Limb body wall complex: a critical review and a nosological proposal.

The analysis of the literature on limb body wall complex reveals a varied and rather confused spectrum of cases. However, we noticed the presence of at least 2 clearly distinguishable phenotypes. The first phenotype shows craniofacial defects and amniotic bands and/or adhesion; the second--without craniofacial defects--presents urogenital anomalies, anal atresia, and abdominal placental attachment, together with a persistence of the extra-embryonic coelom. We think these 2 phenotypes are the consequence of different pathogenetic mechanisms. The pathogenesis of the first type can be related to an early vascular disruption, while the pathogenesis of the second one is attributable to an intrinsic embryonal maldevelopment. Eight cases of the second phenotype were identified and the pathological findings proving this maldevelopmental origin are described.

Fine needle aspiration cytology of lipid-secreting breast carcinoma. A case report.

Lipid-secreting carcinoma is a rare type of invasive carcinoma of the breast first described by Aboumrad et al in 1963. We believe lipid-secreting carcinoma to be a specific type of breast carcinoma and that it has to be differentiated from invasive lobular carcinoma. We report for the first time the fine needle aspiration cytologic features along with the histologic and electron microscopic findings.

Extraskeletal myxoid chondrosarcoma with intranuclear vacuoles and microtubular aggregates in the rough endoplasmic reticulum. Report of a case with fine needle aspiration and electron microscopy.

The findings of fine needle aspiration biopsy cytology, histology, immunohistochemistry and electron microscopy in an extraskeletal myxoid chondrosarcoma of the soft tissue of the thigh detected in a 65-year-old man are described. In addition to the more usual cytologic findings of chondroblasts and pleomorphic mesenchymal cells, this tumor displayed distinctive intranuclear cytoplasmic inclusions and microtubular aggregates in the rough endoplasmic reticulum. Cytologic study made the diagnosis of malignancy, suggesting a myxoid sarcoma; the precise diagnosis was made by the subsequent studies on the resected tumor and resin-embedded samples of the aspirate. The suitability of aspirated material in the differential diagnosis of myxoid soft tissue tumors is discussed.

Carcinoma of the breast with osteoclast-like giant cells. Fine-needle aspiration cytology, histology and electron microscopy of 5 cases.

Five cases of a rare peculiar type of mammary carcinoma with osteoclast-like stromal giant cells are reported. The tumors are characterized by a large number of multinucleated giant cells in intimate association with the epithelial neoplastic cells. The light and electron microscopic observations confirm the earlier reports about the origin of the giant cells from mononuclear histiocytes as a local response to some tumoral products. In 3 patients a preoperative fine-needle aspiration biopsy was carried out and the cytomorphology of these tumors is described to alert cytopathologists who encounter this entity in the routine breast mass aspiration biopsy.

Myxoma of the skull and orbit.

An unusual case of myxoma of the skull extending into the orbital cavity is reported. Myxoma is a benign tumour of the soft tissues and maxillary bones, which often presents infiltrating growth and recurrences. Histologically it is characterized by abundant myxoid stroma and is often confused with other tumours which can present mucoid degeneration. Although diagnosis is impossible before histological examination, the possibility of a myxoma must be considered in the presence of extradural osteolytic poorly vascularized lesions.

Angioimmunoblastic lymphadenopathy with dysproteinemia: report of the first case in childhood evolving toward spontaneous remission.

This is the first known report of a case of angioimmunoblastic lymphadenopathy, with dysproteinemia (AILD) in childhood which evolved toward a spontaneous remission. The disease had an acute onset with generalized lymphadenopathy, hepatosplenomegaly, high-grade fever and polyclonal hypergammaglobulinemia. The lymph nodes met all of the histologic criteria required for diagnosis as established by Frizzera et al. It is emphasized that AILD should be taken into consideration in the differential diagnosis of lymphadenopathy in childhood.

Neuroendocrine (Merkel cell) tumor of the skin: fine-needle aspiration cytology, histology, electron microscopy and immunohistochemistry of 12 cases.

A series of 12 cases of neuroendocrine (Merkel cell) tumor of the skin, observed in the last 4 years, is reported. The mean age of the patients, 10 females and 2 males, was 62.4 years. The head, buttocks and extremities were the primary locations. The recurrence rate was 33.3% and 2 patients died of their disease. The histology is characterized by small round cells growing in solid sheets, nests or trabeculae. Ultrastructural study showed cytoplasmic membrane-bound granules of neurosecretory type and collections of perinuclear intermediate filaments as constant findings. The presence of cytoskeletal proteins was studied with monoclonal antibodies against cytokeratin and neurofilaments, as well as neuron-specific enolase reactivity, by the immunoperoxidase technique in 7 cases. Cytokeratin was demonstrated in 5 tumors and neurofilaments in 3, whereas the neuron-specific enolase was positive in all tested cases. In 4 patients a fine-needle aspiration biopsy of the primary, skin recurrences or lymph node metastasis was performed, showing the reliability of this technique in the diagnosis and staging of the disease.