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A 1-day-old female newborn presenting with a severe left proptosis was found, on imaging, to have a cranial mass extending in both orbits and ethmoid sinuses. Tumor debulking and biopsy were performed through a lateral orbitotomy. Based on histologic findings, a diagnosis of infantile myofibroma was made. No involvement was found in other areas of the body. The patient died because of respiratory arrest after intracranial surgery that was performed 45 days after the orbital surgery. To the authors' knowledge, only one similar case of cranio-orbital myofibroma has been reported previously. This tumor should be considered in the differential diagnosis of congenital proptosis and cranio-orbital tumor. In such cases, tumor debulking can be performed through orbitotomy.

A report of 2 cases of solitary fibromatosis in a 10-day-old boy and a girl 3 years and 10 months old is presented. Both lesions were deep-seated and showed a nodular and infiltrating growth, predominantly built-up by immature fibroblast-like cells and including hemangiopericytoma-like areas. One of the lesions also showed leiomyoma-like areas. An ultrastructural study, however, revealed no intra-cytoplasmatic myofilaments. At follow-up examinations after 21 years and 1 year, respectively, there were no signs of recurrences or metastases. These 2 cases are considered to represent a solitary form of congenital generalized fibromatosis. The differential diagnosis from infantile hemangiopericytoma and fibrous lesions seen in infancy and early childhood, such as infantile fibrosarcoma, diffuse infantile fibromatosis, extra-abdominal desmoid, fibrous hamartoma of infancy and juvenile aponeurotic fibroma, is discussed.

A case of congenital generalized fibromatosis with a dermoid tumour of the right cornea, fibromatosis of the back of the left foot, a furrow of the left wrist and malformed fingers of the right hand is described. The changes were found in a 4-year-old girl from Thailand.

Infantile myofibromatosis (IM) is a rare disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The incidence is 1/150,000 live births and the disease is the most common cause of fibrous tumors in infancy. Cases which lack visceral involvement generally have a more benign course, usually with spontaneous regression of the tumors. On the other hand, the prognosis tends to be unfavorable when there is involvement of vital organs, which can lead to significant mortality. The identification of rare variants in genes that may cause IM is the first step towards the possibility of targeted treatments; however, the molecular pathogenesis of IM is poorly understood. In the present study, we report the results of exome sequence analysis of two brothers diagnosed with visceral multicentric infantile myofibromatosis, and their healthy consanguineous parents. In the two brothers we identified novel homozygous variants in NDRG4 gene (N-myc downregulated gene family member 4) and in RLTPR gene (RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing). The healthy parents were heterozygous for both variants. Consistent with the phenotype of IM, NDRG4 is a tumor-related gene; its expression has been shown to be decreased in numerous tumor types, suggesting that it might be a tumor suppressor gene. Additionally, studies have demonstrated that NDRG4 may have a role in cell survival and tumor invasion. We thus propose that this homozygous variant in NDRG4 may be the causative variant of the autosomal recessive form of IM in the studied family and that it should be investigated in other cases of autosomal recessive infantile myofibromatosis.

Submitted by Revista Nascer e Crescer (nascerecrescer.hmp@chporto.min-saude.pt) on 2013-05-08T12:26:39Z No. of bitstreams: 1 HidropisiaFetal_18-4.pdf: 153948 bytes, checksum: 11749c7282683840779ade78a4c0269d (MD5) Made available in DSpace on 2013-05-08T12:26:39Z (GMT). No. of bitstreams: 1 HidropisiaFetal_18-4.pdf: 153948 bytes, checksum: 11749c7282683840779ade78a4c0269d (MD5) Previous issue date: 2009-12

