A patient with Proteus syndrome is reported with heretofore unreported features including a frontal intraosseous lipoma and a lateral embryonal leg vein (Servelle) associated with a venous malformation. These associated anomalies further broaden the phenotypic variability of Proteus syndrome.
BieseckerL.G.HappleR.MullikenJ.B.WeksbergR.GrahamJ.M.Jr, Viljoen DL, Cohen MM, Jr. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.Am J Med Genet.1999; 84: 389–395.
5.
CohenM.M.Jr.Further diagnostic thoughts about the Elephant Man.Am J Med Genet.1988a; 29: 777–782.
6.
CohenM.M.Jr.Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever.Neurofibromatosis.1988b; 1: 260–280.
7.
CohenM.M.Jr.Proteus syndrome: clinical evidence for somatic mosaicism and selective review.Am J Med Genet.1993; 47: 645–652.
8.
CohenM.M.Jr.Perspectives on craniofacial asymmetry. VI. The hamartoses.Int J Oral Maxillofac Surg.1995; 24: 195–200.
9.
CohenM.M.Jr.Overgrowth syndromes: an update.Adv Pediatr.1999; 46: 441–491.
10.
CohenM.M.Jr.Causes of premature death in Proteus syndrome.Am J Med Genet.2001; 101: 1–3.
11.
CohenM.M.Jr.Proteus syndrome: an update.Am J Med Genet C Semin Med Genet.2005; 137: 38–52.
12.
CohenM.M.JrGiovanniN.WeksbergR.Overgrowth Syndromes.New York: Oxford University Press;2002: 75–110.
DahlinD.C.Bone Tumors. General Aspects and Data on 3987 Cases.Springfield, IL: CC Thomas;1967: 110–112.
15.
De BeckerI.GajdaD.J.Gilbert-BarnessE.CohenM.M.Jr.Ocular manifestations in Proteus syndrome.Am J Med Genet.2000; 92: 350–352.
16.
DeLoneD.R.BrownW.D.GentryL.R.Proteus syndrome: craniofacial and cerebral MRI.Neuroradiology.1999; 41: 840–843.
17.
Gilbert-BarnessE.CohenM.M.Jr, Opitz JM. Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in Proteus syndrome.Am J Med Genet.2000; 93: 234–240.
18.
GordonP.L.WilroyR.S.LasaterO.E.CohenM.M.Jr.Neoplasms in Proteus syndrome.Am J Med Genet.1995; 57: 74–78.
19.
GotoT.KojimaT.IijimaT.YokokuraS.MotoiT.KawanoH.YamamotoA.MatsudaK.Intraosseous lipoma: a clinical study of 12 patients.J Orthop Sci.2002; 7: 274–280.
20.
HaberlandC.PerouM.Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis.Arch Neurol.1970; 22: 144–155.
21.
HappleR.Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.J Am Acad Dermatol.1987; 16: 899–906.
22.
HoegerP.H.MartinezA.MaerkerJ.HarperJ.I.Vascular anomalies in Proteus syndrome.Clin Exp Dermatol.2004; 29: 222–230.
23.
Jamis-DowC.A.TurnerJ.BieseckerL.G.ChoykeP.L.Radiologic manifestations of Proteus syndrome.Radiographics.2004; 24: 1051–1068.
24.
KreiborgS.CohenM.M.JrSkovbyF.Craniofacial characteristics of Proteus syndrome: two modes of abnormal growth.Proc Finn Dent Soc.1991; 87: 183–188.
25.
MathesE.F.HaggstromA.N.DowdC.HoffmanW.Y.FriedenI.J.Clinical characteristics and management of vascular anomalies: findings of a multidisciplinary vascular anomalies clinic.Arch Dermatol.2004; 140: 979–983.
26.
McCallS.RamzyM.I.CureJ.K.PaiG.S.Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations.Am J Med Genet.1992; 43: 662–668.
27.
MilgramJ.W.Intraosseous lipomas. A clinicopathologic study of 66 cases.Clin Orthop Relat Res.1988; 277–302.
28.
MilgramJ.W.Malignant transformation in bone lipomas.Skeletal Radiol.1990; 19: 347–352.
29.
NahlesG.SchaeperF.BierJ.KleinM.An intraosseous lipoma in the frontal bone—a case report.Int J Oral Maxillofac Surg.2004; 33: 408–410.
30.
NguyenD.TurnerJ.T.OlsenC.BieseckerL.G.DarlingT.N.Cutaneous manifestations of proteus syndrome: correlations with general clinical severity.Arch Dermatol.2004; 140: 947–953.
31.
RizzoR.PavoneL.MicaliG.NigroF.CohenM.M.Jr.Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism.Am J Med Genet.1993; 47: 653–655.
32.
RosenbloomS.A.OsborneD.R.Lipoma of the frontal bone.AJNR Am J Neuroradiol.1985; 6: 833–834.
33.
ShuangshotiS.SuwanwelaC.SuwanwelaN.Congenital osteolipoma of the skull.Arch Otolaryngol.1982; 108: 454–457.
34.
SmallM.L.GreenW.R.JohnsonL.C.Lipoma of the frontal bone.Arch Ophthalmol.1979; 97: 129–132.
35.
SmeetsE.FrynsJ.P.CohenM.M.Jr.Regional Proteus syndrome and somatic mosaicism.Am J Med Genet.1994; 51: 29–31.
36.
TibblesJ.A.CohenM.M.Jr.The Proteus syndrome: the Elephant Man diagnosed.Br Med J (Clin Res Ed).1986; 293: 683–685.
37.
TomabechiM.SakoK.DaitaG.YonemasuY.Lipoma involving the skull. Case report.J Neurosurg.1992; 76: 312–314.
38.
TurnerJ.T.CohenM.M.Jr, Biesecker LG. Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.Am J Med Genet A.2004; 130: 111–122.
39.
WiedemannH.R.BurgioG.R.Encephalocraniocutaneous lipomatosis and Proteus syndrome.Am J Med Genet.1986; 25: 403–404.
40.
WiedemannH.R.BurgioG.R.AldenhoffP.KunzeJ.KaufmannH.J.SchirgE.The Proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.Eur J Pediatr.1983; 140: 5–12.
41.
YasudaY.TsukadaS.OkadaT.HasedaY.Intraosseous lipoma of the skull: a report of two cases.Ann Plast Surg.1987; 18: 74–80.
