Musculoaponeurotic Fibromatosis (Extraabdominal Desmoid Tumor) in a Child with Idiopathic Multicentric Osteolysis

Abstract: The fibromatoses are a group of benign proliferations of fibrous tissue with clinical behavior ranging from that of truly malignant tumors to that of benign reactive fibrous proliferations. Some of the superficial fIbromatoses are fairly common, but the deep ones, also known as desmoid tumors or musculoaponeurotic flbromatoses, are rare idiopathic multicentric osteolysis is a rare skeletal disorder of childhood that causes progressive destruction of bones and renal failure. We recently saw a young girt with both extraabdominal musculoaponeurotic fibromatosis and idiopathic multicentric osteolysis. The classification, diagnosis, and treatment of the deep fibromatoses are reviewed, and the possible association between the minor bone changes occasionally reported In musculoaponeurotic fibromatosis and idiopathic multicentric osteolysis is discussed.     

Exuberant juvenile hyaline fibromatosis in two patients

Juvenile hyaline fibromatosis and infantile systemic hyalinosis are rare autosomal recessive disorders of infancy and early childhood that are histologically characterized by deposition of hyaline material. The main clinical features are papulo-nodular skin lesions, gingival hypertrophy, joint contractures, and bone abnormalities. However, infantile systemic hyalinosis has a more severe clinical presentation, including visceral involvement and premature death. Very recently, genetic studies identified mutations in the same gene in patients with both conditions, strongly suggesting that they belong to the same disease spectrum. We report two new nonrelated patients who met the criteria for the diagnosis of juvenile hyaline fibromatosis/infantile systemic hyalinosis. Clinical, histopathologic, immunohistochemical, and ultrastructural findings are presented, as well as an extensive review of the literature. Recent information regarding pathogenesis and treatment is discussed.     

Trends in Clark Level and Breslow Thickness of Invasive Cutaneous Malignant Melanoma over a 50‐Year Period in Olmsted County/Rochester, MN

Infantile fibromatosis (IF) is an uncommon childhood disorder characterized by solitary or muticentric tumors involving skeletal muscle, skin, bones, or viscera. There is a wide morphologic spectrum reflecting various stages of fibroblastic differentiation. We present the clinical and histopathologic findings of a rare case of IF. A seven month old female presented with firm masses over the right elbow (2 × 3 cm.) and right distal clavicle (3 × 4 cm.). Magnetic resonance imaging demonstrated increased T2 signal within the soft tissues of the right axilla, supraclavicular region, and distal humerus. However, there was no evidence for bony involvement. Incisional biopsy of the supraclavicular mass showed a white fibrous grossly appearing tumor. Histologic examination revealed clusters of adipocytes and infiltration of skeletal muscle fibers by a moderately cellular proliferation of ovoid within a fibrous background. There was no atypia, necrosis, or increased mitotic activity. The tumor cells showed diffuse immunoreactivity for vimentin and weak focal positivity for smooth muscle actin. No reactivity was seen with S100. In addition, none of the tumor cells exhibited nuclear estrogen receptor expression by image cytometry. This case is reported in an effort to better define the clinical and histopathologic features of infantile fibromatosis.     

Aggressive infantile fibromatosis

An 8-month-old infant presented with 2 ulcerated indurated plaques in the right lower limb. The lesions grew rapidly initially but for the last 2 months, they have been stationary. Biopsy showed proliferation of fusiform fibroblasts some of which were arranged in whorls. The clinical picture and the histopathology suggested the diagnosis of an aggressive infantile fibromatosis. This is one of the types of juvenile fibromatoses, a group of tumours characterised by fibrous tissue proliferation present at birth or acquired early in childhood.     

Congenital myofibromatosis in two siblings

Infantile myofibromatosis (IM) is a rare mesenchymal disorder characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. Although most cases are sporadic, there have been a few reports of a familial pattern of inheritance. In most cases, diagnosing IM is not difficult. However, IM should be differentiated from neurofibromatosis, paediatric sarcomas, nodular fasciitis, fibrous hamartoma of infancy, and hyaline juvenile fibromatosis. The prognosis for IM depends on the degree of visceral involvement. Since spontaneous tumoral regression is usual, in cases of limited involvement therapeutic abstention and patient observation are recommended. Surgery, chemotherapy or radiotherapy are reserved for patients with multiple visceral localizations, particularly in the lung and gastrointestinal tract, which may have a worse prognosis and potentially fatal outcome. We report on a family in which two siblings, born from non-consanguineous parents, were affected by congenital myofibromatosis. In both patients, tumors were present at birth, with multicentric subcutaneous, muscular, skeletal and visceral involvement. The growing subcutaneous myofibromas were surgically removed, while the smallest ones disappeared spontaneously over the course of 24 months.     

