Solitary Intestinal Fibromatosis: a Rare Cause of Neonatal Obstruction

Solitary intestinal fibromatosis (SIF) is an unusual cause of neonatal intestinal obstruction. A fibromatosis located in the first part of the duodenum, close to the pylorus, was associated with a focus of heterotopic pancreas and mimicked congenital pyloric stenosis. It illustrates the difficulties encountered in the diagnosis and surgical management of this condition.     

Solitary Intestinal Fibromatosis with Perinatal Bowel Obstruction

Three newborn male infants presented with bowel obstruction in the first day of life and at surgery were found to have solitary tumors involving the small or large intestine. Histologic examination in each case showed a transmural infiltrative spindle cell lesion having the morphologic features of fibromatosis. Ultrastructural studies in one case revealed the tumor to be composed of myofibroblasts. The patients are all alive and well without recurrences 26 months to 10 years after surgery. Only 3 previous cases of solitary congenital fibromatosis of the intestinal tract have been reported. Some of the other congenital spindle cell tumors cited in the literature under various names have morphologic and biologic similarities to our cases and may in fact be examples of congenital fibromatosis. The appropriate treatment of this unusual lesion is local excision, and the prognosis is excellent.     

Congenital generalized fibromatosis

A typical case of congenital generalized fibromatosis (CGF) is presented and the literature on this entity is reviewed. CGF is a rare condition which is probably heritable. It is manifested in infancy. Because of the unusual biological behavior of the fibromata, two clinical courses occur-death, if vital viscera are involved, or regression of the lesions and survival without significant disability. Including the present example, 63 cases have been reported.     

Congenital Generalized Myofibromatosis: A Disseminated Angiocentric Myofibromatosis

Infantile myofibromatosis occurs in solitary, multiple, and generalized forms, with similar histology but different clinicopathologic and prognostic implications. We report the findings in two male infants with fatal congenital generalized myofibromatosis (CGMF) who presented with multiple dermal and subcutaneous nodules at birth. Imaging studies revealed bony and visceral lesions, which progressed despite chemotherapy. One infant had severe hypercalcemia associated with extensive lytic bone lesions. Both infants died in respiratory failure and had a combination of pulmonary CGMF and diffuse alveolar damage. Involvement of skin, soft tissue, bone, heart, lungs, liver, gastrointestinal tract, and endocrine organs was confirmed at autopsy in each case. A consistent histologic pattern of interlacing fascicles of myofibroblasts with abundant eosinophilic cytoplasm was noted, with variable necrosis and calcifications in some sites. The myofibroblasts displayed vimentin and smooth muscle actin immunoreactivity. The lungs in each case had the presumably early lesions of CGMF with an angiocentric and perivascular growth of myofibroblasts. A similar vascular pattern was present in all affected organs. These two cases demonstrate the extraordinary presentation of CGMF, which suggests its multifocal origin from vascular subintimal mesenchymal or smooth muscle cells whose phenotype is that of myofibroblasts.     

Fibrous Hamartoma of Infancy: Current Review

This review examines 197 cases of fibrous hamartoma of infancy (FHI) described in the literature and provides a detailed clinicopathologic analysis of what is known to date of this peculiar lesion of the subcutis and lower dermis. The vast majority of these cases occurred within the first year of life (91%). Twenty-three percent were congenital. There was a predilection for boys with a male/female ratio of 2.4. Males and females had similar anatomic distribution with the most common locations being the axillary region, upper arm, upper trunk, inguinal region, and external genital area. Most cases presented as solitary masses, but four cases of multiple separate synchronous lesions have been reported. Most lesions presented as a painless nodule, sometimes with rapid growth. A few cases had overlying skin changes, including alteration in pigmentation, eccrine gland hyperplasia, and increased hair. No lesions were reported to have familial or syndromic association, or to occur in combination with other hamartomas. Spontaneous regression has not been reported. The treatment of choice is local excision. Even with incomplete excision, FHI has a low recurrence rate. Criteria for histologic diagnosis include the presence of well-defined bundles of dense, uniform, fibrous connective tissue projecting into fat, primitive mesenchyme arranged in nests, concentric whorls or bands, and mature adipose tissue intimately admixed with the other components. Flow-cytometric and conventional cytogenetic studies have not been reported; these may clarify any relationship to other fibroblastic/myofibroblastic proliferations in children, resulting in better classification and terminology of this unique lesion. Received March 2, 1998; accepted December 15, 1998.     

Solitary intestinal fibromatosis: a rare cause of intestinal perforation in neonates

Solitary intestinal fibromatosis (SIF) is very rare; only 9 cases have been described. A new case presenting unusually in a newborn is described and the previously reported cases are reviewed. SIF should be considered in the differential diagnosis of a newborn presenting with an intestinal perforation.     

