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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.

Background: Systemic hyalinoses are genetic generalized fibromatoses characterized by an accumulation of hyalin in the dermis. Two distinctive syndromes are recognized in the literature: infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF). ISH and JHF are sometimes difficult to separate since they show significant overlap. Observations: We report on 3 children from two unrelated families suffering from JHF. The first child is severely handicapped by joint contracture, massive hyperplasia of the gingivae, diffuse skin papules and subcutaneous nodules occupying the scalp, face, perianal area, palms, soles and chest. At the same age, the second child only shows pearly skin papules on the face, groin and perianal area and gingival hyperplasia without joint stiffness or any other subjective complaint. The third patient, a brother of the second child, developed mild skin abnormalities by the end of the first year. The occurrence in siblings and consanguinity in the second family suggests autosomal recessive inheritance. Histological skin examination in the 3 cases showed hyaline deposition in the dermis and abnormal ultrastructure of fibroblasts. Biochemical findings showed mucopolysaccharide abnormalities in both families. Conclusion: Our patients do not only illustrate the different expressions of JHF but also show some overlap with ISH, suggesting a common cause for both disorders. Genetic studies will finally answer this question.

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.

We describe a case of light microscopically typical solitary, infantile myofibromatosis in a 6-month old boy. The myofibroblastic differentiation of the tumor was supported by immunohistochemical and ultrastructural analyses. Cytogenetic and FISH analyses revealed a pseudodiploid karyotype with an interstitial deletion of the long arm of one chromosome 6, del(6)(q12q15), as the sole anomaly. The results demonstrate the usefulness of cytogenetics and FISH in distinguishing this type of lesion from infantile fibro-sarcoma. To the best of our knowledge this is the first cytogenetic analysis of solitary infantile myofibromatosis.

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.