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Case Reports and Small Case Series
October 1998

Nevus Sebaceus of Jadassohn Associated With Macro Optic Discs and Conjunctival Choristoma

Arch Ophthalmol. 1998;116(10):1379-1381. doi:

Following Jadassohn's1 report in 1895, congenital ocular findings such as epibulbar choristomas (lipodermoids, aberrant lacrimal glands, cartilage), corneal pannus, colobomas (eyelid, iris, retina or choroid, optic nerve), and optic nerve hypoplasia2 but not macro optic discs have been described in combination with a facial nevus sebaceus.

Report of a Case

A 42-year-old man was first seen with a dark lesion on the left side of the forehead (4×4 cm, Figure 1, A). Best-corrected visual acuity was 0.7 OD and 0.4 OS with a refractive error of−0.5 diopter OU. The right eye showed a superior corneal pannus and an elevated yellowish subconjunctival mass parallel to the superior limbus. The left eye showed an incomplete coloboma of the upper eyelid and an elevated mass adjacent to the nasal limbus. A scleral staphyloma was located at the 5-o'clock position and a corneal pannus in the inferotemporal quadrant (Figure 1, B). In addition, there was a large yellowish mass extending from the lacrimal gland (Figure 1, C). Both optic discs were very large, with the size of the right exceeding that of the left disc. The margin of the right disc was clearly defined except for the inferotemporal quadrant that showed a rather indistinct margin (Figure 2, A). The margin of the left disc was less clearly defined and showed an irregular indistinct contour in both the nasal and the temporal inferior quadrant (Figure 2, B). The branching pattern of the vessels of the right disc was nearly normal except for a slight nasal dislocation. However, the branching pattern of the left eye appeared to be abnormal (Figure 2, B). Both discs appeared relatively pale with a cup-disc ratio of about 0.9 and a vital, irregular neuroretinal rim (Figure 2, A and B). Measurement with laser scanning tomography showed areas of 6.4 and 12 mm2 (right and left, respectively) while the cup volume was 3.5 and 10.8 mm3 (right and left, respectively) (normal, 2.17±0.55 mm2 and 0.37±0.31 mm3, respectively)3 (Figure 2, C). Results of function tests (eg, visual fields, electroretinography) were normal. Histologic findings from the epibulbar mass of the left eye showed ectopic lacrimal gland, fat, and cartilage (Figure 1, D). Histologic examination of the irregular, dark skin lesion on the left side of the forehead showed a nevus of Jadassohn. Findings from all of the neurological and neuroradiological examinations (computed tomography, magnetic resonance imaging) were unremarkable.

Figure 1.
A, Facies of the patient with nevus sebaceus of Jadassohn on the left side of the forehead. B, Left eye with nasally located incomplete coloboma of the upper eyelid, a small, elevated, yellowish mass adjacent to the nasal limbus, scleral staphyloma at the 5-o'clock position, and a corneal pannus in the inferior temporal quadrant. C, Superior temporal aspect of the left eye with a nasally located incomplete coloboma of the upper eyelid as well as a large choristomatous mass extending from the lacrimal gland. D, Histological image of the limbal mass demonstrates a complex choristoma with cartilage.

A, Facies of the patient with nevus sebaceus of Jadassohn on the left side of the forehead. B, Left eye with nasally located incomplete coloboma of the upper eyelid, a small, elevated, yellowish mass adjacent to the nasal limbus, scleral staphyloma at the 5-o'clock position, and a corneal pannus in the inferior temporal quadrant. C, Superior temporal aspect of the left eye with a nasally located incomplete coloboma of the upper eyelid as well as a large choristomatous mass extending from the lacrimal gland. D, Histological image of the limbal mass demonstrates a complex choristoma with cartilage.

Figure 2.
A, Fundus photograph of the macro optic disc of the right eye. B, Fundus photograph of the macro optic disc of the left eye. C, Laser scanning tomographic measurement of the same disc reveals an area of 12 mm2 (normal, 2.17 mm2).

A, Fundus photograph of the macro optic disc of the right eye. B, Fundus photograph of the macro optic disc of the left eye. C, Laser scanning tomographic measurement of the same disc reveals an area of 12 mm2 (normal, 2.17 mm2).

