Journal of Neuro-Ophthalmology, December 1982, Volume 2, Issue 4

The cutaneous manifestations of Sturge-Weber syndrome.

The Sturge-Weber syndrome is characterized by the presence of a leptomeningeal hemangioma variably associated with a facial nevus flammeus, seizure disorder, mental retardation, hemiparesis, homonymous hemianopsia, glaucoma, and other signs and symptoms. The relationship between the cutaneous manifestations and the other features of this disorder was studied in 35 patients. We observed that all patients with the facial nevus flammeus had involvement of the upper eye lid or forehead. Bilateral cutaneous involvement was common and when present, was often associated with extensive lesions of the trunk and extremities. The distribution of the cutaneous lesions appeared to be unrelated to that of the trigeminal nerve. A subgroup of patients, the syndrome's ""forme fruste,"" were identified. There appeared to be no relationship between the presence and extent of the cutaneous lesions and the observed seizure disorder, difficulty of seizure control, intellectual deficit, hemiparesis, homonymous hemianopsia, and intracranial calcification. Notably, the ""forme fruste"" patients appeared to be spared from glaucomatous involvement and from choroidal hemangioma. We will also discuss other aspects of this syndrome.

,. C/ill. Neufll-,'phth,llnll'(. 2: 245-241', 1<)82. The Cutaneous Manifestations of Sturge-Weber Syndrome MARTIN URAM, MD., M.P.H. CARLOS ZUBILLACA Abstract The Sturge-Weber syndrome is characterized by the presence of a leptomeningeal hemangioma variably associated with a facial nevus f1ammeus, seizure dis­order, mental retardation, hemiparesis, homonymous hemianopsia, glaucoma, and other signs and symp­toms. The relationship between the cutaneous mani­festations and the other features of this disorder was studied in J5 patients. We observed that all patients with the facial nevus f1ammeus had involvement of the upper eye lid or forehead. Bilateral cutaneous in­volvement was common and when present, was often associated with extensive lesions of the trunk and ex­tremities. The distribution of the cutaneous lesions appeared to be unrelated to that of the trigeminal nerve. A subgroup of patients, the syndrome's "forme fruste," were identified. There appeared to be no rela­tionship between the presence and extent of the cuta­neous lesions and the observed seizure disorder, diffi­culty of seizure control, intellectual deficit, hemi­paresis, homonymous hemianopsia, and intracranial calcification. Notably, the "forme fruste" patients ap­peared to be spared from glaucomatous involvement and from choroidal hemangioma. We will also discuss other aspects of this syndrome. Introduction Sturge-Weber syndrome is a condition charac­terized by a facial nevus flammeus and ipsilateral leptomeningeal angiomatosis with abnormalities of the underlying cerebral cortex. Mental retardation, seizure disorder, intracranial calcification, choro­idal hemangiomas, and glaucoma have been con­sidered additional stigmata of this disease. We examined the characteristics of the cutaneous le­sion of Sturge- Weber syndrome and its relation­ship to the other facets of this disease. Historically, Schirmer' published the first case report of a "port wine" facial hemangioma associ­ated with ipsilateral "varicosities" of the retina and "hydrophthalmos." In 1879, Sturge~ reported ,1 From the Retinal Service, M'lIlh,'ll,"' r:ye, L". ,1no Thfll,lt Hospital. New York. New Y,.rk. December 1982 child with focal motor seizures and a "port wine mark" on the contralateral face and trunk. He speculated that a "port wine mark" would be found on the surface