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[Maffucci syndrome: a false venous malformation? A case with hemangioendothelioma with fusiform cells]
O Enjolras1, M Wassef, J J Merland
1Laboratoire d'Anatomie Pathologique, Hôpital Lariboisière, Paris.
Background:
Maffucci syndrome occurs as a sporadic disease. Progressive onset of both cutaneous vascular lesions (considered to be of venous type) and bony enchondromatous tumors (similar to those seen in Ollier disease) occurs throughout childhood. We report a case of a woman with Maffucci syndrome whose cutaneous vascular lesions revealed spindle cell hemangioendothelioma.
Case Report:
An italian woman developed severe bone distortion and dwarfism due to multiple enchondromas, first diagnosed as Ollier disease during childhood. At puberty, multiple vascular nodules appeared mainly on the limbs, leading to the diagnosis of Maffucci syndrome. Clinical data suggested the diagnosis of cutaneous venous anomalies: blue color of some nodules, phleboliths, arteriographic pattern. Histopathological examination of the skin specimen showed features of spindle cell hemangioendothelioma, e.g. nodules of dense spindle cell infiltration in combination with dysplastic vessels.
Discussion:
The few reports available do not clearly evidence the underlying histopathology progression of the lesions over years in a given patient. Skin lesions are classified among venous malformations. Bony enchondromatous involvement of the limbs is common and reported in 9 out of 10 patients. Both vascular and bony lesions classically develop from childhood to adulthood. Spindle cell hemangioendothelioma is a vascular tumor recently described. Cellular spindling in association with vascular spaces must not be misdiagnosed as Kaposi sarcoma. Some of the reported cases of spindle cell hemangioendothelioma had Maffucci syndrome. It is unknown whether Maffucci syndrome occurs in association with venous malformation or whether it is always present in the cutaneous vascular lesions of the disease.
Insights
Maffucci syndrome, a rare sporadic disease, presents with vascular lesions and enchondromas. This case highlights spindle cell hemangioendothelioma as the underlying pathology in cutaneous vascular lesions of Maffucci syndrome.
Area of Science:
- Vascular biology and oncology
- Dermatology and orthopedic pathology
- Rare genetic and sporadic diseases
Background:
- Maffucci syndrome is a sporadic condition characterized by enchondromas and cutaneous vascular anomalies.
- Lesions typically manifest during childhood and progress into adulthood.
- This report focuses on a unique case presenting with spindle cell hemangioendothelioma.
Observation:
- A patient with Maffucci syndrome developed bone deformities and dwarfism, initially diagnosed as Ollier disease.
- Cutaneous vascular nodules appeared during puberty, leading to a Maffucci syndrome diagnosis.
- Histopathological examination revealed spindle cell hemangioendothelioma in the skin lesions.
Findings:
- The cutaneous vascular lesions in this Maffucci syndrome case were histopathologically identified as spindle cell hemangioendothelioma.
- This contrasts with the typical classification of Maffucci syndrome's vascular lesions as venous malformations.
- The findings suggest a potential link between Maffucci syndrome and this specific vascular tumor type.
Implications:
- This case expands the understanding of the histopathological spectrum of Maffucci syndrome.
- It emphasizes the importance of accurate diagnosis of vascular tumors to differentiate from conditions like Kaposi sarcoma.
- Further research is needed to clarify the precise relationship between Maffucci syndrome and spindle cell hemangioendothelioma.