Maffucci’s syndrome associated with spindle cell hemangioendothelioma

 The case of a 49-year-old man with Maffucci’s syndrome, who developed multiple spindle cell hemangioendotheliomas, is presented. The case provides support for recent reports suggesting an association between this peculiar vascular lesion and skeletal enchondromatosis.     

Familial systematized epidermal nevus syndrome

Epidermal nevi are typically congenital but rarely familial. We report on a family in which 3 relatives have systematized epidermal nevi. The propositus also has evidence of a hemangioma and a hemangioendothelioma. Peripheral blood and skin fibroblast karyotypes of the propositus did not show evidence of mosaicism. Epidermal nevi have been associated with nondermatologic pathology, involving the nervous, vascular, and skeletal systems in sporadic cases. This report demonstrates that nondermatologic pathology can be also be associated with systematized epidermal nevi in a familial setting. The apparent skipping of generations may be explained by autosomal dominant inheritance with decreased penetrance. © 1992 Wiley-Liss, Inc.     

Infantile hemangioendothelioma of the thymus with massive pleural effusion and Kasabach-Merritt syndrome: Histopathological, flow cytometrical analysis of the tumor

Infantile hemangioendothelioma of the thymus is a rare disease. We describe a patient who developed a large anterior mediastinal mass, severe thrombocytopenia and massive pleural effusion at 1 month of age. Glucocorticosteroid and irradiation therapy had no effect on either the tumor size or clinical symptoms and the tumor was resected subtotally. Three months after the subtotal resection, the remaining tumor had almost disappeared and the symptoms had resolved. The patient has now been well for 1 year after surgery without evidence of recurrence. The tumor tissue was characterized by prominent vascular endothelial proliferation intermixed with a normal thymic structure, producing a picture consistent with that of an infantile hemangioendothelioma in the thymus, lmmunohistochemically, the tumor cells showed positive staining for vimentin, factor VIII and CD34. The DNA stemline and proliferative activity were examined by flow cytometry, which revealed a diploid stemline with a low growth fraction. DNA content and cell cycle analyses of the tumor tissue may be useful for predicting the biological behavior of the tumor.     

Malignant vascular lesions of bone: radiologic and pathologic features

The malignant vascular tumors of bone represent an uncommon diverse group of tumors with widely variable clinical and radiographic presentations. Although the radiographic imaging features of the lytic osseous lesions typically seen with this group of tumors are relatively nonspecific, the propensity to develop multifocal disease in an anatomic region is a feature that can be helpful in suggesting the diagnosis of a vascular tumor. The differential diagnosis varies according to the age of the patient and presence of solitary or multifocal disease. The histologic features are variable and range from tumors with vasoformative features to those that mimic mesenchymal neoplasm or metastatic carcinoma. Familiarity with the radiographic and pathologic spectrum of disease is essential for making an accurate diagnosis in this diverse group of neoplasms. This paper will provide a review of the nomenclature for the malignant vascular tumors of bone and discuss the radiographic and pathologic differential diagnosis. Received: 17 December 1999 Revision requested: 8 February 2000 Revision received: 19 May 2000 Accepted: 9 June 2000     

Primary cardiac hemangioendothelioma: a case report

Primary cardiac hemangioendothelioma is extremely rare.1-3 Up to now less than twenty cases have been reported in English literature, the data about this kind of cardiac tumors are scanty. In this report, a case of a huge hemangio-endothelioma that arose from the right atrium and was successfully resected is presented.     

Epithelioid sarcoma‐like (pseudomyogenic) hemangioendothelioma,clinically mimicking dermatofibroma,diagnosed by skin biopsy in a 30‐year‐old man

Epithelioid sarcoma‐like (pseudomyogenic) hemangioendothelioma (ESHE) represents a rare soft tissue and bone tumor that typically presents as nodule(s) in the distal extremities of young adults. The nodules traverse several tissue planes simultaneously and can involve the dermis, subcutis, skeletal muscle and bone. ESHE shares clinical and microscopic features with epithelioid sarcoma (ES), and, accordingly, is commonly misdiagnosed as ES. However, unlike ES, which has a poor prognosis, ESHE commonly follows an indolent course. Herein, we report a case of ESHE diagnosed by skin biopsy that clinically mimicked a dermatofibroma. We also provide clinical photographs of the lesions in various stages of development, representing information that has not been previously published, to our knowledge.     

Differential diagnosis of epithelioid and clear cell tumors in the liver

A tumor composed of large eosinophilic cells in the liver raises concern for hepatocellular carcinoma, which is typically composed of such cells. However, there are other tumors, both primary and metastatic, that may be composed predominantly of large epithelioid cells. Distinction of these tumors from hepatocellular carcinoma and from each other is of obvious importance for patient management. Similarly, a clear cell tumor anywhere in the body triggers suspicion for renal cell carcinoma. However, other tumors, including hepatocellular carcinoma can rarely be composed entirely of cell cells and the distinction of these from one another, and of primary from metastatic disease is vital. As with the latter, accurate diagnosis is essential for patient management. Using illustrative examples, this article discusses differential diagnosis of liver tumors comprised predominantly of epithelioid cells or clear cells.     

Hepatic epithelioid hemangioendothelioma: Update on diagnosis and therapy

With an estimated incidence of only 1-2 cases in every 1 million people, hepatic epithelioid hemangioendothelioma (HEHE) is a rare vascular endothelial cell tumor occurring in the liver and consisting of epithelioid and histiocyte-like vascular endothelial cells in mucus or a fibrotic matrix. HEHE is characterized as a low-to-moderate grade malignant tumor and is classified into three types: solitary, multiple, and diffuse. Both the etiology and characteristic clinical manifestations of HEHE are unclear. However, HEHE has a characteristic appearance on imaging including ultrasound, magnetic resonance imaging, and positron emission tomography/computerized tomography. Still, its diagnosis depends mainly on pathological findings, with immunohistochemical detection of endothelial markers cluster of differentiation 31 (CD31), CD34, CD10, vimentin, and factor VIII antigen as the basis of diagnosis. Hepatectomy and/or liver transplantation are the first choice for treatment, but various chemotherapeutic drugs are reportedly effective, providing a promising treatment option. In this review, we summarize the literature related to the diagnosis and treatment of HEHE, which provides future perspectives for the clinical management of HEHE.