16 September 2005 – Case of the Week #20
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We thank Dr. Shylashree Chikkamuniyappa, Hematopathology fellow, University of Texas Health Science Center, San Antonio, Texas (USA) for contributing this case and the discussion. We invite you to contribute a Case of the Week by emailing NPernick@PathologyOutlines.com with microscopic images (any size, we will shrink if necessary) in JPG or GIF format, a short clinical history, your diagnosis and any other images (gross, immunostains, EM, etc.) that you have and that may be helpful or interesting. We will write the discussion (unless you want to contribute to it), list you as the contributor, and send you a check for $35 (US) for your time if we use the case. Please only send cases with a definitive diagnosis.
Case of the Week #20
The patient is a 22 year old, otherwise healthy man with Maffucci’s syndrome, who presented with pain and swelling of his hands and feet with prominent vascular soft tissue swellings. Radiographs of the hands showed multiple expansile lytic lesions (enchondromas) with focal soft tissue calcifications (figure 1).
The specimen consisted of multiple excisional biopsies of skin measuring from 0.3 to 2.0 cm in diameter. Grossly, they were dark red-brown soft tissue nodules with a white, hard, marble-like cut surface.
Micro images: figure 2, figure 3
What is your diagnosis?
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Diagnosis: Spindle cell hemangioma
Maffucci’s syndrome is a rare, nonhereditary, congenital disorder of multiple enchondromas and soft tissue hemangiomas (Emedicine.com). There is no racial or sexual predilection. Pathological fractures are common and 20% develop malignant tumors, usually chondrosarcomas and rarely angiosarcomas. The soft tissue hemangiomas usually occur in young adults and affect the distal extremities, especially the hands. They may be cavernous, capillary, phlebectatic (dilated veins) or spindle cell hemangiomas, and occur in various parts of the body.
Spindle cell hemangiomas, originally described in 1986 as spindle cell hemangioendotheliomas (Am J Surg Pathol 1986;10:521), are uncommon lesions that commonly occur in children or young adults, although they can occur at all ages. They initially form solitary nodules and later multiple nodules within the distal extremities, often the subcutis of the hand. They produce few symptoms, causing delay in treatment.
Grossly, spindle cell hemangiomas are usually firm nodules. Microscopically, they are often partly or completely intravascular, and resemble both a cavernous hemangioma and Kaposi’s sarcoma. They are composed of thin-walled cavernous blood vessels lined by flattened endothelial cells containing red blood cells and thrombi. The thrombi may develop into calcified phleboliths. The area between vessels contains bland, spindled, kaposiform-like areas, composed of collapsed vessels, pericytes and fibroblastic cells. The spindled areas may contain distinctive round or epithelioid cells containing vacuoles and intracytoplasmic lumens, suggestive of epithelioid hemangioendothelioma. There is no/minimal atypia and low/no mitotic activity. The spindle cells are immunoreactive for vimentin and actin, but are negative for CD34.
Spindle cell hemangiomas are benign lesions with no metastatic potential, although 60% recur. They are believed to be vascular malformations in which variation of blood flow causes alternating areas of vascular expansion and collapse (Am J Surg Pathol 1996;20:1196). Recurrences may represent contiguous spread along or multifocal involvement of a vessel.
The differential diagnosis includes cavernous hemangioma and Kaposi’s sarcoma. Cavernous hemangiomas lack the spindle cell component of spindle cell hemangioma. Kaposi’s sarcoma has honeycomb-like vascular spaces with interweaving, elongated spindle cells that are strongly CD34+, and rarely contains dilated cavernous vessels or epithelioid endothelial cells (Archives 2005;129:1187). The differential diagnosis may also include epithelioid hemangioendothelioma, due to the intracytoplasmic lumina.
1. Spitz JL: Maffucci syndrome. In: Genodermatosis, A Full-Color Clinical Guide to Genetic Skin Disorders. Baltimore, Md: Lippincott Williams & Wilkins; 1995
2. Weiss: Enzinger and Weiss’s Soft Tissue Tumors (4th Edition), 2001
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