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- Title
Lower limb lymphangioma circumscriptum: The guiding sign for the diagnosis of Maffucci syndrome.
- Authors
Martínez‐Doménech, Álvaro; Esteve‐Martínez, Altea; Pérez‐Pastor, Gemma; Sánchez‐Carazo, Jose Luis; Pérez‐Ferriols, Amparo
- Abstract
Maffucci syndrome is a rare condition that affects the skin and bones, particularly the limbs. It is characterized by multiple enchondromas (benign bone tumors) and lymphovascular proliferations, such as hemangiomas and venous malformations. Lymphatic malformations, specifically lymphangiomas, have been reported in a few cases. The syndrome is associated with genetic mutations and carries a risk of developing various malignancies. The article presents a case of Maffucci lymphangioma syndrome in a woman with lesions on her lower limb. A skin biopsy confirmed the diagnosis, and genetic testing revealed a mutation associated with Maffucci syndrome. The authors emphasize the importance of recognizing this condition and conducting appropriate follow-up due to the risk of malignant transformation and other malignancies.
- Subjects
SYNOVIOMA; LYMPHANGIOMAS; DIAGNOSIS; SYNDROMES; SOMATIC mutation
- Publication
Australasian Journal of Dermatology, 2024, Vol 65, Issue 4, pe108
- ISSN
0004-8380
- Publication type
Article
- DOI
10.1111/ajd.14229