen Tumoren ergab ein gleichartiges Bild: ein fibroses Gewebe aus kleinen Blutgefasen und Bindegewebszellen in einer homogenen PAS-positiven Matrix. Klinik und Histologie fuhrten zu der Diagnose der juvenilen hyalinen Fibromatose. Diskussion: Bisher wurden ca. 40 Falle dieser autosomal-rezessiv vererbten Erkrankung beschrieben. Die Prognose quoad vitam ist gut, die mentale Entwicklung normal. Die schmerzhaften Kontrakturen und die durch ausgepragte Rezidivneigung und Grosenzunahme gekennzeichneten Tumoren sind nur operativ therapierbar, eine enge interdisziplinare Zusammenarbeit ist erforderlich. Differentialdiagnostisch sind Mukopolysaccharidosen auszuschliesen.

The tumor that was previously designated as a fibroma of the palms and soles in young children was named in 1953 by Keasbey as juvenile aponeurotic fibroma. It has subsequently become apparent that this lesion affects a much wider age range than other forms of juvenile fibromatosis and may occur in young adults and, rarely, in older adults. In view of the wide age range of patients, the term juvenile aponeurotic fibroma was changed to aponeurotic fibroma and calcifying aponeurotic fibroma. The lesion has been documented in the orthopedic literature as a slow-growing, benign, painless tumor with a predilection for the distal portions of the extremities in young children. However, there have been no maxillofacial cases in the literature. The following report describes a case of calcifying aponeurotic fibroma arising in the medial pterygoid muscle.

The term 'fibromatosis' is used to denote two main pathological entities: juvenile fibromatosis and adult fibromatosis. It is also possible to distinguish between superficial fibromatosis of the aponeurosis and deep fibromatosis of the muscle-aponeurosis. Histopathological findings have indicated that fibromatosis is an invasive neoformation of fibromatous connective tissue involving adjacent structures. It does not metastasize, though recurrence rates vary. Treatment is based on either excision of the mass, or radiotherapy and chemotherapy if the condition is inoperable. We describe a case of fibromatosis of the mandible in a young girl. The growth was excised completely and she was still disease-free four years later.

Resume La fibromatose hyaline juvenile (FHJ) est une maladie rare transmise sur le mode autosomique recessif. Observation. Un garcon de 14 ans, issu d'un mariage consanguin au premier degre et ayant deux freres presentant le meme tableau clinique, a ete hospitalise pour des tumeurs cutanees apparues a l'âge de 5 ans. Il s'agit de tumeurs cutanees molles, mobiles et parfois douloureuses de diametre variable (plus de 2 cm), siegeant au niveau de l'abdomen, du thorax, du nez, des oreilles, du scalp et associees a une hypertrophie gingivale. Il existait egalement des lesions osteoarticulaires sous forme d'infiltrations nodulaires avec deformation entrainant un blocage en flexion des articulations des membres. Des images d'osteolyse sont retrouvees. Le developpement cognitif de cet enfant est normal. L'examen histopathologique des tumeurs revelait la presence de cellules fusiformes, a noyau regulier, enchâssees dans des cordons longs de substance eosinophile. Conclusion. Il s'agit d'une nouvelle observation de FHJ qui confirme la severite du pronostic de cette forme de fibromatose consideree comme due a une anomalie hereditaire du metabolisme du collagene.

Die juvenile hyaline Fibromatose ist eine sehr seltene erstmals 1873 von Murray beschriebene Bindegewebserkrankung mit autosomal rezessivem Erbgang. Diagnostische Hauptkriterien sind das Auftreten von multiplen kutanen Tumoren und Gingivahypertrophie, Nebenkriterien stellen die Entwicklung von Gelenkkontrakturen, osteolytischen Lasionen und das familiare Vorkommen dar. Bei unserem 24jahrigen Patienten zeigte sich nach unauffalliger Geburt und Neugeborenenperiode im Alter von 6 Monaten im Zusammenhang mit der Dentition eine Gingivahypertrophie. In den ersten Lebensmonaten fielen kleine hautfarbene Knotchen im Nacken sowie perianal auf, die nachfolgend ab dem 15. Lebensmonat verstarkt sowohl spontan, aber vornehmlich posttraumatisch, auftraten. Im weiteren Verlauf zeigte sich bei normaler geistiger Entwicklung eine deutliche Progredienz der Hautveranderungen mit nachfolgenden multiplen schwersten Deformationen der Extremitaten sowie Gelenksteifigkeit und Bewegungseinschrankungen, so das ab dem 15. Lebensjahr eine selbstandige Fortbewegung kaum mehr moglich war. Beide Geschwister und die nicht blutsverwandten Eltern des Patienten haben keinerlei auffallige Hautveranderungen. Wegweisend fur die Diagnosesicherung sind Klinik und Histologie. Die elektronenmikroskopischen Befunde konnen wertvolle Zusatzinformationen liefern und die Diagnose bestatigen. Aufgrund einer gestorten Bildung von Bindegewebsproteinen kommt es zu Ablagerungen von Chondroitin, Kollagen und Mukopolysacchariden in den fibroblastaren Zellen und im dermalen Bindegewebe. Eine wirksame Therapie der Haut- und Gelenksveranderungen existiert nicht.