of the brain, and that it was the cause of the child's "fits," rather than an "inherent instability of the gray matter." Kalischer," in 1897, produced histopathologic confirmation of Sturge's <lssumption in <I c<lse of a child with clinical find­ings similar to those reported by Sturge and Schirmer. In 1929, Weber' published skull x-r<lYs of <I patient with the classical double linear intra­cranial calcifications <lssociated with Sturge-Weber syndrome. Peterman" reported five of 35 cases who had leptomeningeal angiomas as well as many of the c1inic<l1 stigmata of Sturge-Weber syndrome, but without the cut<lneous manifestations. representing the "forme fruste" of the disease. The absence of the cutaneous manifestations has been reported by a number of additional investigators:;-III and would appear to represent a legitimate variation of the Sturge-Weber syndrome. Materials and Methods Thirty-five patients of the Boston Childrens' Hospital Medical Center, were identified with Sturge-Weber syndrome between 1935 and 1078. All patients demonstrdted the presence of <I me­ningocortical hemangiomd. either radiogrdphicallv or at surgery. D,lt,l reg.uding the loc,ltion ,1Od extent of the cutaneous lesions, the characteristics of the seizure disorder, neurologic deficits, oph­thalmic findings, and intellectual development were recorded. The follow-up period ranged from II months to 30 years, with ,1 me,1O follow-up of 7 years. Results Of the 35 p,ltients studied, 14 p,ltients were male and 21 were female. All p,ltients were white. The ages of the p,ltients when fi rst seen ranged between the newborn period ,md 18 years. None of the patients h,ld ,1 bmily history ~f bcial nevus flam­meus, seizure disorder, or radiologic evidence of cerebr,ll calcification. 245 ~lllr}:('- W..l",r Syndnlllll' 1",\1111 I lli,lri!>ulion "I N.,vu, r1dl11llll"" TABLE 2. Sl'izurl' Disordl'r Conlrol Facial Nevus Flammeus Thirty of 35 patients (85.7°;(,) presented with a f,lCi.11 hel11.1I1giol11a. The distribution of the leSIOn W.1S found to be heterogeneous (T.lble I). In all but ,)(le ose, the upper eyelid was involved, and in the single exceptional case, .1 midline forehead heman­gi.) 111.1 was present. 01'.11 dnd gingival mucosdl involvement was seen in threc patients. It should be noted th.lt one-h.1If of the patients with the "unilateral" facidl hem.1I1giol11.1 h.1d extension of the lesion .KroSS the midline. Additionallv, p.1tients with bil.lter.11 facial hel11.1I1gioI11J~ tended to have extensive lesions on the neck, trunk and extremi­ties. Those with unilMer,]1 facial involvement, how­ever, tended to have these lesions confined to the face (Table I). r.ltlt:nt ... .\1 ~ ~l,~ reru:'nl 5 IS 5 15 ;- " S 25 32 00 Hd.J1"I.lI 1.IlI' ,\lld Irtlllk I.~ 1~Ii.l!l'l.d l.h t' Pili" 1\1~~hl III Idl h.dl til I.H t' wllh Inlllk .~ 11l\'III\TIllt'1l1 Righi til It'll h.dlnl Lht', 1I1l1runk IJ '''\'t,I\'''l1h'''' f\:t l tlll.lIu·Pl .... I,·... itlll I\ladl"1<' 1." .. 11 ""Iv N " l'I'rll'll! .~·I q _~7 11 .~ 100 Lt·...... th~Jtl lIfH' ...eizurt· /yl'.H Ml1re thJn (InC' ...eizur('/yeJr Hil ..lt(·r.d t utJn('ou ... invnlv('mcnt JI1J r\'J WIth nll'J, Hd.lll·r.d t ut.JJl('OU'" IJlvl,l\'{'mcnt ~1I1d n.·J With <"urgl'ry L..:nd.lll·r.d t ulJnetlu'" Invulvement .lnJ r\'d wIlh ml·J, L'ndJtl'r.JI I ul.lnl·( llh Il1vulvement ,1nJ f\ 'J \vlth ...urg('ry ,\:\1 I ut.Jllt'I'Uo." In\'ldv('m('l1t dnd f\ '.1 With Tlll'd ... ,~ll I ut.IIU'IIUo." IIl\,c.!\,('m('llt Jnd n. 'J \'\'Ith ... urgerv ['ABLE .~ Intl'lIl'clual Ddicil" '\rrr,'rn,lIC gr,ldc IC\'cl "rrr"rn,ll" >:r.ldc Ic",,1 \\llh I~Jrn-ln~ dl ....lblllty H"rdcrl,nc Mddh· rd.Hdcd I\h,dcrJlch' I" rr"i,'ul1dl" relJrded 17 17 5 b 2 2 N 34 Percent 50 50 , '\' me."ur"d rweh,'m"tneJIJ" .md rJnkcd b" the :\ml'riedn 1'''YI..