British Journal of Ophthalmology, 1987, 71, 268-272

Ocular findings in linear sebaceous naevus syndromeMICHAEL S INSLER AND LANCE DAVLIN

From the Department of Ophthalmology, Tulane Medical School, New Orleans, Louisiana, USA

SUMMARY The case of a 5-month-old black female child with a linear sebaceous naevus syndromeand multiple congenital anomalies is presented. Ocular malformations consisted of colobomatouschanges of the lid and retina, dermoid of the conjunctiva, chorioretinal changes, and peripapillaryatrophy of the optic nerve. Systemic findings included midline cleft of the secondary palate withinvolvement by the naevus, bilateral hearing loss, asymmetrical skull bones, ventricular septaldefect, epidermal inclusion cyst, and developmental delay without seizures.

Jadassohn' in 1895 was the first to employ the termorganoid naevus as a distinct entity from pigmentednaevi. In 1932 Robinson2 surveyed the literature andintroduced the term 'naevus sebaceus of Jadassohn'.Feuerstien and Mims3 defined a new neurocutaneoussyndrome in 1962 consisting of the triad of linearsebaceous naevus, convulsions, and mental retarda-tion. Neurocutaneous syndromes include congenitallesions of the skin and of the central nervous systemand often involve ocular and visceral malformations.Tuberous sclerosis, neurofibromatosis, Sturge-Weber disease, and von Hippel-Lindau disease allfall under the domain of neurocutaneous syndromeswhich are all ectodermal dysplasias.4More recent cases expanded the scope of symp-

toms encountered in the new neurocutaneous syn-drome. Marden and Venters' presented a case studyshowing that mesodermal malformations could beinvolved in the new neurocutaneous syndrome.Anomalies in their patient included severe failure tothrive, hydrocephalus, colobomas of the irides andchoroid, lipodermoids, slanting of the auricle,multiple naevi, coarctation of the aorta, skulldeformities, and the triad of linear sebaceous naevus,mental retardation, and seizures. Moynahan andWolff h further expanded the possible symptomsassociated with the linear sebaceous naevus. Theydescribed a patient who had a linear sebaceousnaevus, generalised EEG irregularities, skull asym-metry, conjunctival lipodermoids, and corticalatrophy of the right hemisphere as indicated bytransillumination over the right frontal region of theskull.Correspondence to Michacl S Inslcr. MD, Departmcnt of Ophthal-mology, 1430 Tulane Avcnuc, New Oricans, LA 70112, USA.

The following case provides an interesting constel-lation of findings and helps to illustrate both commonfeatures and variations encountered in the linearsebaceous naevus syndrome.

Case report

A 5½/2-month-old female child was referred becauseof failure to thrive and multiple congenital anoma-lies. She weighed 7 pounds 12 ounces (3515 g) atbirth after a normal spontaneous vaginal deliverywithout complications.

Immediately on examination a midline, vertical,hyperpigmented, papular lesion extending from theanterior fontanelle to the upper lip was noted. Similarlesions were present over the cheeks, left ear, chest,left arm, and neck extending down the back (Fig. 1).Irregular areas of hyperpigmentation were noted onthe lower limbs. The patient was also noted to have amidline palatal cleft of the secondary palate, and asoft tissue mass encroaching on the temporal limbusin the left eye. There was no family history of anyneurological or dermatological disease.

PHYSICAL EXAMINATIONOn admission the child was a cachectic, weak infant.Anthropomorphic measurements were: headcircumference 39-5 cm (<5% percentile), length55 cm (<5% percentile), and weight 3-72 kg (<5%percentile). There was slight asymmetry of the skullon the right side. On auscultation of the chest aregular rate and rhythm with a II/VI systolic ejectionmurmur heard best at the left lower sternal borderwas noted. A 2x2 cm midline mass was located 1 cmbelow the umbilicus. Neurological examination

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_... 'IL. w ..:.i*Fig. 1 Hyperpigmented skin lesion present onface andlowerjaw ofS½12-month-oldfemale child.

revealed decreased tone throughout, without focalneurological findings.