This brief clinical study presents a case of a 2-year-old girl with a submandibular mass that caused erosion of the inferior border of the mandible. An incisional biopsy finding revealed juvenile fibromatosis, that is, a group of fibrous proliferations that have biologic behavior and histopathologic pattern intermediate between those of benign fibrous lesions and fibrosarcoma. These lesions should be treated through wide surgical excision, and patients should be kept under regular follow-up because of their high recurrence rate.

Aggressive fibromatosis (AF) is a benign, non-metastatic proliferation of fibroblasts in the musculoaponeurotic compartment that tend to infiltrate locally and recur after surgical resection. Wide local excision with adequate clear margins is the treatment of choice. Magnetic resonance imaging (MRI) and computed tomography (CT) are excellent in delineating the extent and depth of these lesions. Thus they play an important role in the surgical management of these patients. There are a few descriptions of the MRI characteristics of these lesions in children. Radiographically, our cases are typical of others described in the literature-hypointense on T1-weighted images and hyperintense on T2-weighted images.

Fibrous tumor of childhood include several disorders with variable biologic behavior. In the review by Coffin and Dehner [1] of 190 soft-tissue neoplasms in 183 children, 27% were fibroblastic or myofibroblastic in origin. Although nearly all fibrous lesions are benign, they may be locally aggressive. The purpose of this essay is to describe clinical characteristics and to illustrate radiologic features of commonly encountered fibrous lesions of childhood. Familiarity with the presentation and variable appearance may aid the radiologist in suggesting the diagnosis of fibromatosis.

Juvenile hyaline fibromatosis (JHF) is a rare hereditary disorder named by Drescher et al. in 1969. As recently as 1985, only 30 cases had been reported worldwide. We report the case of a 9-year-old girl who was diagnosed with JHF at age 3 and has been closely followed since. She initially had slowly growing multiple soft tumors over her entire body as well as hypertrophic gingiva and mild bone deformities. She was originally misdiagnosed with infantile myofibromatosis at age 3. However, at age 6, because of the light and electron microscopic findings of the tumors, she was diagnosed as having JHF. Currently, at age 9, she has nodular lesions developing over her body as well as bone changes that are progressing with no evidence of regression.

This report illustrates a case of the phyllodes tumor of the breast with intracytoplasmic inclusion bodies that are diffusely distributed over the tumor. The inclusion bodies were identified as aggregated actin filaments by modified immunohistochemical and ultrastructural analyses. These structures are thought to be identical to those of the characteristic intracytoplasmic inclusion bodies observed in the case of infantile digital fibromatosis. To date, tumors with such intracytoplasmic inclusion bodies have been recognized exclusively as infantile digital fibromatosis. Although a few rare cases in which the infantile digital fibromatosis-like tumor occurred outside the digit or in adulthood, all these cases were in the category of fibromatosis or fibroma. This case is the first instance of the tumor containing intracytoplasmic inclusion bodies identical with the infantile digital fibromatosis other than fibromatosis or fibroma.

An infant with self-healing, multifocal cutaneous infantile myofibromatosis with leg-length discrepancy as a sequela is reported. This condition should be suspected in infants with one or more firm or hard nodules in the skin, subcutaneous tissue, bone, muscle, or viscera. The histopathologic picture is diagnostic. Treatment and prognosis depend on the extension and location of the tumors.

In 1989, a case report and extensive review on the subject of juvenile hyaline fibromatosis, a rare entity, was published. Because patients who have this condition often have contractures at the knee, we thought it worth while to report the case of another patient in whom operative treatment of these contractures enhanced the life-style of the patient considerably

The authors report a case series on four patients with infantile digital fibromatosis located on pedal digits. Surgical excision was performed in all cases, with no evidence of recurrence. It is a rare form of juvenile fibromatosis, which presents on the fingers and toes of infants and children. Conservative treatment is recommended by authors owing to the benign nature of the lesion and its tendency to regress, and reports of recurrence after surgical intervention. We believe that surgical excision of lesions in this condition, however, remains an appropriate recommendation for the management of this rare entity.