Diffuse fibromatosis on the scalp in infancy: A variant of juvenile hyaline fibromatosis

Various types of fibromatosis have been reported in infancy and early childhood. We describe an infant with diffuse fibromatosis on the scalp. A one year and five months-old girl showed a diffuse and hard mass 3 × 5 cm in diameter and no tenderness on the scalp. Two months later, the size of the mass had increased and several other tumors appeared on the lateral head. The magnetic resonance imaging (MRI) disclosed that a large and diffuse tumor had spread from the frontal to occipital head; a ‘helmet-like’ configuration of the tumor was exhibited on sagittal MR images. The tumor showed high signal intensity on T2-weighted images and was enhanced with Gd-DTPA. Histological examination showed a fibroblastic proliferation with intervening thick collagen bundles. The patient was diagnosed as having diffuse fibromatosis. The tumor at the resection site immediately recurred, whereas the tumor in the frontal head showed marked regression. Three months after the resection, new tumors appeared in the occipital head. The size and number of these tumors have remained unchanged for more than 18 months. The sites and appearance of the tumors were identical to that of juvenile hyaline fibromatosis (JHF) in this patient. However, JHF usually includes fibroblasts associated with large amounts of hyalinized collagen-like material, which were not present in our patient. The different histology of JHF comparing our case and other reported cases may depend on the different phase of the disease progression at resection. Long-term observation is necessary for the appropriate diagnosis and evaluation of prognosis in this patient.     

Desmoid‐type fibromatosis in a boy with Down syndrome

Patients with Down syndrome (DS) have a markedly higher incidence of childhood leukemia, but a lower incidence of most solid tumors, compared with age‐matched euploid individuals. Trisomy 21 might be protective against tumorigenesis because of several tumor suppressive mechanisms. Desmoid‐type fibromatosis (DF) is a rare monoclonal, fibroblastic proliferation characterized by a variable clinical course. In recent reports, almost all cases of DF involved genomic alterations associated with activation of the Wnt/β‐catenin pathway. Here, we report the case of a boy with DS who developed DF without activation of the Wnt/β‐catenin pathway. To the best of our knowledge, this is the first case of DS involving DF.     

Aggressive intra-abdominal fibromatosis in children and response to chemotherapy

Intra-abdominal fibromatosis (IAF) is a rare benign neoplasm arising from the abdominal fibrous tissue, mostly in the mesentery. IAF is characterized by a tendency to infiltrate the surrounding vessels and vital structures and recurrence after usually incomplete surgical removal. Accordingly, IAF is associated with considerable morbidity and mortality. The authors report on a boy who presented with a large IAF at the age of 5 years. Within 6 months after initial presentation, he underwent 4 subsequent abdominal explorations for diagnosis, tumor reduction, and intestinal obstructions. IAF was confirmed by the presence of vimentin and absence of other biological cell markers. Due to accelerated tumor growth and deteriorated general condition, as a last resort, a chemotherapy trial with vincristin and methotrexate was carried out. This regimen proved to be effective in reducing the tumor burden and improving the patient's general condition. Outcome of IAF depends on early diagnosis and complete tumor resection, and, if indicated, timely employment of neo/adjuvant chemotherapy. Radiotherapy must be considered in life-threatening conditions as the last resort in a growing child [2, 3, 4].     

AGGRESSIVE INTRA-ABDOMINAL FIBROMATOSIS IN CHILDREN AND RESPONSE TO CHEMOTHERAPY

Intra-abdominal fibromatosis (IAF) is a rare benign neoplasm arising from the abdominal fibrous tissue, mostly in the mesentery. IAF is characterized by a tendency to infiltrate the surrounding vessels and vital structures and recurrence after usually incomplete surgical removal. Accordingly, IAF is associated with considerable morbidity and mortality. The authors report on a boy who presented with a large IAF at the age of 5 years. Within 6 months after initial presentation, he underwent 4 subsequent abdominal explorations for diagnosis, tumor reduction, and intestinal obstructions. IAF was confirmed by the presence of vimentin and absence of other biological cell markers. Due to accelerated tumor growth and deteriorated general condition, as a last resort, a chemotherapy trial with vincristin and methotrexate was carried out. This regimen proved to be effective in reducing the tumor burden and improving the patient's general condition. Outcome of IAF depends on early diagnosis and complete tumor resection, and, if indicated, timely employment of neo/adjuvant chemotherapy. Radiotherapy must be considered in life-threatening conditions as the last resort in a growing child [].     

Central Nervous System Involvement in Congenital Visceral Fibromatosis

Congenital visceral myofibromatosis is an uncommon disorder characterized by multiple tumors of myofibroblastic origin in the neonatal period. The natural history of the disorder has been well delineated. The myofibro blast is the cell of origin of the tumor. This is a report of a patient in whom multiple mesenchymal tumors occurred in the CNS as well as in other organs. Light and electron microiscopic findings of the CNS lesions are similar to those of the somites and viscera.     

