Congenital generalized infantile myofibromatosis and neonatal hemochromatosis. An autopsy case report

An autopsy case of congenital infantile myofibromatosis and neonatal hemochromatosis is reported. A thirty-six-hour-old baby girl had multiple subcutaneous nodules in addition to multiple visceral involvement of heart, lungs, pharynx, larynx, stomach, small bowel, large bowel, pancreas, kidneys, spleen, thyroid, adrenal glands, lymph nodes, peripheral nerves, meninges and soft tissues. In these tumoral nodules, three types of histological patterns were observed: 1-hemangiopericytoma-like, 2-mixed, and 3-pure spindle cell. Tumor cells were immunohistochemically positive for actin, and negative for desmin, muscle-specific antigen, and estrogen, related protein. The histological and immunohistochemical findings of the case suggested that a close relationship may exist between infantile myofibromatosis and infantile hemangiopericytoma. In addition to infantile myofibromatosis, neonatal hemochromatosis characterized by iron deposition in parenchymatous organs such as liver, pancreas, lungs, thyroid, and adrenal glands was another important characteristic of the case.     

An unusual presentation of congenital infantile myofibromatosis arising from the interspinous ligament

The authors describe an extremely rare presentation of congenital infantile myofibromatosis. A full-term newborn boy presented with a thumb-sized subcutaneous mass on the mid-spinal line between the 2nd and 3rd lumbar spinous processes. A solid tumor arising from the interspinous ligament was resected. Microscopic and immunohistochemical studies revealed myofibromatosis. Accepted: 12 November 1997     

Aggressive infantile myofibromatosis: report of a case of a clinically progressive congenital multiple fibromatosis

We report a case of congenital multiple fibromatosis (infantile myofibromatosis) showing the typical spindle-cellular proliferation with prominent vascularity on light microscopical observations. Electron microscopy showed the abundance of fibroblasts with conspicuous collagen and reticulin fibers together with numerous cells sharing the characteristics of both fibroblasts and smooth muscle cells (myofibroblasts). Neither visceral involvement nor ossification has been detected during the 4-year-long follow-up period. However, the clinical course has shown a slow, continuous, protracted though destructive proliferation of subcutaneous myofibroblastic nodules. These findings are contrasted with previous reports that claimed that the presence of myofibroblasts indicates benign behavior and results in the regression of fibromatous lesions.     

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.     

INFANTILE MYOFIBROMATOSIS WITH HEMANGIOPERICYTOMA-LIKE FEATURES OF THE TONGUE: A Case Study Including Ultrastructure

We report a case of an infantile myofibromatosis with hemangiopericytoma-like features arising in the tongue of a 5-month-old female infant. Many authors now classify neoplasms as infantile myofibromatosis that were previously called infantile hemangiopericytoma. The ultrastructural features of our tumor illustrate its biphasic nature and provide a possible explanation for its histogenesis. Infantile myofibromatosis, including those diagnosed as infantile hemangiopericytomas, rarely arise in any intraoral location. Despite the generally good prognosis associated with these neoplasms, complete surgical excision is recommended to avoid recurrences.     

Infantile myofibromatosis involving the choroid plexus

We present a case of infantile myofibromatosis manifest as a choroid plexus mass followed by spontaneous regression. Infantile myofibromatosis is a common juvenile fibrous disorder occurring in infancy and early childhood. Intracranial involvement in infantile myofibromatosis is rare. It generally occurs in the dura with calvarial invasion and secondary brain compression.     

婴儿型肌纤维瘤病的临床特点

目的 通过对婴幼儿肌纤维瘤病临床特点的分析，提高对本病的认识，掌握鉴别诊断的方法。方法 通过收治的3例患儿的诊治经过，3例在术前均经CT或钡餐检查，并经手术切除或活检和病理检查证实为本病，并结合文献讨论其临床特点。结果 3例患儿分别为2岁，1d和13岁，均以无痛性肿块为主要表现，病变部位分别位于盆腔、会阴部皮下及胃，均经手术治疗和病理证实。结论 本病少见，先天性或发生于2岁以内患儿的孤立性无痛性清表性结节是本病最为显著的临床特点，有自限性，局部切除即可治愈，与硬纤维瘤显著不同。但累及内脏以及全身广泛性病变者预后不良。     

Infantile myofibromatosis of the ovary presenting with ascites.