OCULAR EXAMINATION

Visual acuity appeared to be normal in both eyes,though the child showed a preference for the righteye. The pupils were equal, round, and reactive tolight. The extraocular movements were withinnormal limits in both eyes. External examinationrevealed a circumferential yellow, lipoid-like sub-conjunctival deposit encroaching on the temporallimbus of the left eye. In addition a coloboma of theright upper lid was evident (Fig. 2). Funduscopicexamination of the left eye showed a choroidal anddisc coloboma with chorioretinal changes. Examina-tion of the right fundus revealed peripapillaryatrophy of the disc also with chorioretinal changes.

LABORATORY DATAThe haemoglobin was 12*1 g/dl and the packed cellvolume was 36-9%, with a white blood cell count of11-7x 109/l. A random blood glucose test gave 65 g/dl(3.6 mmol/l); the blood urea nitrogen value was 9 g/dl(1.5 mmol/l). It was also determined that the patienthad a normal female karyotype.

Fig. 2 Midline naevus sebaceus with ocular involvement ofthe lid and bulbar conjunctiva.

Skull x-ray showed minimal asymmetry of the skullon the right side, with a suggestion of some asym-metry of the sphenoid bone on the left side. A bonescan of the skull was performed to help rule outcraniosynostosis. It proved negative. An electro-encephalogram showed evidence of voltage asym-metry, with the presence of suspicious slowing overthe left hemisphere that was non-specific in nature.A chest x-ray showed a slight boot shaped heart

with an uptilted apex suggestive of right ventricularhypertrophy. The electrocardiogram showed someright ventricular hypertrophy. M-mode and TT echo-cardiograms revealed a small ventricular septaldefect with slight poststenotic aortic dilatation. Afilling defect in the pharynx, which was later found tobe a redundant uvula, a partial malrotation of thejejunum, and a small sliding oesophageal hernia werevisualised during a gastrointestinal x-ray examina-tion.Tympanometry was performed and showed type B

changes bilaterally. A brain stem evoked responseshowed conductive hearing loss bilaterally with poss-ible mixed changes, particularly on the right side.

SURGICAL PROCEDURESThe patient underwent conjunctival biopsy, biopsy of.the abdominal lesion near the umbilicus, placement

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Fig. 3 Naevus sebaceus ofJadassohn showinghyperkeratosis, acanthosis, and hypertrophied sebaceousgland in the superficial corium. H and E.

of pressure equalising tubes, and intervelar velo-plasty with palatoplasty utilising redundant uvula. Atthe time of surgery it was noted that the naevusappeared to involve the upper lip, the entire softpalate, and the right buccal mucosa. The bifid uvulawas thickened and enlarged as well as elongated.Histological examination of the conjunctival biopsyrevealed a dermoid. The biopsy of the uvula provedto be a squamous papilloma, and examination of theabdominal biopsy showed an epidermal cyst. Duringthis same admission to hospital a histopathologicalanalysis was also made of the skin lesion, whichshowed sebaceous gland hyperplasia consistent witha sebaceous naevus (Fig. 3).One and one-half years after discharge from

hospital the child has not had a seizure, but she stillappears to be developmentally delayed according tothe primary care physician.

Discussion

Mehregan and Pinkus7 reviewed 150 cases oforganoid naevus which consisted mostly of the typedesignated naevus sebaceus of Jadassohn. Theiranalysis provides a description of the life history anda discussion of the malignant quality of the lesion.The first phase of the life history involves under-

Table I Associatedfindings in linear sebaceous naevussyndrome

External diseaseLipodermoid of upper lid'Unilateral ptosis'Coloboma of upper lid*Anteriorsegment diseaseLipodermoids (unilateral and bilateral) of conjunctiva' 12*Vascularisation of cornea"Coloboma of iris"Corneoseleral mass (lacrimal and cartilage choristoma)"'Intraseleral cartilage and bone."'Cataract"'Posteriorsegment diseaseRetinal degeneration with chorioretinal coloboma5Retinal detachment with rosette formation"'Peripapillary atrophy"'*Coloboma of optic discOthersNystagmus"External oculomotor nerve palsy with pupillary sparring"Cortical blindness9Esotropial"

*Our case.

development of hairs and sebaceous glands. Thesecond phase, occurring at the time of puberty, ischaracterised by massive development of sebaceousglands, papillomatous epidermal hyperplasia, andmaturation of apocrine glands. The final stage isheralded by the development of benign and malig-nant naevoid tumours. Fifty-two tumours developedwithin the organoid nevi in 33 patients. The distribu-tion was as follows: basal-cell epithelioma (21),syringadenoma papilliferum (8), solid hidradenoma(6), infundibuloma (5), sebaceous epithelioma (4),apocrine cystadenoma (4), and keratoacanthoma(4).