SUCCINYLCHOLINE resistance is a rare phenomenon that may occur in patients with increased plasma cholinesterase 1-3 or in myasthenic patients. 4-6 The present report describes resistance to succinylcholine in a patient with juvenile hyaline fibromatosis (JHF), 7,8 who had normal cholinesterase values and normal neurologic and neuromuscular functions.

Infantile digital fibromatosis (recurrent digital fibromatosis) is a rare, benign fibrous growth of childhood. The authors present a case of a 16-year-old child with an infantile digital fibromatosis on the volar surface of the right little finger at the distal interphalangeal joint level. After excision of the tumor, histopathologic diagnosis was shown to be infantile digital fibromatosis. The patient has been free of recurrence for 3 years after surgery.

A case of juvenile hyaline fibromatosis in a 7-year-old Asian boy is presented. This autosomal recessive inherited condition has not been described in the otolaryngology literature before. We demonstrate the benefits surgical intervention, for treatment of gingival hypertrophy, can bring to the patient and outline the other features of this rare condition. The literature on juvenile hyaline fibromatosis and infantile systemic hyalinosis is also reviewed.

Infantile (desmoid-type) fibromatosis is an uncommon, locally aggressive tumor that is seldom reported in the dermatologic literature. We describe a case of infantile (desmoid-type) fibromatosis in a 2-year-old girl. Surgical disposition entailed amputation of the affected digit. Our report is intended to heighten awareness of this potentially fatal tumor, and emphasize the importance of timely diagnosis and treatment.

There have been 100 reported cases resembling this rare entity. This type of fibroma differs from others in three respects: (1) clinically it is limited to the fingers and toes in infants, (2) it has a remarkable tendency to recur, and (3) morphologically it is characterized by the presence of cytoplasmic inclusion bodies. Herein the authors discuss two cases. This type of fibroma appears from birth to age 3 years in the digits; if correctly diagnosed and left alone, it will regress spontaneously. On the basis of the literature, the present cases were treated conservatively and had follow-up until the fibromas disappeared and did not recur.

Infantile fibromatosis is a process that is difficult to distinguish from fibrosarcoma. It is found in neonates and infants but only rarely has it been reported to involve the external genitalia or scrotum. A 10-month-old boy is described with histologically proved infantile fibromatosis of the scrotum. Characteristics distinguishing infantile fibromatosis from fibrosarcoma and the appropriate management of this disease are presented.

Two unusual cases of infantile fibromatosis involving the mandible occurring in 2-year-old children are described. These tumours, though initially highly aggressive, underwent spontaneous regression in the absence of definitive treatment.

Congenital fibrous hamartoma is one of the rare congenital lesions occuring in the abdomen. We report a case of congenital fibromatosis of the small intestine in a boy who presented with a huge intra-abdominal mass. Problems associated with diagnosis are discussed with a review of the literature.

Proliferation of fibrous tissues to form a localised mass with infiltrating margins may occur anywhere in the body; involvement of the orbit is rare. Children and young adults are most commonly affected. The term 'juvenile fibromatosis' is one of several synonyms. Of the two main forms of this entity, the solitary form is the more common and the prognosis is good. The multicentric form has a poor prognosis. The patients described, a 2 1/2-year-old boy, had a solitary nodule of juvenile fibromatosis removed from the right orbit and was asymptomatic 2 3/4 years postoperatively.

A rare case of solitary interhemispheric myofibroma with excellent outcome in a 20 month old boy is described. The clinicopathological features of this unusual condition are reviewed with emphasis on the CNS manifestations. A case of congenital fibrosarcoma was first diagnosed by William and Schrum1 and was subsequently renamed congenital generalised fibromatosis by Stout in 19542 as a distinct form of juvenile fibromatosis characterised by tumour-like nodules involving the skin, soft tissues, bones, and viscera. Based on the ultrastructural and immunohistochemical features of the cell of origin and the occurrence of this condition in infants, as well as congenitally, it was renamed infantile myofibromatosis by Chung and Enzinger in 1981.3 This disorder is considered to represent a hamartomatous myofibroblastic proliferation, although laboratory evidence suggests that it may arise secondary to oestrogen stimulation in utero . Infantile myofibromatosis represents the most common fibrous tumour of infancy and may present with solitary or multicentric lesions. When visceral involvement is present, the multilesional form is termed “generalised”. Cases with familial incidence,3spontaneous regression,4 5 and fatal outcome3 6 have all been described. Poor outcome has generally been associated with extensive visceral involvement and …