We report the first case of ovarian infantile myofibromatosis (IM) presenting with gross ascites in a 2-month-old girl. There was no evidence of recurrence of ascites or tumour 5 years after complete excision. IM has to be considered in the differential diagnosis of ovarian tumours in infants. Despite having the alarming histologic features of high cellularity, brisk mitotic activity, vascular invasion and necrosis, the tumour responded well to surgery alone without aggressive adjuvant therapy.The case is reported to expand the spectrum of 1) ovarian tumour pathology; 2) infantile myofibromatosis distribution; 3) causes of infantile ascites.     

Intracranial infantile myofibromatosis with intraparenchymal involvement

Infantile myofibromatosis is the most common fibrous disorder of infancy and early childhood. Intracranial involvement is rare, with the majority of lesions being localized to the skull or dura with variable intracranial extension. We present the case of a 19-month-old girl with infantile myofibromatosis and an incidentally discovered, enlarging, calcified, posterior fossa mass. The patient underwent suboccipital craniotomy and resection of the lesion. This is the first report of the surgical removal of an intraparenchymal infantile myofibroma.     

Remission of infantile generalized myofibromatosis after interferon alpha therapy

Infantile myofibromatosis is the most common fibrous tumor of infancy. Solitary or generalized myofibromas without visceral involvement usually regress within a few months. The multifocal disease infantile generalized myofibromatosis, with visceral involvement, is associated with a significant mortality due to the effect of tumors on vital organs. We report a case of infantile generalized myofibromatosis with visceral involvement, including 2 right atrium tumors. The infant expressed high circulating vascular endothelial growth factor and fibroblast growth factor-2 levels, and interferon alpha-2b was started as antiangiogenic treatment, aimed at triggering regression of the life-threatening cardiac lesions. The tumors regressed and vascular endothelial growth factor and fibroblast growth factor-2 levels were reduced after treatment discontinuation.     

Successful treatment of relapsed multifocal nonvisceral infantile myofibromatosis

Infantile myofibromatosis is a very rare tumor in childhood and infancy. The authors report on a 4-year-old boy who presented with two relapses of initially multifocal infantile myofibromatosis without visceral involvement. The lesions of the skull and the abdomen were excised while osteolytic lesions of the limbs were not treated. Chemotherapy or radiation have not been applicated. Three years after initial diagnosis there is no evidence for persistence or recurrence of the tumor.     

Successful treatment of life-threatening generalized infantile myofibromatosis using low-dose chemotherapy

Infantile myofibromatosis is the most common fibrous tumor of infancy. The generalized form of the disease is associated with a high rate of early mortality, especially if visceral structures are involved. Various therapeutic strategies have been used in these patients, including high-dose chemotherapy, with the risk of therapy-related toxicity. The authors present two cases of generalized infantile myofibromatosis, with life-threatening visceral and nonvisceral involvement, in which the patients were cured with a combination of low-dose chemotherapy and intensive care. The authors propose a prospective international trial using a safe low-dose chemotherapy protocol to test the efficacy of this treatment strategy.     

A Case of Multiple Infantile Fibromatosis of Unclassified Type

We report an unusual case of fibromatous disease in infancy, diagnosed as a multiple infantile fibromatosis of unclassified type. Histologically, the tumors are composed of a mixture of fibrous component and mature adipose tissue. The clinical manifestations resemble those of infantile myofibromatosis. The symptoms, including size and number of tumors, have not been progressive for one year.     

Major malformations in a case of infantile myofibromatosis

A case of infantile myofibromatosis associated with oesophageal atresia, annular pancreas, additional sacral vertebra and hypoplatic right kidney in a male neonate is reported. The possibility of associated malformations in this rare disease is outlined.     