RESUMO Introdução: A hidropisia fetal define-se por uma acumulação anormal de fluído intersticial no feto. Descrita inicialmente como uma entidade patológica única, Ballantyne em 1892 levantou a hipótese de representar um estado final comum a uma variedade de processos patológicos diferentes. Potter distingue 2 tipos: imune (mais frequente na era prévia à utilização da RhoGAM) e não imune (implicada actualmente em cerca de 90% dos casos). Apesar de todos os avanços de diagnóstico, a hidropisia fetal continua a ser uma entidade desafiante na medicina perinatal. O objectivo deste estudo foi analisar os casos de hidropisia fetal numa Unidade de Cuidados Intensivos Neonatais (UCIN), para avaliação de etiologia, morbilidade e mortalidade. Pacientes e métodos: Os autores apresentam cinco casos de hidropisia fetal tratados numa Unidade de Cuidados Intensivos Neonatais entre Setembro de 2005 a Janeiro de 2009, ilustrativos de diferentes etiologias. O estudo baseou-se na análise retrospectiva dos processos das mães e recém-nascidos, com avaliação dos dados obstétricos e neonatais. Resultados: De Setembro de 2005 a Janeiro de 2009 foram internados na Unidade 1923 recém-nascidos dos quais cinco com diagnóstico de hidropisia fetal. Destes, três casos foram de causa não imune (fibromatose generalizada congénita; diabetes materna e cardiomiopatia dilatada; quilotórax congénito), um caso por iso-imunização Rh e o outro de causa idiopática. Só um dos casos tinha diagnóstico pré-natal. A mortalidade na nossa série foi de 40%. Conclusão: Apesar da melhoria no diagnóstico e abordagem terapêutica, a elevada taxa de morbilidade e mortalidade permanece, sendo de extrema importância o diagnóstico pré-natal precoce. Este permite determinar a etiologia, antecipar problemas, tomar decisões clínicas de acordo com o prognóstico esperado e também o aconselhamento genético/ DPN. Uma boa coordenação multidisciplinar, envolvendo neonatologistas, obstetras e patologistas é essencial. ABSTRACT Introduction: Hydrops fetalis is defined by an abnormal accumulation of interstitial fluid in fetuses. Initially described as a unique pathologic entity, in 1892 Ballantyne suggested it might represent a final state common to a variety of different pathologic processes. Potter distinguishes 2 types: immune (more frequent till the discovering of RhoGAM) and non immune (90% of the cases nowadays, with an estimated incidence of 1 in 1500 to 3800 births). Besides all advances in diagnosis, hydrops fetalis still remains a defying entity in perinatal medicine. The aim of this review was to analyze the cases of hydrops fetalis in a Neonatal Intensive Care Unit (NICU) to assess etiology, morbidity and mortality. Patients and methods: The authors present five cases of hydrops fetalis treated in a NICU, from September 2005 to January 2009, illustrating different aetiologies. The study was based on the retrospective analysis of mothers and newborns’ medical files evaluating obstetric and perinatal parameters, diagnosis, treatment and evolution. Results: From September 2005 to January 2009, 1923 newborns were admitted in NICU. Five had the diagnosis of hydrops fetalis. Three of these were of non immune cause (congenital generalized fibromatosis, maternal diabetes and dilated cardiomyopathy and congenital chylothorax), one of Rh iso-immunization and the last of unknown aetiology. Only one of the cases had prenatal diagnosis. The group mortality was of 2/5 cases (40%). Conclusion: Besides the improvement in diagnosis and therapeutic approach, the high mortality and morbidity rates still remain, being extremely important an early prenatal diagnosis. This allows the determination of the aetiology, anticipating problems, making clinical decision based on the expected prognosis and also the genetic counselling. An excellent multidisciplinary coordination, involving neonatologists, obstetricians and pathologists is essential.

Congenital generalized fibromatosis is an uncommon condition that most commonly affects the male newborn or young infant. There is widespread osseous lytic lesions. These lesions most commonly involve metaphyseal regions of long bones and may be expanded with or without a sclerotic margin. There can be involvement of the skin, muscles, viscera, and subcutaneous tissue. Single or multiple bone lesions and soft-tissue tumors may occur in the Infant, and this entity is second only to angiomatous lesions as the most common neoplasms in this age group. The authors illustrate a case of congenital generalized fibromatosis in an infant with hepatic involvement demonstrated on a radionuclide bone scan. A computed tomographic study demonstrates the lesion, which was confirmed with biopsy.