儿童侵袭性纤维瘤的临床特征及预后分析（附27例报告）

目的　分析儿童侵袭性纤维瘤的临床特征及预后情况,以提高临床认识及诊疗水平。方法　回顾性分析2007年1月至2018年1月首都医科大学附属北京儿童医院收治的27例原发性侵袭性纤维瘤患儿临床资料,并进行随访。结果　27例患儿中,男16例、女11例,中位发病年龄65（35,96）个月,原发肿瘤部位分型中,腹壁型3例、腹内型5例、腹外型19例。术前影像学检查提示原发肿瘤最大径中位数为9.8（5.3,12.1） cm。所有患儿初诊时均接受手术治疗,10例接受化疗（甲氨喋呤+长春碱类）。27例患儿中,无病生存9例,带瘤生存15例,死亡3例。5年总体存活率85.8%,5年无事件存活率32.6%。生存分析结果显示,手术切缘阳性与肿瘤复发相关。结论　儿童侵袭性纤维瘤是一种罕见的中间性肿瘤,手术切除效果不佳者极易复发,化疗对控制肿瘤的增长有一定作用。多数患儿预后良好,但部分患儿可因肿瘤持续增长而致残甚至死亡。     

Is There a Place for Chemotherapy in the Management of Recurrent Digital Fibrous Tumor of Childhood? A Case Report

The case of an 11-year-old boy suffering digital fibrous tumor of childhood with multiple recurrences is presented. The possible benefit of chemotherapy instead of a high-level amputation is discussed.     

Fibroblastic-Myofibroblastic Tumors in Children and Adolescents: A Clinicopathologic Study of 108 Examples in 103 Patients

A review of over 900 soft tissue tumors in children and adolescents revealed 108 fibroblastic-myofibroblastic tumors in 103 patients from newborn to 20 years of age, which had been accessioned in a 25-year period. Based on clinicopathologic criteria, 82 (76%) were regarded as benign, 14 (13%) as borderline, and 12 (11%) as malignant. The average age at diagnosis for the entire series was 7 years with a male/female ratio of 1.8:1. The most frequent topographic site was the extremities (48, 44%), followed by the trunk (31, 29%) and the head and neck region (27, 25%). Virtually 50% (51 tumors) of cases were diagnosed during the first year of life, and 73 (71%) occurred in the first decade. The known recurrence rate was 16% (17 cases). Fibromatoses of various subtypes accounted for 95% of the histologically benign group. Infantile myofibromatosis was the most frequent form of fibromatosis, followed by aggressive (desmoid) fibromatosis (20 cases, 19%). Ninety percent of infantile myofibromatoses were diagnosed in the first year of life. In contrast, 70% of aggressive fibromatoses occurred in the second decade. Associated conditions included familial desmoid fibromatosis, Gardner syndrome, and previous surgery. The borderline category was represented by the 14 (13% of the series) congenital-infantile fibrosarcomas. All of the 14 (13%) malignant tumors were classic adult-type fibrosarcomas that occurred only in later childhood and adolescence. Fibromatosis colli, fibrous hamartoma of infancy, juvenile nasopharyngeal angiofibroma, Dupuytren-type fibromatosis, infantile digital fibromatosis, juvenile aponeurotic fibroma, unclassified fibromatoses, and fibroma of tendon or nerve sheath constituted the remaining cases.     

Multicentric infantile myofibromatosis: two perinatal cases

Infantile myofibromatosis, the most common fibrous tumor of infancy, occurs in solitary, multiple, and generalized forms, with similar histology but different clinicopathologic and prognostic implications. This entity is a mesenchymal disorder characterized by the proliferation of fibrous tumors in the skin, muscles, viscera, bones, and subcutaneous tissues. Visceral lesions are associated with significant morbidity and mortality, generally within the first few months of life. They lead to failure to thrive, to infection, hemorrhage, or to the obstruction of vital organs. We describe two cases of multicentric myofibromatosis with significant in utero lesional growth, resulting in one fetal demise and one post-natal demise. To the best of our knowledge, this is the first report of a fetal death secondary to infantile myofibromatosis.     

Prepubertal melanoma in a medium-sized congenital naevus

A case of malignant melanoma in a medium-sized congenital naevus in a prepubertal girl is presented. Risk factors for developing melanoma during childhood include giant congenital naevi, dysplastic naevus syndrome and xeroderma pigmentosum. The lifetime risk of melanoma associated with giant congenital naevi has been estimated to be 4%–20%; the risk associated with small and medium-sized congenital naevi however remains controversial. In the latter lesions, malignant transformation is considered an almost exclusively postpubertal phenomenon, in contrast to giant congenital naevi where it often occurs prior to puberty. In our patient, malignant transformation in a medium-sized congenital naevus occurred before puberty. We suggest that the true incidence of malignant transformation within these lesions and the time at which it occurs, should be documented by prospective studies and that not only the giant congenital naevi but also the smaller congenital naevi should be considered for prophylactic excision in early childhood.