Congenital leiomyoma of the distal ileum associated with ileal atresia: a case report.

Association of distal ileal atresia with leiomyoma is a quite rare condition. Herein, we describe a newborn who underwent surgery for ileal atresia and was found to have leiomyoma on pathological examination in the atretic segment. The presence of leiomyoma may indicate a malformation during recanalization and could play a role in the etiology of intestinal atresia. Thus, some cases of atresia may be due to tumor (leiomyoma) in the bowel wall.

Congenital pilar leiomyoma.

Piloleiomyomas are benign smooth muscle tumors arising from the arrectores pilorum muscles in the skin. They usually occur as multiple firm dermal nodules located on the extremities and trunk. Solitary lesions are rare. Leiomyomas usually develop during adolescence or early adult life. Congenital pilar leiomiyoma is an extremely rare entity. We present a case of congenital solitary pilar leiomyoma located on the face.

Aberrant expression of apoptosis proteins and ultrastructural aberrations in uterine leiomyomas from patients with hereditary leiomyomatosis and renal cell carcinoma.

OBJECTIVE: To examine differences between sporadic and familial uterine leiomyomata related to expression of apoptosis-related proteins and tumor ultrastructure. DESIGN: Expression of apoptosis-related proteins was measured by immunohistochemistry. Tumor ultrastructure was evaluated by transmission electron microscopy. SETTING: Human genetics laboratory. PATIENT(S): Patients confirmed for hereditary leiomyomatosis and renal cell carcinoma (HLRCC), and anonymous archival sporadic leiomyoma patients. INTERVENTION(S): Samples for electron microscopy were collected from myomectomy and hysterectomy with informed consent. Other samples were archival. MAIN OUTCOME MEASURE(S): Intensity of immunohistochemistry staining and evaluation of electron micrographs. RESULT(S): Immunohistochemistry revealed increases in expression of antiapoptotic Bcl-2 and the proliferation factor proliferating cell nuclear antigen (PCNA) in both sporadic and HLRCC uterine leiomyomata. Furthermore, we observed an increase in antiapoptotic Bcl-x and a concurrent decrease in proapoptotic Bak solely in HLRCC leiomyomas. We also observed ultrastructural alterations in HLRCC and sporadic leiomyomas, particularly pertaining to extracellular matrix and intermediate filament aggregation. CONCLUSION(S): The observed alterations in expression of apoptosis-related proteins indicate a shift in both HLRCC and sporadic leiomyomas to increased resistance to apoptosis compared with myometrium, which appears to be stronger in HLRCC leiomyomas. The changes observed in HLRCC leiomyomas appear to be related to activation of the hypoxia pathways. The results suggest not only a partial overlap in the pathogenic mechanism of the two tumor types, but also intriguing differences.

Infantile myofibroma in a prematurely born twin: a case report.

Infantile myofibromatosis is a rare benign tumor of infancy and childhood that occurs in solitary, multiple, and generalized forms with similar histology but different clinicopathologic and prognostic implications. Even solitary tumors need follow-up, as the type of presentation will be determined over time. It is necessary to differentiate this entity from other more aggressive tumors, especially rhabdomyosarcoma, which is treated by chemotherapy prior to excision. We describe a prematurely born twin girl who had at birth a solitary tumor of the cervicoscapular region, involving the dermis and subcutis. A fine-needle aspiration biopsy (FNAB) specimen obtained soon after her birth suggested a diagnosis of benign neoplasm. The tumor was excised 1 month later, at which time it was significantly enlarged, ulcerated, and also exhibited worrisome histologic features including mitoses and infiltrative growth. It had the characteristic histologic pattern of infantile myofibromatosis, and myofibroblastic features of tumor cells were confirmed immunohistochemically and ultrastructurally. During the follow-up period of 39 months, there was no sign of recurrence or new tumors.

Piloleiomiomas faciales múltiples no familiares / Multiple nonhereditary facial piloleiomyomas

El leiomioma es una neoplasia benigna de fibras musculares lisas. La variante más frecuente de leiomioma cutáneo es el piloleiomioma, originado a partir del músculo piloerector. Los piloleiomiomas pueden ser solitarios o múltiples. Todos los piloleiomiomas solitarios y la gran mayoría de los piloleiomiomas múltiples son esporádicos, pero en algunos casos de piloleiomiomas múltiples se ha descrito un modo de herencia autosómico dominante. Los piloleiomiomas suelen localizarse en extremidades superiores e inferiores y tronco. La cabeza y el cuello son las regiones que se afectan con menor frecuencia. Presentamos el caso de un varón de 75 años que presentaba en la mejilla derecha una placa de 4 × 3 cm por confluencia de múltiples nódulos constituidos por músculo liso. Relacionaba su aparición con su acné juvenil. Realizamos una revisión de los casos de piloleiomiomas con afectación facial publicados en la literatura inglesa (AU)

Congenital leiomyomatous epulis: a case report with immunohistochemical study.

The histologic and immunohistochemical findings of an extremely rare case of congenital soft tissue mass on the alveolar ridge in an infant are reported. The lesion clinically mimicked an ordinary congenital epulis (congenital granular cell epulis, granular cell tumor of the newborn); however, histologically it consisted of a conglomerate of spindle-shaped cells, akin to smooth muscle cells, which formed interlacing and whorled fasciculi. Nerve fibers with myxoid degeneration, capillaries and muscle walled small vessels intermingled with fasciculi of spindle-shaped cells. The border between the conglomerate of spindle-shaped cells and the surrounding connective tissue was not evident. Immunohistochemically, most of the spindle-shaped cells were intensely positive for antibodies to alpha-smooth muscle actin, HHF-35 and desmin. These findings suggest that the lesion was composed of mature smooth muscle cells that were of hamartomatous or choristomatous nature. The term 'congenital leiomyomatous epulis' is proposed.