·hl.ltrtl. ,-\~~I\dJtILln. n~ t~-II T..\BLE ~ Dislril:>ution of Cutaneous Ll'sions in Patil'nts with Morl' Sl'verl' Intl'lIl'ctual Dl'ficils Seizure Disorder All of the patients (q7%) but one had .1 seizure disorder, .lf1d 80% of these p.ltients demonstrated such activity by I yeM of age. Specific seizure type could not be correlated with the 1.1ter.llity or extent of the cutaneous lesion. . Five patients who had focal epilepsy .lf1d typiC.ll intracranial c.llcifications were included in this study, despite the .lbsence of thc bci,]1 hCI11.1l1­giom, J. In four of thcm, the presence ,)f thc l11en­ingocortic. 11 lesi,)n W.IS confirmcd .It (f,]niotonw Seizure Control AdeLju.1te d.lt.1 lVere .lv.1i1.1ble ,)n J-t p.lIicnt~ .1I1d i<, <,umm.Hizcd in T.1blc 2. Only ,'nl' p.1ticnt in thl' gn1up with l11ort' th.ln .'Ill' ~l'izurc pl'r yC.lr \\'.lS found ttl h.lVl' .1 ch,'r"id.ll IWI11.lngi,)1ll.1. ~ h'Jt'r.l1l' tt..' prl.\tl\UnJ Jctl(lt~ Rd.ltl'r.ll l ULHWl'll" 11l\'l,h'l'nl('nt L'IlIJ.ltl'r.ll ":llt.lnel\U~ 11l\·l'!\"('IlH.'nt :\\.1 I. ul,lIlCI.'lb 11l\·\.'!vcmcnt S 3 ~ I Intellectual Deficits D.lt.1 weI''' .Iv.lil.lblc ,'n 32 p.1til'nts, .111.1 is SUIll­Ill. lrized in T.lbll·<' 3 .1I1d -to Motor Deficits Sl'Vl'r.. IWlllip.ln'<,i<, IV.I<, 11Ilt hlun.1 in this gwup, but minor IlHltllr <,igll<' \\'l'r...kll'dl'.1 in 21 of 32 l',llll'llh (l'SS";,) (Llbl .. 5). 1\'rlcrH .\.. RII.,tl'f.,1 llnd.lh·r.ll NI.'ne ~h,tt.'r dl'fll'lt l'\5 . .3 21/32 7 11 3 t·i"'llhl1\YIl\\.)lI~ H 11/25 .f 0 hl,.1l1.l11\.lP"",\ ... I.Hllt.l l1l.1 .f~ 11/20 0 5 0 Ch,>r,>,d.,1 hell)· .~ I 8/~t."'l 3 5 0 .,n~it.\n'~l In ... heh.'fl'- 12 3/20 2 0 d",rl'nll ..l Journal of Clinical Neuro-ophthalmology Ur,lnl, Zubillaga Intracranial Calcification Glaucoma Visual Fields !'U'V,dl'llll' N (I'tOn l'n!) <17 34/35 1'\5 30/35 ()() 21/32 (125 20/32 44 1//25 ,j2 11/2b -'I 8/2(' 25 P,/32 I 1.5 -,/2l' ( 11111' ,d l!lalrr!)', 1'1'1/llIl'di·->iIl"i.lt-r I.ll i.1I lll'rn,1I1git1111.1 I fl'llllp.lrt·.,j·, 11111.11 Lllli.1I 1.1111111.1111111 IlcllllllllVll1l1ll .... IH·l1l1.HHlp.... i.1 (,I.!tll tl1ll,1 ( IHI I"llI ll.lI 1ll'111.1I1gItJlll.l Mpd('r,lll' III proitlulld 1I1!l'lIf'l- Ill," ddl<il In... hdt'rntIHtlllll., I Ailil 7. SlIl1l1n.uy of Clinic,,1 Finding' in SllIrge-Weber Syndrome Seizures, .1S ,1 rule, will not begin for several ll111nths. The data suggests that sparing of the upper eyelid and forehead would be a clinical point against the presence of Sturge- Weber syndrome. This study, indicating the pattern of the cutaneous hemangioma is greatly varied, and does not con­form to any known neural or vascular distribution. Furthermore, the occurrence of bilateral facial in­volvement is common (one-third of cases) and extension over the midline was observed in many of the patients demonstrating a predominantly uni­lateral hemangioma. Therefore, the traditional con­cept of the trigeminal distribution of the cutaneous lesion should be abandoned, an opinion that has been previously expressed by Alexander. II Forty percent of the patients in this study had the cuta­neous hemangioma on some part of their body other than the head or neck, and almost all of these patients had bilateral facial involvement. However, bilateral facial hemangiomas did not imply the presence of bilateral meningocortical disease. The absence of the facial hemangioma does not pre­clude the diagnosis of Sturge- Weber syndrome. However, the cutaneous hemangiom.1 appea rs to be the first clinical manifestation of the disorder. Seizure disorder of ,1 severe nature has been .1 classical component of the syndwme. The d,lt,l indic,lte