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Show /ounJol of CtIlIlCJlI "II'O-QI'hllwlmology 13111' #-19. 1993. Linear Nevus Sebaceous Syndrome Alan M. Roth, M.D. and John L. Keltner, M.D. 0(.1 1993 Raven Press. Ltd . :- cW York The pathologic terms hamartoma, choristoma, nevus, and phakoma often are confused. We discuss them in relation to a patient with the linear nevus sebaceous syndrome who had a large limbal mass that grew unusuaUy rapidly and was excised. Histopathologic examination showed that it was a complex choristoma composed of lacrimal gland, adipose tissue, and myxomatous tissue. The latter has not been described previously in this disorder. This neuro-oculocutaneous syndrome has been considered one of the phakomatoses. Key Words: Nevus sebaceus--Conjunctiva-Complex choristoma-Myxoma-Lacrimal gland-Adipose ti sue-- Phakomatosis. From the Department of Ophthalmology, Pathology (A.M.R.l, Neurology, and Neurological Surgery U.L.K.). University of California, Da\·js, School of Medicine. and the UCD Medical Center. Sacramento. CalifornIa. U.S.A. Thi work was supported in part by an unrestricted grant from Research to Prevent Blindness, Inc. Presented at the annual meehng of the Verhoef{ Society. April 15-16. 1988. Carmel, California and the Frank Walsh Society. May 9-13. 1988. Vancouver, British Columbia. Addre correspondence and reprint requests to Dr. Alan M. Roth. Ophthalmic Pathology Laboratory. Department of Ophthalmology, University of California. 1603 Alhambra Blvd.. Sacramento. CA 95816-7051, U.S.A. 44 The linear nevus sebaceous syndrome is a rare congenital neurocutaneous disorder first described in 1962 (1) as a triad of midline facial skin lesions, seizures, and mental retardation. Since that time, numerous neurological disorders (including cerebral and cerebellar hypoplasia and arachnoid cysts) and ocular abnormalities (including anterior, posterior, and orbital choristomata) have been described. We present a patient with the linear nevus sebaceous syndrome who had an unusually large conjunctival choristoma with features that, to our knowledge, have not been described previously. CASE REPORT The patient is a 17-year-old mentally retarded boy we first saw at the Department of Ophthalmology of the University of California, Davis in September 1986 with the diagnosis of linear nevus sebaceous syndrome. He had dysmorphic facies and a history of seizures (both grand mal and Jacksonian), mild right hemiparesis, and hydrocephalus, which had required placement and revision of a ventriculoperitoneal shunt. Computed tomography (CT) of his head showed left hemisphere atrophy and hypertrophy of cranial and mandibular bones. He also had multiple recurrent hemangiomata of the face and mandible, one of which caused massive hemorrhage requiring transfusion during surgical resection in 1979. His foster mother stated that he had a red vascular-appearing growth on his left eye, which was first seen when he was age 5, and which had slowly grown and encroached on the cornea. There had been multiple episodes of enlargement and recession, but, over the prior several months, it had steadily enlarged. Examination on September 26, 1986 showed visual acuity of 20/400 in the right eye and questionable light perception in the left. There was a 2.5-cm soft red mass at the left nasal corneosclerallimbus. Extraocular movements were restricted in both eyes, and the ocular fundus was normal on the LINEAR NEVUS SEBACEOUS SYNDROME 45 right, but couldn't be seen on the left. We ordered a CT scan of his left orbit, but this could not be performed without sedation, which the mother refused. The boy was scheduled to have the mass excised as a presumed hemangioma, but this was canceled on October 7 after the history of the previous intraoperative hemorrhage was revealed, and we elected to observe him. By November 6, the lesion had grown considerably and appeared to be very friable (Fig. 1). Because of the rapid growth, we feared that it was neoplastic and might bleed spontaneously. We decided to remove it with the CO2 laser, and did so without incident on November 19 (without need for the two units of blood on hold). A tarsorrhaphy was performed. There has been no evidence of recurrence of the lesion to date. PATHOLOGY FINDINGS Specimen was a hemispheroid of epithelialcovered soft tissue measuring 27 x 25 