Juvenile xanthogranuloma with lichenoid appearance

Juvenile xanthogranulomas are benign histiocytic cell tumors that develop mainly in infancy and early childhood and then spontaneously regress. We report a 2-year-old boy who presented with generalized eruption of a mixture of micronodular and macronodular juvenile xanthogranuloma with a large number of widely distributed lichenoid papules. Light microscopic and immunocytochemical analyses of the lesion were consistent with juvenile xanthogranuloma. Abdominal ultrasonography did not detect any visceral lesions, and brain magnetic resonance imaging did not detect any mass lesions. We decided to observe the course without treatment in this case because there are no internal masses of juvenile xanthogranuloma. Regular follow up has therefore been scheduled. To our knowledge, this is the third report of a case demonstrating juvenile xanthogranuloma with lichenoid appearance. Future analyses of various cytokines such as granulocyte-macrophage colony-stimulating factor and/or tumor necrosis factor-α in juvenile xanthogranuloma lesions should be of great help in elucidating the pathogenesis of this disease.     

Juvenile hyalin fibromatosis.

A boy had multiple large tumors on the scalp, whitish nodules on the nape and both sides of the neck, hypertrophic gingiva, and severe flexural contractures of hip and knee joints. The histopathologic structure of the tumor was characteristic of juvenile hyalin fibromatosis. The tumor cells were embedded in an amorphous eosinophillic ground substance. X-ray films revealed numerous osteolytic and osteociastic lesions that are important findings in the study of this disease.     

Fibrous hamartoma of infancy--infantile subcutaneous myofibroblastoma

This paper presents light and electron microscopic findings in a case of fibrous hamartoma of infancy. Histological examination revealed different tissue components: irregular trabecular collagen fibers among mature adipose tissue, and mesenchymal cells at the border of fibrocollagenous trabeculae as well as around blood vessels. Ultrastructurally most of the tumor cells represented myofibroblasts. According to the predominance of a distinct cell type, fibrous hamartoma of infancy cannot be regarded as a hamartomatous lesion but should be included in the group of juvenile fibromatoses under the term 'infantile subcutaneous myofibroblastoma'.     

Calcospherules associated with juvenile hyaline fibromatosis

Juvenile hyaline fibromatosis is a rare autosomal recessive genodermatosis that manifests with 1 to 5 cm skin tumors, gingival hyperplasia, osteolytic bone lesions, and joint contractures. The skin tumors are most often located on the head and periarticular extremities. A case of juvenile hyaline fibromatosis with typical skin tumors that on biopsy exhibited basophilic calcospherules is presented. Although noted in a single case, these structures may be a novel, yet helpful, diagnostic marker.     

Plaque‐Like Myofibroblastic Tumor: Report of Three Cases

Plaque‐like myofibroblastic tumor of infancy (PMTI) was first reported in 2007. The first two cases described large, plaque‐like tumors presenting in infancy with microscopic features consistent with dermatofibroma but with immunohistochemical features of myofibrocytic lineage. We present three additional cases of PMTI, the first cases reported since the initial two cases, and describe additional clinical features of this condition, including presentation in early childhood as opposed to infancy, development of ulceration, and aggressive growth. We propose shortening the name of this condition to plaque‐like myofibroblastic tumor because presentation can occur in infancy or in early childhood.     

Plaque-like myofibroblastic tumor of infancy

Abstract:  Fibrohistiocytic neoplasms are relatively uncommon in infancy and childhood. We report an unusual spindle cell tumor occurring in two infants within the first 3 months of life. These tumors histologically resembled dermatofibromas, but the young age of onset, large size, and plaque-like morphology were distinctly different from those of dermatofibromas. The features of these neoplasms are discussed and the differential of other spindle cell tumors of infancy is reviewed.     

