Head and Neck Manifestations of Maffucci's Syndrome

Maffucci syndrome with the spindle cell hemangiomas in the mucosa of the lower lip: a rare case report and literature review

“…Additionally, reported vascular lesions of Maffucci syndrome have been mostly located in the subcutaneous tissues and have presented as blue nodules that can be emptied by manual compression, 15 while this case presented involving the mucosa of oral cavity. We reviewed all of the English language literature and found only nine cases of vascular lesions presenting in noncutaneous regions ( Table 2), including liver, spleen, ascending colon, rectosigmoid colon, ileum, anal canal, tonsils, esophagus, tongue, hypopharynx and lower lip, 3,12,15 -21 of which only one showed 15 23/M Tongue Cavernous hemangiomas AWD 1 year Lee et al 17 10/F Hypopharynx and ascending colon NA NA Perniks et al 12 NA Spleen Low-grade angiosarcoma AWD 18 years Wolf et al 18 7/M Tonsils Cavernous hemangiomas AWD 1 year Laskaris et al 3 24/M Tongue Cavernous hemangiomas AWD 3 years Lowell et al 19 27/F Hypopharynx Cavernous hemangiomas AWD 4 years Hall et al 20 30/M Rectosigmoid None AWD 15 years Sakurane et al 21 31/F Hypopharynx, esophagus, anal, ileum and lower lip Cavernous hemangiomas AWD 1 year AWD, alive with disease; F, female; M, male; NA, not available.…”

“…Additionally, reported vascular lesions of Maffucci syndrome have been mostly located in the subcutaneous tissues and have presented as blue nodules that can be emptied by manual compression, while this case presented involving the mucosa of oral cavity. We reviewed all of the English language literature and found only nine cases of vascular lesions presenting in non‐cutaneous regions (Table ), including liver, spleen, ascending colon, rectosigmoid colon, ileum, anal canal, tonsils, esophagus, tongue, hypopharynx and lower lip, of which only one showed malignant change (11.1%), and there was no difference in the rate of malignant change between the cutaneous and non‐cutaneous vascular lesions with Maffucci syndrome.…”

Is Ollier's disease an understaging of Maffucci's syndrome?

“…It is believed to be a congenital mesodermal dysplasia and like Ollier's disease has no race nor sex predeliction. The vascular malformations occurring in Maffucci's syndrome are often present at birth, do not enlarge out of proportion to body size, and do not regress as is typical of congenital haemangiomas (Huvos, 1979;Lowell and Mathog, 1979).…”

“…Tumour origin in the skull base has been described in the basi-sphenoid, foramen lacerum, parasellar region, ethmoid and sphenoid paranasal sinuses and in the nose (Lowell and Mathog, 1979;Reuter and Weber, 1981;Pfleiderer et al, 1991). To our knowledge, petrous apex involvement in multiple enchondromatosis has not been documented previously.…”

“…Both of these conditions may arise in the head and neck region and are occasionally encountered by the ENT surgeon. In reviewing the literature on Maffucci's syndrome Lowell and Mathog (1979) described the head and neck manifestations in 12 cases of Maffucci's syndrome with basisphenoid enchondromatosis manifesting in six subjects, enchondroma in the sphenoid in one and in the mandible in another. One patient had tracheal haemangiomas, two had haemangiomas in the hypopharynx and the 12th subject had nasopharyngeal haemangiomas.…”