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Unilateral Mosaic Cutaneous Vascular Lesions, Enchondroma, Multiple Soft Tissue Chondromas and Congenital Fibrosarcoma— A Variant of Maffucci Syndrome?
Author(s) -
Katz Peter,
Colbert Rand,
Drolet Beth
Publication year - 2008
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2008.00635.x
Subject(s) - enchondroma , medicine , pathology , chondroma , osteonectin , angioma , soft tissue , chondrosarcoma , vascular disease , surgery , biology , biochemistry , alkaline phosphatase , osteocalcin , enzyme
The coexistence of enchondromas and vascular lesions characterizes the principal feature of a rare congenital condition known as Maffucci syndrome. We present a 20‐year‐old male with a mosaic distribution of vascular malformations and atrophic overlying dermis and subcutis. Enchondroma and multiple periosteal chondromas of the ipsilateral limb led to the working diagnosis of Maffucci syndrome. Of interest, this patient also has a history of congenital fibrosarcoma with concomitant thrombocytopenia. To our knowledge this is the first report of this constellation of findings, which may represent a form of mesenchymal mosaicism analogous to the Blaschkoid distribution of other genodermatoses.