Desmoid fibromatoses are benign, slow growing fibroblastic neoplasms, arising from musculoaponeurotic stromal elements. Desmoids are characterized by local invasion, with a high rate of local recurrence and a tendency to destroy adjacent structures and organs. Desmoid fibromatoses are rare in children, and though they may occur in the head and neck region, are extremely rare in the paranasal sinuses. Here we report a case of extraabdominal desmoid fibromatosis in a seven-year-old boy involving the sphenoid sinus, one of only six published reports of desmoid fibromatosis of the paranasal sinuses. The expansile soft tissue mass eroded the walls of the sphenoid sinus as well as the posterior ethmoid air cells extending cephalad through the base of the skull. We discuss the clinicopathologic features of this lesion, including structural and ultrastructural characteristics, and we review the literature regarding treatment and outcome.

Infantile myofibromatosis is an uncommon, benign, probably hamartomatous proliferation of myofibroblasts. Its growth is typically self-limiting but histologically it can simulate a sarcoma. A rare case of solitary infantile myofibromatosis presenting as an intraoral mass in a 10-year-old girl is reported.

This article deals with a young school boy born in 1971 with a tumor in the palm of his right hand. We have considered this a juvenile aponeurotic fibroma. This tumor has recurred several times, leading to unavoidable amputation of the right wrist and hand. Seven years after the initial diagnosis, the axillary area became involved, then the pleura and lung. Such an unusual process leads to reconsidering the diagnosis and to regard this case as an intermediate form between Keasbey's juvenile aponeurotic fibroma and generalized fibromatosis.

Juvenile fibromatosis is a clinically aggressive but benign condition which does not commonly affect the jaws. Clinical and radiographic features are not specific, but diffuse lytic destruction of a portion of a jaw, especially the inferior border of the mandible, characterizes many cases. Histopathologic features are consistent and should be carefully observed to avoid a misdiagnosis of sarcoma. Three cases of juvenile fibromatosis affecting the jaws are reported; the patients were alive and well 9, 4, and 5 years, respectively, following therapy.

Seven cases of fibromatoses in infancy and childhood serve as examples to demonstrate this group of rare tumours, taking especially the aggressive forms of juvenile fibromatoses into account. There is a tendency to locally invasive destructive growth without metastasising at any time and a markedly high relapse rate after surgery--a tendency that showed up clearly in our patients, too. Only one child out of four having infantile (desmoid-type) fibromatosis of different localisation did not show any recurrence. The article reports, among other cases, on a desmoid of the stomach and oesophagus in a 15-year-old girl, not described in the literature so far, and on a congenital fibromatosis of the pancreas. Several classifications had to be performed to properly grade the individual cases (1, 6), since no generally valid systematic description of these tumours exists.

This report illustrates an extradigital fibromatosis located in the right upper arm. The clinical, light-, and electron-microscopic features were identical to those found in the recurrent digital fibromatosis of childhood. As is typical for infantile digital fibromatosis, this reported lesion recurred once. Light microscopy showed eosinophilic, perinuclear inclusions which by electron microscopy were nonmembrane-bound, compact fibrillary structures. Whereas major reviews state that infantile digital fibromas occur exclusively on the digits, this unique case describes the rare occurrence outside the digit.

A case of congenital solitary myofibromatosis occurring in the mandible is presented. Recognition of this entity is of clinical importance as the lesion can be easily confused with juvenile fibromatosis. In contrast to this latter disease which exhibits a locally aggressive growth pattern requiring radical surgery, myofibromatosis consists of well-circumscribed nodules amenable to simple excision. Moreover, myofibromatosis may show spontaneous regression. Histological features permitting the differentiation of myofibromatosis from juvenile fibromatosis are discussed.

SUMMARY A case of infantile digital fibromatosis (IDF) in a 3-year-old girl is reported. Two tumours were present on the left fourth toe and one over the lateral aspect of the left heel. Histological examination revealed that the tumour cells contained intracytoplasmic inclusion bodies, characteristic for this condition. The tumours showed spontaneous regression without therapy.

We are presenting the case of a patient who had another rare cause of painful contractures of the joints in infancy ― namely, juvenile hyaline fibromatosis. To our knowledge, this etiology has not been previously mentioned in the orthopaedic literature