Br. J. Derm. (1970) 82, 402. Stoke Park Hospital Group, Bristol, England NAEVUS SYRINOTOCYSTADKNOMATOSUS P A P I L L T F E R U S WITH SKULL AND BRAIN LESIONS, HEMIPARESIS, EPILEPSY AND MENTAL RETARDATION* J. JANCAR SUMMARY.—A case of naevus syringocystadenomatosus papilliferus of the left side of the scalp is reported in a severely mentally retarded female, aged 45, who has also an ipsilateral, extensive hyperostosis of the skull, atrophy of the cerebral hemisphere, coloboma of upper eyelid, with an adjacent dermoid growth. There is an area of cortical calcification in the post parietal region. She also suffers from rosacea, right sided hemiparesis, epilepsy and uvula bifida. NAEVUS syringocystadenomatosus papilliferus was originally described by Werther in I9i;{. and has since been re]K)rteilliferum. The (clinical features of tiie naevus are not constant. It may be present at birth or develoi) later in life. Its appearance varies from an irregular, fiat, grey or reddish area to a grey or dark brown, raised and cauliflower-like surface. Sometimes it is moist, fleshy or i)cdunculated and occasionally a verrucous plaque, or cysts may be seen. Naevus syririgocystadenoniatosus pajiilliferus 0('<^urs most commonly on the scalp, less frequently on the face, neck, axilla, ujjper back, abdomen and rarely on other parts of the body. About one-tliird of reported cases are associated with naovus sebacens and about one-tenth with basal cell carcinoma (Helwig and Hackney, 1955). We are reporting a case in which this lesion is associated with a number of other abnormalities. CASE REPORT Family history. The ages of the inotlicr and father ai the patient's hirth were 25 and 20 years respectively. Both parents are now dead; they were in good mental and ])hysical Iieaith, as are the patient's 2 sisters. As far as we were able to ascertain from rather scanty records, there is no history of physical or mental disorder on either side of th(^ family. Patient's history. The paticut was born in Ajiril, 19:;i 1; pregnancy and birth Accepted for jniblication October 2vSth, 1969. * A paper road to thp Second, International Congrcs.s of Neuro-Genetics and Neuri)-O]>htha]mology, , 1967. NAEVUS SYRIX(iO(:YSTAl)K.\()MATO.SL'.S I'AT'ILLIFEKUS 403 normal. Her birth weight was 3-63 kg. According to Ihc clinical liotow from Moorfields' Eye Hospital, she liad a congenital dermoid cyst on the scalp and a colol)onia of the left upper eyelid. There Mas also a polypoid growth adjacent to the cleft of the eyelid, ^\hicli was thought lo he a dermoid. At the age of 11 months she had surgical treatment for the eyst on the scal]> at Great Ormond Street Hospital. She was develo])ing well mentally and physically until ahout 2^ years of age, when she had a series of fits. According to her parents she \\as believed to have had encephalitis lethargica. Her fits were controlled but she gradually deteriorated mentally. When her parents were no longer able to look after her, she was admitted, at the age of 32 years, to Stoke Park Hospital. Since admission to the hos])ital her mental condition has remained moie or less static, but she has deteriorated physically and developed a right sided hcniiparesis, which handicap]ted her already defective gait and made her ])ractieally bedridden. Epilepsy is well controlled \\ ith phenobarbitoiie 60 mg. bd. Clinical examination. The patient is very obese; she weighs 7l'f)7 kg.; her height is 157-5 em. She is almost edentulous and has a high, narrow palate and l)ifid uvula. There is a naevus on the left side of the scalp, uliich is approximately 12 em. long and tapers in width from 2-5 