Solomon" appears to have coined the name'epidermal naevus syndrome' in reporting 44patients, many with the findings of naevus sebaceusof Jadassohn: 71% of his patients had skeletalanomalies, 46% had central nervous system (CNS)abnormalities, and 38% had both.Many ocular findings have been described in

association with linear sebaceous naevus syndrome(Table 1). They include colobomas of the lid, epibul-bar lipodermoids, bulbar dermoids with pannusformation, iris and chorioretinal colobomas, general-ised retinal degeneration, antimongoloid lid fissures,asymmetry of orbital bones, peripapillary ectasia ofthe sclera, and esotropia." In 1972, Haslam andassociates" presented a case of unilateral externaloculomotor nerve palsy with pupillary sparing.Lansky et al. "' in that same year published a case oflinear sebaceous naevus syndrome in association withcortical blindness. Bilateral Coats' disease wasidentified in a 4-year-old girl with ichthyosis hystrix,

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a variant of the epidermal naevus syndrome. Burch etal. " suggested a possible relation between thisfinding and other vascular abnormalities and mal-functions seen in this syndrome. In 1981 Wilkes etal. 2 reported a case of a 13-year-old boy who had anipsilateral facial sebaceous naevus in association witha left corneoscleral limbal mass composed of lacrimaltissue and cartilage, together with intrascleral carti-lage and bone. Retinal detachment and rosetteformation were present on the left, while the findingsin the right eye were a myopic crescent, peripapillaryatrophy, and a colobomatous defect of the optic disc.Our patient appeared to have normal visual acuity

with a left temporal conjunctival dermoid, colobomaof the retina and disc, and chorioretinal changes. Theright eye had a coloboma of the upper lid, peripapil-lary atrophy of the disc, and chorioretinal changes.No race, sex, ethnic, familial, or predisposing

factors are known to be associated with the syn-drome. "I As in this case the appearance of thesyndrome is a sporadic event with no clear inherit-ance pattern. An exception is a case reported byBianchine'3 of a patient with the new neurocutaneoussyndrome who had a familial history of convulsionsand mental deficiency.

Patients often have asymmetry of the sphenoidbones.' Additional cranial anomalies include widen-ing of the sella, hydrocephalus, hemimacrocephaly,and unilateral ventricular widening.'4 Lansky and co-workers"' discussed the association of cutaneousmanifestations ipsilateral to the abnormal encephalo-graphic focus. This patient's electroencephalogramrevealed voltage asymmetry with diffuse slowingover the left hemisphere of a suspicious nature. Themost common EEG finding involves focal and multi-focal spiking, with other EEG tracings described.'9Herbst and Cohen'6 first reported an association of atypical hypsarrythmic pattern with the linearsebaceous naevus. This type of pattern generallyindicates a diffuse brain lesion according to theauthors.The new neurocutaneous syndrome involves the

triad of linear sebaceous naevus, mental retardation,and seizures. The typical cutaneous lesions (circum-scribed, firm, flat, yellow plaques with smooth,furrowed surfaces) and mental retardation (develop-mental delay), but not seizure activity, characterisedour patient. This case represents a forme fruste ofthe syndrome. Other variants of the new neurocu-taneous syndrome have been described. Lantis andassociates'7 discussed two cases of linear sebaceousnaevus which did not have the triad. Their patientshad ocular dermoids, linear sebaceous naevus,coloboma of the eyelid, and abnormal skull x-rays;however, neither patient was mentally retarded orhad experienced seizure activity.