Benign anteromedial plantar nodules of childhood: a distinct form of plantar fibromatosis

Plantar fibromatosis is a benign but sometimes locally aggressive proliferation of fibrous tissue that usually arises in adolescence or early adulthood. Pediatric presentation with asymptomatic, bilateral nodules on the anteromedial heel pad may be cause for cosmetic concern, but is otherwise harmless. Awareness and clinical diagnosis of benign anteromedial plantar nodules of childhood will prevent unnecessary and possibly unsuccessful surgery. We present a case of anteromedial plantar nodules and a brief review of the literature. We propose the term "benign anteromedial plantar nodules of childhood" to describe and define this clinically distinctive form of plantar fibromatosis.     

Juvenile hyaline fibromatosis in siblings

Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessively inherited disorder. We report two siblings with multiple large tumors on the scalp, translucent papules on the nape of the neck, hypertrophic gingiva, and severe flexural contractures of large joints. The histopathology from the skin lesions showed features characteristic of juvenile hyaline fibromatosis. The cases are being reported on account of the extreme rarity of the condition.     

Primitive myxoid mesenchymal tumor of infancy in a preterm infant

Primitive myxoid mesenchymal tumor of infancy is a recently recognized entity that has been added to the differential diagnosis of myxoid tumors of the soft tissue. Few cases have been reported of this entity in the literature, but none presenting in a preterm infant. We present the case and clinical course of a preterm boy with a primitive myxoid mesenchymal tumor of infancy that occurred following excision of a congenital juvenile xanthogranuloma.     

Recurrent digital fibromatosis of childhood. An ultrastructural and immunohistochemical study of two cases

Two cases of recurrent digital fibromatosis of childhood were studied by electron microscopy and immunohistochemistry, using rabbit anti-actin antisera. The tumor cells were typical myofibroblasts, containing inclusion bodies and bundles of microfilaments. Immunohistochemistry showed the presence of actin in these cells, thus proving the myofibroblastic nature of the tumors. Inclusions were negative or showed a weak annular positivity. A possible explanation of these findings is discussed.     

Fibrohistiocytic skin tumors

The fibrohistiocytic tumors of the skin are a heterogeneous group of dermal/subcutaneous mesenchymal neoplasms which show fibroblastic, myofibroblastic and histiocytic (macrophage‐like) differentiation, often one beside the other in the same tumor. “Fibrohistiocytic” means in this context the morphologic similarity of the cells with fibroblasts and histiocytes. The WHO classification of 2005 includes the following entities as fibrohistiocytic tumors of the skin: Benign: 1. Fibrous histiocytoma (FH)/(synonymous: Dermatofibroma. Variants of FH: 1a. cellular fibrous histiocytoma, 1b. atypical (pseudosarcomatous) fibrous histiocytoma, 1c. aneurysmatic fibrous histiocytoma, 1d. epithelioid fibrous histiocytoma; 2. dermatomyofibroma; 3. (juvenile) xanthogranuloma. Intermediate: 4. plexiform fibrohistiocytic tumor; 5. dermatofibrosarcoma protuberans; 6. atypical Fibroxanthoma. Malignant: 7. malignant fibrous histiocytoma. All these entities are reviewed in this paper with particular attention devoted to differential diagnostic considerations.     

Benign fibrous histiocytoma with osteoclast-like giant cells in an infant

Abstract:  Benign fibrous histiocytoma is a common soft tissue tumor that usually occurs in adults and is relatively rare in childhood. This report describes a 7-month-old Caucasian boy with an enlarging firm congenital nodule on his occipital scalp. Histologic analysis revealed a benign fibrous histiocytoma with osteoclast-like giant cells. Benign fibrous histiocytoma with osteoclast-like giant cells is a rare histologic variant.     

Xanthogranuloma juvenile combined with neurofibromatosis

Xanthogranuloma juvenile is a rare condition of childhood. The disease typically begins in infancy or early childhood and despite the number of papules, eventuates in cure in two to five years. The present report describes an extremely rare combination of xanthogranuloma juvenile with neurofibromatosis.     

Fibrous Hamartoma of Infancy: A Firm Plaque Presenting with Hypertrichosis and Hyperhidrosis

Fibrous hamartoma of infancy (FHI) is a rare, benign, soft tissue tumor. The lesion's clinical resemblance to more aggressive soft tissue tumors of childhood makes histologic diagnosis paramount. We report a unique presentation of a FHI associated with localized hypertrichosis and hyperhidrosis.