cm. at the vertex to 1 cm. at the left temporal region. The size of the naevus has not altered since her admission to the hospital. It is a pinkish grey, caulifiower-like, moist and hairless plaque (Fig. 1). There is also a small cystic swelling (0-5 cm. X 0-75 cm.) just ahove the right frontal hairline and she has rosacea. There is a coloboma of the left upper eyelid with a laterally adjaeent pedunculated dermoid. A dense corneal leueoma eovers the lower lialf of the eye. The vision is very poor. The eyelashes ou the lower lid are very seanty and there is a left divergent strabisuuis (Fig. 2). Neurological examination reveals a right-sided liemiparesis. Mental condition (Terman-Merrill Form L. and M.): Mental age 2.11 years. l.Q. 19. Her com])rehension aud reasoning areslightlyabove her mental age. Her cerebration is very slow ancl her speech is defective but usually understandable. Investigations Blood. Eull blood couut. normal. W.R. and Kahn tests, nt^gative. Plasma urea, sodium, potassium, chloride and total ])r<)teins were within normal limits. Serum ealciuiu—9*0 mg./lOO ml. Inorganic phosphate—2-0 mg./lOOml. Alkalinephosjjhatase—1(1 K.A.units/lOOUll. Cliolesterol—27(hng./H)()ml. Urine. Routine examination revealed no abnormalities. Amino-aeid cliromatography showed normal patterns. A 24 hr. eolleetion of urine contained 0'52 G. of ereatinine and 12*3 mg. of total 17-Oxogenic steroids. Ce.rehro:spiiial jlvid. Clear, colourless fluid. Cells: red cells—4/em.^; white cells—3 lym])hocytes/em.3 Protein: 200 mg./lOO ml. W.R. and Kahu—negative. Hi.'itopalhoJ^iail exaviinatinii. The section from the I)io2)sy of the sealp lesiou reveals the presence of a clas-sical naevns syringoeystadenomatosus pa]iilliferus with a typieal double layer of nuclei. There is no evidence of any other cutaneous neoplasm. The section from the bio])sy of the eyelid shows ratlier irregular dermal fihrosis and mild non-specific chronie inflammatory cellular infiltration. 404 J. JANCAR A ir encephalogram. The septum jH'llucidum is a little to the right of the midline and tilted to the rijiht also. Tho left lateral ventricle i.s grossly dilated throiighout and there is gross atrophy of the left cerebral hemisphere. The right lateral ventricle is more normal in size and shape. The ¥i<:. '2. - riowe-up oi' tlie patient's ey third and fourth ventriclcH and aqueduct are normal in size. The left tein])oral hi)rn i.-^ (lisi)laced backwards a little. There is an area of cortical calcification in the post jiarictal region just to the right of the midline. There is also tnarked hone thickening in the left frontal region, ])articularly along the floor and the antero-lateral v^all ofthe anterior fossa (Fig. 3). Left rorotld angiogram. This M'as per- turmerl with some difficulty because ofthe mental condition ofthe patient. The iiitenuil earotid artery is .small and the n]>por limh of the siphon tapers off quite markedly. The anterior cerehral artery does not fill. The middle cerebral groupisgrosslydeficient, hut what branches there are appear to reach the inner table ofthe skull. There is an imiisual arrangement of the vessels in the middle fossa. The posterior jiarietal region is avascular. Tlie appearances suggest tliat the main lesion iinre is a vascular one, the main vessels heing poorly outlined and probably in the first place partially thrombosed. The parietal region aj)])ears to be almost entirely withont a hlood supply. Electroencephalogram. Moderate amplitude 2-3 c/s delta discharges were recorded Fifi. 3. A i r eiici'[)lialuyiiiiii i r \ r u l i n g d i l a t e d loft jjersistently from the left hemisphere