x 18 mm in greatest dimensions. Cut surface was flat, pink, and fleshy. Sections were cut and stained with hematoxylin and eosin, the periodic acid-Schiff reaction, mucicarmine, and Wilder's reticulum stain. Sections showed conjunctiva with marked reactive hyperplasia and widespread squamous metaplasia with acanthosis and papillomatosis of its epithelium (Fig. 2). Superficial stroma was dense with marked infiltration of lymphocytes and plasma cells, and many branching vascular chan- FIG. 1. Friable-appearing limbal mass had undergone rapid growth. Facial lesions are those of nevus sebaceus of Jadassohn. nels with prominent endothelial cells were noted. The remaining stroma was myxomatous with many large fibroblasts, prominent blood vessels, and scattered chronic inflammatory cells (Fig. 3). In some areas, chronic inflammatory celJ infiltrate surrounded the vascular channels, but in others the vessels were free of infiltration. Focal areas of unremarkable-appearing serous glands and ducts were seen (Fig. 4), and adipose tissue was present in deeper areas (Fig. 5). Special stains showed no mucosubstances and diffuse absence of a reticular skeleton. DISCUSSION A number of pathologic terms frequently confuse the nonpathologist. The term Jwmartia was derived from the greek verb Jwmartanein (to fail, err, or miss) by Albrecht (2) in 1904 to denote a "faulty mixture of ... normal [tissue] components." A hamartoma is a hamartia forming a tumorous mass. Histologically, it shows normal-appearing tissue proliferating in an area where it normally is found (e.g., a choroidal hemangioma). Chorista, and its tumorous counterpart cJlOristoma, derive from the greek noun cJlOristos (separation) and denote failure of separation of embryonal cells, thus causing proliferation of normal-appearing tissue in an area where it normally is not found (e.g., a choroidal osteoma). Note that a lesion that might be considered a hamartoma in one area of the body (e.g., a dermoid or dermal hamartoma in the subcutis) would be considered a choristoma in another part (e.g., a limbal dermoid or dermal choristoma). Another confusing term is nevus, which is used in two different connotations. Most clinicians think of a nevus as a collection of pigmented "nevus" cells, a lesion which the pathologist terms a nevocellular nevus. The term nevus by itself refers to a lesion originating from embryonal cells and usually to a hamartoma found in skin. Jadassohn (3) originated the term organoid nevus to describe a faulty mixture of skin appendages. In 1932, Robinson (4) described a condition characterized by excessively large sebaceous glands as the lIel'US -ebaceus of Jadasso/lll. Nevus sebaceus of skin, a lesion frequently encountered clinically (5), has the distinctive histologic appearance of large numbers of mature and nearly mature sebaceous glands with reactive changes of the overlying epidermis. [n addition, apocrine glands, often hyperplastic and cystic in appearance, frequently are seen deep to the masses of sebaceous gland nodules (6). A less common association was described in 1962 as the linear 1e/III N.·II'o·ophlllDlmol. Vol 13. No.1. 1993 46 A. M. ROTH AND ]. L. KELTNER FIG. 2. Conjunctival epithelium shows reactive hyperplasia and papillomatosis. Granulation tissue present in superficial stroma. (Hematoxylin and eoxin; xSD.) nevus sebaceus syndrome (1), a triad of midline facial skin lesions (nevus sebaceus of Jadassohn), seizures, and mental retardation. This has since been called by a number of alternate terms: organoid nevus phakomatosis, Jadassohn's nevus phakomatosis, Feuerstein-Mims syndrome, Schim-melpenning- Feuerstein-Mims syndrome, as well as a change in spelling of the original term sebaceus: nevus sebaceous syndrome and linear nevus sebaceous syndrome. The latter is the most common present usage. A name sometimes used, the epidermal nevus syndrome, was called an unfor- , . ... ••• 1-'_ • I • I fl,. ...: '. , - ~ .. G. 3. Myxomatous stroma contains many fibroblasts, vascular channels, and scattered chronic inflammatory cells. (Hematoxylin and eosin: xaD.) I eli" NCllro-opl.thallllol. Vol. 13. N,>. I, 1993 LINEAR NEVUS SEBACEOUS SYNDROME ., ~1 'oO .- FIG. 4. Serous glands and ducts, embedded in myxomatous stroma, are ectopic lacrimal gland. (Hematoxylin and eosin; x32.) 