The clinical outcome in linear sebaceous naevussyndrome is usually not fulminant. However, Mollicaet al. ' presented a case of a newborn baby withneurological symptoms and extensive malforma-tions, including angiomas of the scalp, lipodermoidsof the conjunctiva, adenoma of the liver, horseshoekidney, patent ductus arteriosus, and diffuse epider-mal naevus. The baby died 36 hours post partum. Atnecropsy a large leptomeningeal haemagioma wasfound in the middle fossa, with associated intraven-tricular and ependymal haemorrhage. The authorssuggested that the neurological symptoms of thelinear sebaceous naevus syndrome may be the resultof hamartomatous lesions of the CNS.Armed with the knowledge of the life history and

the associated anomalies the physician is betterequipped to diagnose and treat the linear sebaceousnaevus syndrome. Our case demonstrated severalcharacteristic features and the newly recognisedassociation of a midline cleft of the secondary palatewith extensive naevus involvement of the buccalmucosa and a bifid uvula.

References

1 Jadassohn J. Bemerkungen zur Histologie der systematisirtenNaevi und uber 'Talgdrusen-Naevi'. Arch DermatolSyph (Berlin)1895; 33: 355-9.

2 Robinson SS. Naevus sebaceus (Jadassohn). Report of fourcases. Arch Dermatol 1932; 26: 663-7.

3 Feuerstein RC, Mims LC. Linear nevus sebaceus with convul-sions and mental retardation. Am J Dis Child 1962; 140: 675-9.

4 Nelson BE, Behrman RE, Vaughan VC. Textbook ofpediatrics.13th ed. Philadelphia: Saunders, 1983: 1574-6.

5 Marden PM, Venters HD. A new neurocutaneous syndrome.Am J Dis Child 1966; 112: 79-81.

6 Moynahan EJ, Wolff OH. A new neurocutaneous syndrome(skin, eye and brain) consisting of linear naevus, bilateral lipo-dermoid of the conjunctivae, cranial thickening, cerebral corticalatrophy and mental retardation. BrJ Dermatol 1967; 79: 651-2.

7 Mehregan AH, Pinkus H. Life history of organoid nevi. Specialreference to nevus sebaceus of Jadassohn. Arch Dermatol 1965;91: 574-88.

8 Solomon LM. Epidermal nevus syndrome. Mod Probl Paediatr1975; 17: 27-30.

9 Haslam RHA, Wirtschafter JD. Unilateral external oculomotorpalsy and nevus sebaceus of Jadassohn. Arch Ophthalmol 1972;87: 293-300.

10 Lansky LL, Funderburk S, Cuppage FE, Schmike RN, DiehlAM. Linear sebaceous nevus syndrome. A hamartoma variant.Am J Dis Child 1972; 123: 587-90.

11 Burch JV, Leveille AS, Morse PH. Ichthyosis hystrix (epidermalnevus syndrome) and Coats' disease. AmJ Ophthalmol 1908; 89:25-30.

12 Wilkes SR, Campbell JR, Waller RR. Ocular malformation inassociation with ipsilateral facial nevus of Jadassohn. Am JOphthalmol 1981; 92: 344-52.

13 Bianchine JW. The nevus sebaceus of Jadassohn. A neuro-cutaneous syndrome and a potentially premalignant lesion. Am JDis Child 1970; 120: 223-8.

14 Barth PG, Valk J, Kalsbeek GL, Blom A. Organoid nevussyndrome (linear nevus sebaceus of Jadassohn): clinical andradiological study of a case. Neuropediatrics 1977; 8: 418-28.

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15 Mollica F, Pavone L, Nuciforo G. Linear sebaceous nevus

syndrome in a newborn. Am J Dis Child 1974; 128: 868-71.16 Herbst BA, Cohen ME. Linear nevus sebaceus. A neuro-

cutaneous syndrome associated with infantile spasms. ArchNeurol 1971; 24: 317-22.

17 Lantis S, Leyden J, Thew M, Heaton C. Nevus sebaceus ofJadassohn. Part of a new neurocutaneous syndrome? ArchDermatol 1968; 98: 117-23.

Acceptedfor publication 30 May 1986.

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