When the disease is associated with haemangiomas of overlying soft tissue, it is called Maffucci
In addition to Sturge-Weber syndrome, this category includes such rare entities as Klippel-Trenaunay syndrome (CM + VM +/- LM + limb overgrowth), Proteus syndrome (CM, VM and/or LM + asymmetric somatic overgrowth) and Maffucci
syndrome (VM +/- spindle cell hemangioma + enchondroma).
Also shown (from left) Joseph Norton, Michael Maffucci
and Larry Armstong.
(1,2) Several theories like primitive cartilage forming mesenchyme, chondroblastic differentiation, synovial intimal cells, past surgical or traumatic insult, inhalation of chemical carcinogens, (1) multiple hereditary exostoses, intravenous thorotrast, previous irradiation, Maffucci
syndrome, and Ollier disease (4) have been postulated, but none has been considered satisfactory.
Approximately 10% of cases are associated with other developmental anomalies or syndromes, including early-onset varicose veins, lymphedema, Klippel-Trenaunay-Weber syndrome, Maffucci
syndrome, epithelioid hemangioendothelioma, and superficial cutaneous lymphatic malformations .
One patient had 3 lesions (lingual) and 1 had multiple lesions located on the tongue, submandibular region, and vocal cords; 1 patient with Maffucci
's Syndrome (MS) had several VMs originating from various parts of the oral cavity and the oropharynx (lingual, buccal, lingual base, soft palate, uvula, tonsillar pillars, and vallecula).
Lymphangioma may occur in association with hemangioma in Maffucci
's syndrome (7) or, as in the present case, be confused with hemangioma because of the presence of blood-filled spaces.
et al., "Pharmacokinetics of caffeic acid phenethyl ester and its catechol-ring fluorinated derivative following intravenous administration to rats," Biopharmaceutics & Drug Disposition, vol.
Two cases occurred in younger males, aged 34 and 35, with Maffucci
Syndrome, a rare disease in which diffuse enchondromatosis and cutaneous hemangiomas occur throughout the body [18, 20].
, Iraq and Afghanistan Veterans of America; retired Army Capt.
From Inspiralize Everything by Ali Maffucci
(Ebury Press, PS14.99).
Table 1: Classification of Macrodactyly with Associated Conditions Subtype Associated Distinguishing Conditions Features True Proteus syndrome Connective tissue nevi, Macrodactyly epidermal nevi, disproportionate growth False Ollier's disease Enchondromatosis, Macrodactyly cerebral tumours Maffucci
's syndrome Enchondromatosis, haemangioma Milroy's disease Congenital lymphedema Klippel-Trenaunay Port wine haemangioma, syndrome varicose veins, soft tissue/bone hypertrophy Vascular malformati on Neurofibro matosis Table 2: Review of Literature of Macrodactyly Sl.