47 tunate alternative by Diven and colleagues (5), because it actually describes another, easily separable, syndrome. Since the original description of the linear nevus sebaceous syndrome, neurological disorders, including cerebral and cerebellar hypoplasia and arachnoid cysts, have been reported (7). Other descriptions have included abnormalities of the skull and of the viscera (8). Of particular concern are reports of malignant neoplasms arising in the skin lesions, with basal cell carcinoma found in 15-20% (5). Domingo and Helwig (9) reported aggressive- FIG. 5. Focal fat cells represent adipose component of mixed choristoma. (Hematoxylin and eosin; xao.) I Oill Nfuro-ophthalmol, Vol. 13, No. I. 1993 48 A. M. ROTH AND J. L. KELTNER appearing neoplasms in nine patients with nevus sebaceus of Jadassohn. Four were apocrine carcinomas (two of which had metastasized), three were pilar adnexal tumors, one was a squamous cell carcinoma (from which the patient had died), and one was an anaplastic complex adnexal and squamous cell carcinoma. Ocular abnormalities have been found in 50% of cases (10); Alfonso and coworkers (11) found reports in 49 of the 70 cases they reviewed. These may include conjunctival lipodermoid choristomata, osseous choristomata of the choroid with subretinal neovascularization, angiomata of the orbit, and colobomata of the lids, iris, choroid, and optic nerve head (8,11-17). Other authors have found anophthalmia, microphthalmia, macrophthalmia, hemangiomata of the conjunctiva and sclera, and corectopia (18). Many of these associated ocular findings are choristomata of variable composition. Choristomata often are classified pathologically into simple (single-tissue) and complex (multiple-tissue). Both of these types have been seen in the linear nevus sebaceous syndrome. Choristomatous lesions represented the third most common major group (22%) of a reported series of 282 epibulbar tumors in children (19); 6% of these choristomatous lesions were the complex variety. Combinations of hamartomata and/or choristomata of the central nervous system, skin, and eye have been classified under the broad term of phakomatoses. The term phakoma was first introduced by Van der Hoeve (2~21) to replace the term nevus. It derives from the greek noun phakos (lens-shaped or a birthmark). He described three neuro-oculocutaneous syndromes: angiomatosis retinae (von Hipper's syndrome), neurofibromatosis (von Recklinghausen's syndrome), and tuberous sclerosis (Bourneville's syndrome), all of which feature multiple hamartomata. Since that time, other syndromes have been added to these, and linear sebaceous nevus syndrome has been included in these (13,22). The most frequent ocular findings associated with the linear nevus sebaceous syndrome include conjunctival choristomata (11). There have been several recent reports describing these lesions. Wilkes et al. (8) described cartilage and islands of lacrimal tissue at the nasal corneosclerallimbus of their case. In addition, intraScleral cartilage and bone were seen. Lambert and colleagues (13) described focal conjunctival cartilaginous masses with interspersed small lacrimal glands. The present case showed typical findings of the linear sebaceous nevus syndrome, including in- I Gin Nl'Uro-cphthalmol. Vol. 13. No. /. /993 volvement of skin, central nervous system, and eyes. There were multiple facial hemangiomata and a huge, rapidly growing lirnbal mass, which, on pathological examination, was a complex epibulbar choristoma composed of myxomatous tissue containing ectopic lacrimal gland and adipose tissue. Overlying reactive changes included granulation tissue, chronic inflammation, and hyperplastic epithelium. The rapid growth of the lesion probably was because of these reactive changes, and the lack of recurrence may be related to the protection afforded by the tarsorrhaphy, and, perhaps, to scarring from the laser. While the complex epibulbar choristomata reported previously (8,11-17) have contained lacrimal, and adipose tissues, the unusually large size of the mass in our case and the myxomatous stroma we describe have not been reported before and are unusual features of this phakomatosis. REFERENCES 1. Feuerstein RC, Mims LC. Linear nevus sebaceus with convulsions and mental retardation. Am I Dis Child 1962;104: 675--9. 2. Albrecht-Miinchen. 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