SPONTANEOUS RESOLUTION OF A SINGLE LESION OF MYELOID LEUKEMIA CUTIS IN AN INFANT: Case Report and Discussion

Though infantile leukemia has a historically poor prognosis, there may be a subset of patients with cutaneous disease whose disease will resolve without therapy. The authors report a case of infantile leukemia cutis who presented with a single subcutaneous chloroma that spontaneously resolved over the course of several weeks and who remains without evidence of disease nearly two years later. After reviewing the literature of congenital leukemia cutis, the authors conclude that withholding chemotherapy in infants with cutaneous myeloid leukemia in the absence of known negative prognostic factors (MLL or BCR-ABL translocations) or progressive disease is clinically indicated.     

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.     

Tubular cytoplasmic inclusions in a case of childhood dermatomyositis with migratory subcutaneous nodules

A boy with dermatomyositis which began at the age of one year and five months showed multiple migratory subcutaneous nodules, which have seldom been described. Histological and electron microscopic studies of muscles and subcutaneous nodules demonstrated the following interesting findings.

1. Light microscopy. The migratory subcutaneous nodules consisted of non-suppurative panniculitis and ischaemic adipo-necrosis as a sequel to vascular lesions. This finding suggests that the nodules may have arisen from the subcutaneous adipose tissue which had been severely damaged by systemic angiopathy.
2. Electron microscopy. Examination of the vessels in muscle and subcutaneous nodules showed tubular cytoplasmic inclusions with a diameter of approximately 250 Å in the endoplasmic reticulum of vascular endothelial cells.

These observations provide strong support for the concept that the fundamental pathologic process in childhood dermatomyositis is of a vascular nature, and the primary lesion is in the walls of the intramuscular blood vessels.     

Infantile myofibromatosis

Despite being the most common fibrous tumour of infancy, infantile myofibromatosis is still sufficiently rare for the diagnosis not to be apparent to many clinicians. We present the data from the 12 cases seen in our institute over the last 14 years and highlight three cases, the first a “typical” case, then a retroperitoneal myofibroma that presented with duodenal obstruction and finally one that presented as an isolated scrotal mass. We have also reviewed the literature on the subject.     

Connective Tissue Growth Factor Expression in Pediatric Myofibroblastic Tumors

Human connective tissue growth factor (CTGF) is a secreted cysteine-rich peptide and a member of the peptide family that includes serum-induced immediate gene products such as a v-src-induced peptide and a putative proto-oncogene, c-src. CTGF is secreted by endothelial cells, fibroblasts, smooth muscle cells, and myofibroblasts. Its expression is increased in various human and animal fibrotic diseases. We hypothesized that tumors with significant fibrous and vascular components would exhibit increased expression of CTGF. We examined the expression of CTGF mRNA by in situ hybridization in 12 pediatric tumors and tumor-like conditions, including angiofibroma, malignant fibrous histiocytoma, infantile myofibromatosis, and malignant hemangiopericytoma. All the tumors showed moderate to intense CTGF expression in tumor cells and/or endothelial cells of the associated vasculature. Angiofibromas expressed CTGF only in factor VIII–positive endothelial cells and vascular smooth muscle cells. In contrast, infantile myofibromatosis, malignant hemangiopericytomas, and fibrous histiocytomas expressed CTGF in both endothelial cells and in vimentin-positive tumor cells, particularly those around the blood vessels. CTGF mRNA was not detected in the inflammatory cells observed in many of the tumors. The presence of CTGF in the endothelial cells and tumor cells around blood vessels raises the possibility that CTGF is involved in the pathogenesis of these myofibroblastic tumors. Received December 13, 1999; accepted May 23, 2000.     

Infantile myofibromatosis: a most unusual cause of gastric outlet obstruction

Non-bilious vomiting in the newborn is common. Etiologies include both surgical and medical conditions. Gastroesophageal reflux, soy or milk protein allergy, and prostaglandin-induced foveolar hyperplasia are among the medical causes. Surgical entities include gastric antral webs, pre-ampullary duodenal and pyloric atresia, and hypertrophic pyloric stenosis. We report the unique case of an 8-day-old girl who presented with gastric outlet obstruction secondary to infantile myofibromatosis.