Unilateral mosaic cutaneous vascular lesions, enchondroma, multiple soft tissue chondromas and congenital fibrosarcoma--a variant of Maffucci syndrome?
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.
Katz
Peter
P
Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA. pjkatz@mcw.edu
Colbert
Rand
R
Drolet
Beth
B
D000328:Adult; D001365:Axilla; D001706:Biopsy; D020405:Dermis / Q000098:blood supply; D003937:Diagnosis, Differential; D004687:Enchondromatosis / Q000175:diagnosis* / Q000473:pathology; D005354:Fibrosarcoma / Q000151:congenital / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013684:Telangiectasis / Q000151:congenital / Q000175:diagnosis; D054079:Vascular Malformations / Q000175:diagnosis; D014680:Veins / Q000002:abnormalities*