Congenital generalized fibromatosis is part of the spectrum of the fibromatoses of infancy and childhood. The lesions are usually multiple and fibrous in nature. They may appear in virtually every organ outside the central nervous system. Congenital generalized fibromatosis can be limited to the skeleton and rarely manifests itself as a solitary bone lesion. Solitary osseous lesions often behave differently than multiple osseous lesions. Solitary lesions often do not regress without treatment and can have a high incidence of recurrence with less than marginal excision. Multiple osseous lesions often regress without treatment.

A case of congenital generalized fibromatosis in a black male infant with involvement of lungs, subcutaneous tissue, pancreas, adrenal, lymph nodes, and bone is described. Fifteen prior cases with pulmonary involvement are reviewed, emphasizing the poor prognosis associated with pulmonary lesions. This case demonstrated, in addition to previously described histologic features, broad bands of fibroblastic proliferation in the interlobular septa producing retraction of the visceral pleura. Possible etiologic factors are discussed, with suggestions for additional studies in future cases.

A rare case of congenital generalized fibromatosis with predominant bone involvement in a Chinese newborn is reported. Radiological examination revealed multiple osteolytic lesions in all the long limb bones and the skull. Pathology showed a mixture of fibroblasts and smooth muscle-like cells. The spontaneous regression of most of the bone lesions after 18 months is highlighted.

A study of a 3-month-old boy with a solitary form of congenital generalized fibromatosis of the skeleton is presented. Radiographic examination revealed a shortening of the right ulna and an osteolytic lesion in the distal metaphysis extending to the epiphysis. The histological appearance seems to be consistent with previously described cases of generalized congenital fibromatosis of soft tissues and skeleton. Ultrastructurally, the tumor cells resembled primitive fibroblasts. The lesion was curetted 3 times and filled with bone transplants before it finally healed. At follow-up of the boy at age 13, there were no signs of the tumor.

A case suspected of eosinophilic granuloma of the left proximal tibial end was repoted. Eosinophilic granuloma is the most benign variant of histiocytosis X and may have spontaneous regression during course. When it occurs in infancy, it is important to differentiate from Letterer-Siwe syndrome, congenital generalized fibromatosis and metastatic neuroblastoma. Our case was a one-month-old girl whose left lower limb was noticed to be less active than the right one at ten days after birth. The roentgenographic appearance of the left proximal tibial end showed cystic osteolysis of spongiosa, periosteal new bone formation and partial cortical defect. About two months later, these findings disappeared without therapy and then there are no sing of reccurence or new focus.

A rare case of congenital generalized fibromatosis, apparently limited to the skeleton. has been described. A presenting fracture through a distal femoral lesion healed rapidly and uneventfully in Bryant's traction. The subsequent course was that of complete regression of all lesions within six to nine months.

A case of congenital generalized fibromatosis with multiple bone involvement is reported. The disease is often fatal, and often involves many systems with fibro-blastic lesions which are present at birth or shortly thereafter. Our case is the fourth reported case with extensive bone involvement. All of the lesions in our case have completely or almost completely disappeared during the first eighteen months of life.

We describe the clinical courses of four infants with infantile myofibromatosis (IM). This entity is a mesenchymal disorder of early infancy characterized by the formation of tumors in skin, muscle, viscera, bone, and subcutaneous tissues. Previously known as congenital generalized fibromatosis, IM was formerly thought to be a rare condition that was frequently fatal. The majority of the 170 affected patients we describe have been diagnosed since 1980. Furthermore, the mortality rate for these patients is less than 15%. Our review includes the clinical manifestations, as well as histopathologic features, and discusses the prognosis in affected infants. We found that infants with solitary lesions or multiple lesions without visceral involvement generally have a benign course. However, in patients with the multicentric form of the disorder and visceral involvement, 73% have died. Because the lesions may not be easily discernible and most spontaneously resolve, the condition is underdiagnosed and underreported. IM is the most common fibrous tumor of infancy and must be considered when evaluating children who present with either solitary or multiple tumors, particularly during the neonatal period.

An infant with subcutaneous nodules was diagnosed as having congenital generalized fibromatosis based on the histopathological examination. During the child’s first year of life, additional symptoms developed which were compatible with a diagnosis of fibrodysplasia ossificans progressiva; this was later confirmed radiologically.