that, while this is the most ll)mnlL1nly observed symptlHlI, fully 50% l>f the p,ltients lVer~ well contwlled on medic.1tilHl ,l"me. Only four patients in this series dell1Onstr,ltl.'d intr,lct,lble sei­zures requiring Surgic.ll interventi~m. There ,1p­pea red to be no reldti'lllship between the severity of the seizure disorder .1Ild the e"\tent ~1f the cut,l'­neous hem,lIlgiom,l. Profound ment,ll ret,Hd.1tilHl h,lS been consid­ered ,lI10ther CI,lssic,ll finding in this syndrome; however, the lbt,l indic.lte th,lt 75% l>f th~ p,ltients functioned in till' norm.ll-t,>-mildly rct.Hdcd r.lI1ge. The extent of the cut,lnc,>us lesil>ns ,lppe,us t~> be unrel,lted tll the severity of the intellectu,ll deficit. Hemip.Hesis ,1I1d homonymous hemi,lIlopsia were common findings ,1mong these patients, as were the presence of intrau,lIli.ll calcification. Ag,lin, the extent of the cut,lIleous hemangioma 2 2 5 5 7 II TABLE /) Location of Facial Hemangioma Compared to Location of Intracranial Calcification Choroidal Hemangioma Eight p.llients (30.g"~,) demonstr,lted a choroidal hem.lI1giom,1. All were fl)und to h,lVe glaucoma in the \I1\'l>h'ed eve. No "forme fruste" patients dem­onstrated a choroidal hemangioma (Table 5). TWl'ntY-si"\ p.ltil'nls underwent l"lllllpll'tl' llph­thalmic l'"\.lmin.ltil'lls, .lnd II p.ltil'nts (42.3%) Wl'rl' found tl> h.1\'l' gl.llIl'l>m.l. Si"\ l>f these p,ltil'nls h.ld unil.ltl'r,ll f.lci,ll hl'm,1I1gil'm.ls ,1I1d five h.1(1 bil.lt­er. ll CU!.llll">US Icsi,>ns TIVl' p,ltil'nls h.ld hi 1.1 tl'l',l I gl.llIl'l>m,1 ,1I1d bl,th h.ld hil.ltl'LII L1l'i,11 IWIll.1I1­gi, 1m,lS. In ,111 hut three, c1ll'rl>id,11 1ll'Ill.lI1gil>m,ls were dl'tl'cll'd Additi,'n,lllv, iris 1ll'tl'wchwllli,1 \\"1" f,>und in three l>f the gl.llll'l>m,l p.ltil'nts; tWl> with bd,llt'r,ll f.lci,lllc"il>ns, .1I1d l>nl' with und,ltl'r,ll findings. N,> p.ltil'llls with the "fl>rnll' fruste" l>f Sturge- \ \'l'her sVlldn>l1lc wl.'re fOllnd to h.lVe gl.lU­( l1m,1 l>r iris hl'retl1chrl>mi,1 (T,lhlc 5). Discussion The diagnosis of Sturge-Wcber syndrome m,ly first be suspected when a facial nevus flammcus is found in a newborn. The neurological abnormali­ties, however, are seldom apparent at the time. YiSU.ll fil.'ld testing W.1S .KClllllplisl1l'd in 25 p.l­tients, .1I1d .In hllnlllnynlllUS 11l'llli.ll111psi.1 W,lS found in 11 (44'':,). This d.lt.l is sUIllIll,uizl'd in T.lble 5. Thirty-two patients in the series had adequate radiologic data available. Twenty of them (62.5%) had the typical double linear calcifications c1assi­callv associated with Sturge-Weber syndrome, and they were most often found in the parieto-occipital region. This data is summarized in Table 6. Through the use of serial x-rays, it was observed that the mean age at which calcification was first noted was 7.2 years. A compilation of the clinical findings in these patients may be found in Table 7, Unilateral nevu<, or,i1"ter,,1 ",I"fi",- tion Unilateral n('vu<, n" ukif'(Jli"n UniiatcrJI uJlcifl<'~ltilin. rlll nl'VUL, Bilaleral n('vu<, bilJlrJI ("I,ifi,.,li"" Bilat!'ral n<'vu<, unil,lll'r"I",I, iii",li,." Bilaterdl ncvu~, nl) l.lll ifil ..,tioll December 1982 247 ~t urge- Weber ~YlldrullH' .1ppe.Hed to be unrel.JtC'd to the prC'~enceor severity ,If these findings. Only the ophth.llmic findings .lppe.lred to Dear some rel.ltionship to the cut.lIleous 111,lIlifestations. Specificllly, those p.ltients with the "forme fruste" of Sturge- Wd1l'r syndrome did (wt have glau­com. 1, dl\lwid.ll lll'm.lngiolll.1S, or iris hereto­dH, lllli.l. The pn1gnosis for these patients would .1ppe.H to be lll'ttC'r in th.lt they do not have to nmtC'nd with potenti.llly dl'bilit,lting ocular dis­(', lse. Furthl'rnwrl', .111 