Comment

Jadassohn1 originally used the term "organoid nevus" to describe the combination of sebaceous gland alterations with nevi. Later the term "nevus of Jadassohn" was coined for lesions of the facial skin with sebaceous gland enlargement. Although better known in dermatology, sebaceous nevus with ophthalmological abnormalities and often neurological abnormalities (not present in our patient) has rarely been mentioned in ophthalmological literature.2,3 Such an association is distinct from the linear nevus syndrome described by Feuerstein and Mims4 as the triads of linear facial nevi, seizures, and mental retardation.

The most striking finding in our patient was macro optic discs that rarely occur in the general population. Based on the Gaussian distribution curve of the optic disc size, a macrooptic disc can be defined as a disc with an area exceeding that of the mean+2 SDs. According to our data on the normal German population, the minimal size for a macro optic disc would be 3.27 mm2, which correlates with other data (4.4 mm2 for fundus photography).5,6 Based on these data, less than 1 of 1000 emmetropic eyes would have the disc size observed in our patient. Interestingly, most of such eyes do not have the visual impairment as noted in our patient.6

Although the pathogenesis is unknown, a developmental arrest in the seventh or eighth month of gestation has been suggested in the linear nevus syndrome. This hypothesis of a disturbance of cell migration and differentiation due to toxic or infectious agents is shared by others.7 The corneal pannus in our patient could therefore be explained by a disturbance of differentiation of corneal epithelial stem cells at the limbus. Also a defect of fusion and separation of tissue during the early weeks of pregnancy has been suspected in nevus of Jadassohn associated with ocular malformations.3 This theory could help in understanding the previously reported abnormalities of the optic disc such as colobomas as well as deep cupping and abnormal blood vessels as recently described by Shields et al8 and the macrooptic discs in our patient both of which might result from the same defect of fusion and separation.

We observed stable ocular findings over 2 decades. Since the nevus sebaceus may undergo benign or malignant transformation, patients with choristomas and/or colobomas should see a dermatologist for evaluation of their skin.

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Article Information

None of the authors has any proprietary interest in the methods or materials described in this report

Corresponding author: Friedrich E. Kruse, MD, Department of Ophthalmology, University of Heidelberg, Im Neuenheimer Feld 400, D-69120 Heidelberg, Germany (e-mail: Friedrich_Kruse@ukl.uni-heidelberg.de).

References
1.
Jadassohn  J Bemerkungen zur Histologie der systematisierten Naevi und über "Talgdrüsen-Naevi." Arch Dermatol Syphlilis. 1895;33355- 372Article
2.
Katz  BWiley  CALee  VW Optic nerve hypoplasia and the syndrome of nevus sebaceus of Jadassohn. Ophthalmology. 1987;941570- 1576Article
3.
Wilkes  SRCampbell  RJWaller  RR Ocular malformations in association with ipsilateral facial nevus of Jadassohn. Am J Ophthalmol. 1981;92344- 352
4.
Feuerstein  RCMims  LC Linear nevus sebaceus with convulsion and mental retardation. AJDC. 1962;104675- 679
5.
Burk  ROWRohrschneider  KVölcker  HENoack  H Are large optic nerve heads susceptible to glaucomatous damage at normal intraocular pressure? a three-dimensional study by laser scanning tomography. Graefes Arch Clin Exp Ophthalmol. 1992;230552- 560Article
6.
Jonas  JBGusek  GCGuggenmoos-Holzmann  INaumann  GOH Variability of the real dimensions of normal human optic discs. Graefes Arch Clin Exp Ophthalmol. 1987;226332- 336Article
7.
Shochot  YRomano  ABarishak  YR  et al.  Eye findings in the linear sebaceous nevus syndrome: a possible clue to the pathogenesis. J Craniofac Genet Dev Biol. 1982;2289- 294
8.
Shields  JAShields  CLEagle  RC  JrArevalo  FDe Potter  P Ophthalmologic features of the organoid nevus syndrome. Trans Am Ophthalmol Soc. 1996;9465- 86
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