La fibromatosis congenita generalizada (FCG) es una enfermedad poco frecuente, caracterizada por multiples nodulos fibromatosos en cualquier tejido u 6rgano desde el nacimiento, incluso se han descrito casos con compromise del sistema nervioso central. Stout en 1954 definio esta enfermedad en su mforme original de 2 casos y enfatizo su caracter multicentrico. Mas tarde, Kauffman y Stout en su casuistica encontraron que existian diferencias en el comportamiento clinico de la enfermedad, segiin la distribution y extension de las lesiones. Diferenciaron una forma multiple con compromise subcutaneo, muscular y esqueletico, de buen pronostico y una forma generalizada para los casos con compromise ademas visceral, de peor pronostico. En esta comunicacion se informa de un caso con estudio de necropsia y

Sir .—I read the recent report of Moore et al 1 with a great deal of interest. These authors described the use of magnetic resonance imaging (MRI) to evaluate and follow the course of an infant with "congenital generalized fibromatosis." My colleagues and I 2,3 have recently reviewed the disorder in more than 170 infants, and I wish to make several comments. The condition is more aptly termed infantile myofibromatosis ( IM ). 2-5 Approximately half of affected infants will have solitary rather than multiple lesions. In addition, 25% of the children will present after the neonatal period. Finally, the term infantile myofibromatosis emphasizes the dual histopathologic features of the lesions—characteristics of both smooth muscle and fibroblasts. Infantile myofibromatosis represents the most common fibrous tumor of infancy. In contrast to Moore and colleagues' statement, involvement of IM in the central nervous system has been reported. 4,6,7 Approximately one third of infants with

The multiple organ system involvement of congenital generalized fibromatosis is usually severe enough to result in the demise of the infant within the first few months of life. The present case is an exception. It represents what appears to be the first report of a primary fibrous tumor of the cornea and the first report of ocular involvement in this uncommon syndrome. The infiltrative nature of fibromatosis makes complete excision difficult and recurrences common. A cure could not be obtained by either radiation or excision.

Congenital generalized fibromatosis is a rare condition which is often misdiagnosed and given an erroneously poor prognosis. Five new cases are presented in this report, all initially having been diagnosed as neurofibromatosis. The histopathological findings are presented and the differential diagnosis is discussed. The natural history of the disorder appears to include an initial phase of proliferation soon after birth with appearance of new tumor masses. Providing these do not involve vital viscera, the patient survives with regression and eventual disappearance of all lesions. Spontaneous regression occurred in all five patients reported. Two sets of sibs occurred in the cases described. The possible genetic aspects of this are discussed and the pertinent literature reviewed.

An unusual case of congenital generalized fibromatosis in which involvement of the spinal dura mater was accompanied by flaccid paralysis in the lower limbs is presented.

In congenital generalized fibromatosis (CGF), fibrous nodules involve the skin, bone, and viscera, and the mortality rate is as high as 80% because the visceral nodules can significantly obstruct and compress vital organs. If the fibromas involve only the skin and skeleton and not the viscera, the disease is known as congenital multiple fibromatosis, and the prognosis is excellent. In both conditions, which may be variants of the same disease process, the fibromas resolve completely and spontaneously. There are no previous reports in the literature of CGF associated with cutis marmorata telangiectatica congenita (CMTC), hemiatrophy, or porencephaly with hemiparesis, although CMTC has been seen in conjunction with hemiatrophy. These associations may be coincidental.

• A neonate had a destructive, fibrous lesion of the temporal bone. There was x-ray evidence of disseminated, lytic disease. A histologic diagnosis of malignant fibrous histiocytoma was made. No treatment was given, yet the child survived with spontaneous resolution of her lesions. We briefly discuss malignant fibrous histiocytoma and propose congenital generalized fibromatosis as an alternative diagnosis to explain the child's recovery. ( Arch Otolaryngol 105:215-219, 1979)

Three cases of the localized form of congenital generalized fibromatosis are described in females under one year. The lesions were in the parotid region, biceps muscle and abdominal wall. The infiltrative or nodular pattern of these tumours with the periphery resembling smooth muscle and the central portion resembling a haemangiopericytoma makes them a distinct histological entity. Ultrastructurally, these tumours are composed of myofibroblasts. The differential diagnosis from other soft tissue tumours in infancy and early childhood is discussed. These tumours are benign and recurrence after complete local excision is rare.