and latoriil ventricle, faint wavy caleilieationabove Mere most pronounced and focal in the the right latf rai ventricle and thickened bone in left frontal region. left temporal region. Low amplitude, complex slow activity was present in many areas. The records were very abnormal and indicative of a loft-sided lesion, which is mainly affecting the left temporal structures. Cytological investigation. Buccal smears: Barr bodies were present. Chromosome analysis: A sample of .50 cells was examined. Forty-eight of these .showed 40 chromosomes with normal female karyotype. DISCUSSION A number of hypotheses as to the origin of naevns syringoeystadenomatosus papilliferus have been put forward by different authors, but its aetiology still remains obscure. NAEVUS vSYRINGOCYSTADKNOMATOSUvS PAPILLIFERUfi 405 Adenoma sebaceum, Darier's disease (Beerman, 1940), hidradenoma ])a])iiliferum, molluscum contagiosum, neurofibromatosis and other skin disorders may sometimes be mistaken for naevus syringocystadenomatosus ]iapilliferus. However, the site, the distribution and the liistopathological findings will clarify the nature of the lesion. In view of the presence of the naevus on the scalp, anomalies of the eyelid, skull, brain and the occurrence of epilepsy in our case, we originally labelled it as a i>ossible variant of the Sturge-Weber syndrome (Alexander and Norman, 1060; Brain, MMil). but histological examination of the naevus revealed the (correct diagnosis. However, we are unable, as yet, to trace in the literature a case with a similar combination of pathological lesions. I am must grateful to the late l^ord Brain, F.R.S., for his helpful advier*, to Dr G. ThonLson for the radiolof^ical invoHtigationw and to Dr -T. C. Briyg.4 for histopathological reports—both from Frfmchay Hospital, BriHtol. I at.^o wish to thank Dr K,.(. W. Lewis, Southmead Hospital, Bristol, for cytological studies and Mr« K. .f. Hisoock for secretarial work. .Addendum—fSiiK^c this j>aper was read at the Second International Congress of Neuro-Geneties and Neuro-Ophthalini)logy, Montreal, Sept('ml>er, 1067, 2 more eases in whieh cutaneous signs wore associated with severe mental retardatiim and epile])sy, have heen reported in the literature (Sugarman and Reed, 19(i9}. One patient had a naevus neljaceus of ttie mixed tyjie and the other had sogmental depigmentation of the face, not previously described in tlie literature. REFERENCES ALEXANDEit. G. L. and NOBM.\K, R. M. (1060) The Sturgc-Weher Si/ndroiti.e. Bristol: Wright. BKERMAN, H . (1049) Hypertrophic Darier'.s Di.'*ease and Xevu.s Syringoeystadenomatosus l'apilliferus. Histojiathologic Study. Arch» Derm. Sijph., 60. .')("). BiBER.STErN, H. (1926) tTher papilliforme Syrinjjoeystadenome. Arch. Derm. Sijph,, 152, (i(l2. BRAIN, W . R. (1961) Personal communication. HF.I.WT(I, E, B. and HAIRNKY, V. (J. (l!);')r») Syringadenoma Pa]>illiferum Lesions with and without Xaevus Hehaceous and Basal Cell Carcuioma. Aixhs Der»i.. 71, SOI. PiNKHs, H. (lil,5+) Life History (if Xaevua Syriiigadenomato.sus Papilliferus. Arch.i Derm.., 69, 3(>ri, RKITKRWAI.]., O. (1933) Naevu.-^ Syringo-Cystadcnomatous Papilliferus and its Relation to Malignaney. Arta path, mirrohiol. .'icaiid., Suppl.., 16. 376. SACHS, W . and Liiwis, G. M. (1937) Naevus Syringadenomatosns i'jv|iilli(erus (Werther). Report of 5 Casos. Arehfi Derm,, 36, 1202. SijfiARMAN, G. I. and REKH, W. B . (19fi!)) Two Unusual Xeuroeutaneinis Disorders with Facia! Cutaneous Signs. Arrhi \rnrol.. 21, 2+2. WKRTHKR, L. (1913) Syringadenoma Pa|)illiferum. (N'aevus Syringadenomalosus Papilliferus.) ArrI). Derm. Sifpli.] 116, ^60.