Solitary intraosseous infantile myofibroma of the orbital roof.

BACKGROUND: There are several rare tumors that can cause proptosis in an infant, including infantile myofibroma. METHODS: A 3-month-old infant developed a painless, bone-destructive superomedial orbital mass, raising concern for orbital malignant neoplasms. Computed tomography disclosed a bone-destructive mass of the sphenoid wing. On magnetic resonance imaging, the intraosseous mass was well-circumscribed, surrounded by cortical bone, and showed prominent enhancement. RESULTS: Superomedial orbitotomy and biopsy revealed a lesion composed of spindled to stellate cells, without mitotic activity, set in a fibromyxoid stroma. Immunohistochemical stains were positive for vimentin and actin. Ultrastructurally, there were actinlike thin filaments, mitochondria, and rough endoplasmic reticulum confirming a myofibroblastic proliferation and supporting the diagnosis of congenital infantile myofibroma. CONCLUSION: Infantile myofibroma is a benign tumor that occurs rarely in the ocular region but can cause prominent bone destruction, misleading the clinician to suspect a malignant neoplasm.

Fibromatoses of childhood: the spectrum of radiographic findings.

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.

[Facial myofibroma of the newborn simulating sarcoma]. / Présentation sarcomateuse d'un myofibrome facial du nouveau-né.

INTRODUCTION: Myofibromatosis is a rare but probably under estimated tumor. OBSERVATION: We report a case of a newborn presenting with a facial tumor suggestive of sarcoma. Discrepancy between clinical features and histologic pattern of angioma suggested the diagnosis of myofibroma. The diagnostic of myofibromatosis was made later by specific labelling (actin-smooth muscle) and was confirmed by major spontaneous involution. DISCUSSION: The histology of myofibroma associates fibrous and angiomatous patterns that may be confusing when examining a small biopsy. Due to confusing semiology and histology, subcutaneous myofibromas are certainly misdiagnosed and specific actin labelling (actin, HHF 35) may be of interest. Myofibromas are the most frequent tumor among fibromatoses. The diagnosis should be suspected on the stony consistence of the tumor uncompatible with angiomatous histology. Contrary to multicentric myofibromas of which the prognosis depends on visceral involvement and compressions (72 p. 100 of fatal outcome), solitary subcutaneous myofibroma has a very good prognosis with spontaneous involution.

Congenital jejunal leiomyoma in a neonate.

Leiomyomas of the small intestine are rare in neonates. We report a neonate with jejunal leiomyoma, who presented with acute intestinal obstruction.

Leiomyoma of the tongue presenting as congenital airway obstruction.

Leiomyoma is a benign tumor of smooth muscle origin that is most commonly found in the uterus, gastrointestinal tract, and skin. Intraoral leiomyomas are rare, usually asymptomatic, and, most often present in the fifth decade of life. A review of the literature since 1884 yielded only 125 cases, including 23 of the tongue. We report the first case of a congenital leiomyoma of the tongue presenting with airway obstruction. A 6-day-old female infant, intubated since birth for respiratory distress, was evaluated for an obstructing oropharyngeal mass. The tumor was pedunculated, mucosa-covered, and localized to the posterior tongue. The mass was completely excised using a CO2 laser. There has been no recurrence in 1 year of follow-up.

Infantile myofibromatosis: an unusual presentation and a review of the literature.

An infant with an unusual presentation of Infantile Myofibromatosis (IM) is presented. Massive involvement of the pelvic region complicated the delivery and precluded meaningful therapy. The literature is reviewed.

Leiomyoma of the incisive papilla region: a case report.

Leiomyomas are benign neoplasms of smooth muscle origin. They represent rare entities in the oral cavity. A case arising from the incisive papilla region of a 3-month-old infant is described and the histogenesis as well as the biologic potential of this tumor are discussed.

Infantile myofibromatosis: a case report.

A male infant had three nodules on the left cheek, right forearm, and right neck. Biopsy specimen revealed infantile myofibromatosis (IM). Further evaluation revealed a solitary pulmonary nodule in the right middle lobe located far from mediastinal structures, which had no evidence of tumor enlargement on follow-up tomographic scan. Immunoperoxidase studies were negative for desmin and positive for actin. This is a potentially life-threatening multiorgan system disease; however, if lesions are limited mainly to the skin and soft tissues, the prognosis becomes more favorable. Although many reports suggest spontaneous and complete healing of the cutaneous lesions, our patient had profound atrophy at lesion sites as resolution occurred.

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.

Iodine-131 metaiodobenzylguanidine uptake in infantile myofibromatosis.

I-131 MIBG scintigraphy was performed on a neonate who presented with a left neck mass and brachial palsy. Increased uptake of the tracer was apparent in the mass, initially suspected as being a neuroblastoma, but later diagnosed as infantile myofibromatosis. Since MIBG is principally taken up by neuroendocrine tumors, this finding suggests caution be used when interpreting studies in this age group.

Alport's syndrome and the eye.

Alport's syndrome comprises hereditary deafness, nephritis and ocular abnormalities. The features of Alport's syndrome are illustrated by a family with Alport's syndrome and hereditary oesophageal leiomyomatosis. The evidence that Alport's syndrome is due to a widespread basement membrane disorder is noted. Treatment of anterior lenticonus, the principal ocular abnormality, by lensectomy and intraocular lens insertion is recommended.