KOBAYASHI, Y., WATANABE, H., SUZUKI, H., KONNO, T. and YAMAMOTO, T.Y. Ultrastructural Studies on Congenital Generalized Fibromatosis Regressed Spontaneously. Tohoku J. exp. Med., 1981, 134 (4), 431-445-Cellular components of a subcutaneous nodule from a male infant with congenital generalized fibromatosis consisted of myofibroblasts, fibroblasts, and their various intermediate types. The myofibroblasts were characterized by the presence of bundles of microfilaments and dense bodies similar to those in smooth muscle cells. Membrane-bound vesicles containing dense material were abundant in the extracellular space. They were probably lysosomes released by disintegration of cellular components. A possible role of the myofibroblasts and extracellular lysosomes in the regression of nodular lesions was discussed.

• What is believed to be the first reported case of congenital generalized fibromatosis in an African infant is described. Features in our patient, which were not noted in previous reports of the disease, include gingival hypertrophy, ankylosis of joints, skeletal hyperostosis, and lymphatic dilation of the ileal villi. Corticosteroid therapy was tried in the patient, but did not produce any beneficial effect. (Am J Dis Child130:1215-1217, 1976).

Even since Stout's1excellent discussion and clarification of this group of proliferative diseases of fibrocytes occurring in infants and children, these lesions continue to present a problem particularly for the pathologist who must decide whether the tissue removed is non-neoplastic or neoplastic, benign or malignant. It is the purpose of this paper to present a case of fatal disseminated fibromatosis occurring in early infancy and to discuss several interesting aspects of this case. Report of a Case History.—A white male infant was admitted to Denver Children's Hospital at the age of 6 weeks with a history of diarrhea of 10 days' duration. During this period the child averaged 15 stools daily, these being described as "brown and watery." There was one episode of bright red blood in the stools at the onset and also a similar episode just prior to hospitalization. Examination—Physical examination revealed a 7 lb.

Since the original description of congenital generalized fibromatosis by Stout (5) in 1954, only 2 cases of this rare condition could be found in the literature. The disease consists of a heterogeneous group of hyperplastic and dysplastic lesions of connective tissue, occupying a poorly defined position between proliferation and repair vs. unequivocal neoplasia (4). In none of the 3 previous case reports was there any significant discussion of the bony manifestations. It is the purpose of this paper to record another example and describe the roentgen manifestations in relation to the skeletal system. Case Report A white male infant was admitted to the Denver Children's Hospital at the age of three months, chiefly because of difficulty of breathing, loose, bloody bowel movements, and failure to gain weight. The illness had its onset at the age of one month with diarrhea and the appearance of subcutaneous nodules. The child was hospitalized at that time and roentgen examination showed a pulmonary infiltrati...

A case of congenital generalized fibromatosis with involvement of the kidney and skeleton has been observed over an 18 month period. A total of 31 tumors in bone and 1 renal tumor was noted. These tumors were first found when the patient was 1 month old. The tumor in the kidney was surgically removed, and 2 skeletal tumors were biopsied. Complete spontaneous regression of the tumors in the bones was noted 16 months later.

Sir .—Congenital generalized fibromatosis (CGF) is a rare disease characterized by multiple fibromatous tumors that are present at birth, often showing proliferation and growth during infancy, with subsequent spontaneous regression if the patient survives. This peculiar natural history presents serious management dilemmas for the clinician, with uncertainty regarding the distribution of lesions and probable course. Herein, we communicate the ability of magnetic resonance imaging (MRI) to clearly delineate the precise location of fibromas in all parts of the body, and we present evidence that this new imaging modality may provide insights into the biologic stage (proliferation/regression) of individual lesions in critical areas. This represents a significant advance in the management of infants with CGF and allows frequent follow-up without exposure to ionizing radiation. In addition, we suggest that previous prognostic subclassifications of the disease were in error. Patient Report .—The patient was a vigorous boy with CGF who was originally