r,ltil'nts with choroidal hl'­m. lIlgi'"11.1S h,ld gl.llIcom.l in the involvl'd l'ye; hl1wever, several of the Sturge-WebC'r syndrome p.1tients with gl.lUC0l11.1 did not dC'l11onstratC' a cho­roidal hem,lIlgioma. Two patients with bilateral facial hemangiomas ,1Ild l'xtensive involvC'ment of thC' trunk, werC' found to have glaucoma and choroidal heman­giom, ls bilaterally. When confronted by the patient with bilateral cutaneous involvement, considera­tion should be given to the presence of a significant bilateral ocular disorder. Summary Thirty-five patients with the Sturge-Weber syn­drome were extensively studied, and a number of observations were made. First, the earliest mani­festation of this disorder appears to be a facial nevus flammeus involving the upper lid and fore­head. The finding of latest onset appears to be the development of the typical double linear intracra­nial calcification. Second, seizure disorder ,1ppears to be the most common symptom of this disorder, but was typically not of a severe nature. Third, a significant proportion of these patients function in the normal-to-mildly retarded range. Fourth, there was no correlation between the extent of the cuta­neous manifestations of the disorder and the pres­ence and severity of seizure disorder, seizure con­trol, intellectual deficit, hemiparesis, hemianopsia, and intracranial calcification. Fifth, patients with the "forme fruste" of Sturge-Weber syndrome (i.l'., the absence of cut,lneous manifest.1ti,)JlS) .11'­pear to be spared the ocul.lr complic.1ti'lns llf this disorder (choroidal hemangioma, gl.llICom.1, .1Ild iris heretochromi,l). Fin,llly, while the presence 'If ;.1 v bilateral cutaneous hemangiomas does not imply bilateral meningocortical involvement, considera­tion should be given to the existence of bilateral choroidal hemangiomas and glaucoma. References I. Schirmer, R.s.: Ein Fall von Teleangiektasie. AI­brpcht v. Graefes. Arch. Ophthalmol. 7: 119, 1860. 2 Sturge, W.A.: A case of partial epilepsy apparently dup to d lesion of one of the vasomotor centers of the brain. Trans. Clin. Soc. Land. 12: 162-167, 1879. J. K.:discher, 5.: Demonstration des Gehrins eines Kindes mit Teledngiectasie der einksseitigen Ges­Icht~- Kopfhaut und Hirnoberflache. Ber!. KJin. Wschr. 34: lO59, 1897. 4. Weber, F.f'. Right sided hemi-hypertrophy resulting from right sided congenital spastic hemiplegia, with a morbid condition of the left side of the brain revealed bv radiograms. }. Neural. Psychopathol. 3: 134, 1922. 5. Peterman, AT, Hayles, A.B, Dockerty, M.B., and Love, J.G.. Encephalotrigeminal angiomatosis (Sturge- Weber disease) Clinicdl studv of thirty-five cases. rA.MA. ]67: 2100-2170,1958 o. Longo, G.: Sulla molatu di 5turge-Weber. Archive dl Radiolc)gicd 23: 09, 1940 7. Dl Chiro. G: RddlOgraphic findings in 14 cases of Sturge- Weber Syndrome. Actd RddioJ. (Stockholm) 35: 387, 1051 8. Livingstone,S: The 5turge- \!\'eber syndrome. Post­grad. Med. ]9: 221, 1050. o Lichtenstein, B. v\' .. dnd Rosenberg, C: 5turge-We­ber- Dimitri disedse: Report of abortive case. r Neu­ropdth E~p .\'euwl. 6: 30°-382,1947 10. Huber. K.. dnd Zwevmuller, E.. Monosvmptoma­tische Form des Kreukheitsbildes von 5turge-We­ber. \ \·ein. Z .\'eryenheilJ.. 9: 450, 1°54. II Aleunder. G.L. and :'-:orman, RM.: The Sturge­Weber 5\'ndwme. hlhn Wright and Sons, Ltd., The 5tonebridge Press. Bristol. Engldnd, 1900. Acknowledgments VVt' w,)uld lil-.e t,l th.lnl-. Drs. T.D. Duane and Edward I.leger f,)r their .1Ssistdnce and criticism. \ \'ritc t,)r reprints t,1: Mdrtin LJrdm, M.D., 788 Broad 5trt'c!. 5hrt'wsbury. l\:ew Jersey 07701. Journal of Clinical Neuro-ophthalmology [VBsturgeweber]