From the State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Sponsored by the natural science foundation of Guangdong Province, China (036651).
The authors have no financial or proprietary interest in the materials presented herein.
Address correspondence to Jianhua Yan, MD, PhD, Zhongshan Ophthalmic Center, Xian Lie Nan South Road 54#, Guangzhou, Guangdong Province, China, 510060.
Linear nevus sebaceous syndrome is a rare congenital disorder that involves structures of ectodermal and mesodermal origin, typically characterized by the triad of nevus sebaceous of Jadassohn, seizures, and mental retardation.1–4 Ocular abnormalities have been described in up to 50% of patients with this condition. These abnormalities include microphthalmia, choristomas, and coloboma of the eyelids, iris, choroid, and optic nerve head.4–7 The current patient had the clinical features typical of this syndrome, accompanied by an unusually large choristoma of lacrimal tissue that gave rise to remarkable ectropion of the left upper eyelid and infrequent dentigerous cysts within both maxillary sinuses. As far as the authors know, this is the first patient with linear nevus sebaceous syndrome to present with these associated abnormalities.
A 3-year-old girl was found to have an abnormal “red left eye” and irregular dark skin plaques of the left side of the face and neck since birth. There was no significant history of complications of pregnancy or delivery, nor was there any family history of similar lesions. However, 6 months before pregnancy, the patient’s mother tried to commit suicide and took drugs of “poison for mouse.” The patient’s father was a drug addict 3 years before the pregnancy. At birth, the patient had extensive linear, well-demarcated, yellowish, hairless plaques on the top of the scalp and on the left side of the face and neck. Also, a red, elliptical soft tumor was found on the left upper eyelid, with remarkable secondary ectropion. Some difficulty with sucking was noticed. The patient had frequent epileptic attacks and mental retardation and was not receiving any drug treatment.
On examination, the patient was a severely retarded, very floppy, easily agitated child, who showed extensive linear, well-demarcated, gray-yellow, hairless sebaceous nevi on the scalp, the left side of the face and neck, and the buttocks (Fig. 1A). The affected areas on the scalp were bald (Fig. 1B). The lesions on the buttocks were dark gray, without obvious dermal change (Fig. 1C). No microcephaly or plagiocephaly was noted, and the head circumference measurement at 3 years of age was 48 cm. The patient had no kyphoscoliosis and no evidence of rickets at the wrists and knees.
Figure 1. (A) Extensive Linear, Well-Demarcated, Gray-Yellow, Hairless Plaques of Sebaceous Nevi Affecting the Left Side of the Forehead, Face, and Neck. (B) The Affected Areas on the Scalp Are Bald. (C) the Lesions on the Buttocks Are Dark Gray, Without Obvious Dermal Change.
Examination of the left eye showed a remarkable, red, elliptical, and poorly defined soft tumor measuring 20 × 40 mm on the upper eyelid and bulbar conjunctiva, with secondary ectropion (Fig. 2B). The entire conjunctiva was dry and keratotic. No tearing was found in the inferior conjunctival sac. The cornea was small, with a diameter of 9 mm, and corneal opacity was so great that the intraocular structures of the left eye could not be seen (Fig. 2A). A small corneal dermoid measuring 1 × 2 mm was noted on the right temporal peripheral cornea. No other abnormality was found in the right eye.
Figure 2. (A) A Remarkable, Red, Elliptical Soft Tumor (20 × 40 mm) Is Seen on the Left Upper Eyelid Ectropion. The Entire Left Upper Eyelid and Conjunctiva Were Keratotic and Inseparable. (B) the Left Eyeball Is Seen Embedded Under Thickened Conjunctiva After the Ectropic Eyelid and Red Tumor Were Drawn to One Side.
Computed tomography scan showed flecks of dense structures on the upper and inner walls of both eyes. The optic nerve in the left eye was thinner and shorter than that in the right eye (Fig. 3A). The volume of the left cerebral hemisphere was reduced. The left gyrus, subarachnoid cavity, and ventricle were obviously expanded and enlarged (Fig. 3B). Two symmetric high-density shadows were noted in both maxillary sinuses (Fig. 3C) and were confirmed as dentigerous cysts in the third molar on both sides. B-wave ultrasonography examination showed diffuse light spots in the vitreous cavity of the left eye. A strong resonance of 15.30 mm was found in the superior and posterior walls of the left eyeball. A high-resonance region of 25.20 × 8.94 mm, with a clear boundary, was found in the upper eyelid of the left eye, without obvious blood signal on color Doppler energy (Fig. 3D). Results of laboratory tests, including complete blood count, blood chemistry, chest x-ray, electrocardiogram, and urinalysis, were within normal limits.
Figure 3. (A) Shadow of Abnormal Soft Tissue with Asymmetric Density Located Anterior and Inferior to the Left Eyeball. (B) the Volume of the Left Hemisphere Is Reduced, and the Left Gyrus, Subarachnoid Cavity, and Ventricle Are Obviously Expanded and Enlarged. (C) Two High-Density Shadows Are Seen in Both Maxillary Sinuses. (D) A Strong Resonance of 15.30 mm Is Seen in the Superior and Posterior Walls of the Left Eyeball, Behind Which Echo Decreased Greatly.
A conjunctival incision was made 15 mm away from the margin of the upper eyelid to remove nearly the entire mass that was present just under the conjunctival epithelium. The mass contained a great deal of typical white and soft lacrimal gland tissue and other conjunctival and limbal choristomas. Ectropion of the upper eyelid was corrected by eyelid shortening and tightening procedures (Fig. 4). A pressure dressing was applied for 48 hours. The dentigerous cysts in the maxillary sinuses were examined by a stomatologist, who found no odor, no purulence, and no fistula around the third molars. No infection or inflammation was detected in the dentigerous cysts, and no treatment other than periodic follow-up was advised. The treatment advised for the sebaceous nevi on the face and neck was skin transplantation after consultation with a dermatologist. Epilepsy was monitored by a neurologist, and vitamin B6 and vitamin B1 were administered daily.
Figure 4. After Surgery, the Tumor on the Left Upper Eyelid Was Resected and the Ectropion of the Upper Eyelid Was Corrected with Three Sutures and Rubber Particles Cut from a Rubber Band.
Pathologic examination found that the resected tissue consisted of conjunctival epithelium that was hyperplasic and keratotic, some fibrous tissue, and lacrimal gland tissue. No tarsi tissue was found. Results of immunochemical tests were positive for S100, HMB45 epithelium basal melanin cells, cytokeratin squamous epithelium, and gland epithelium. These pathologic results confirmed the diagnosis of typically large ectopic lacrimal gland, eyelid, and conjunctival choristomas (Fig. 5).
Figure 5. (A) Immunochemistry Showed Positive Results for S100, Hmb45 Epithelium Basal Melanin Cells, Cytokeratin Squamous Epithelium, and Gland Epithelium. (B) the Tissue Consisted of Epithelium of Conjunctiva, Which Was Hyperplasic and Keratotic, Some Fibrous Tissue, and Lacrimal Gland Tissue, but No Tarsi Tissue (Hematoxylin–Eosin, Original Magnification ×10).
First described in 1962 by Feuerstein and Mims,3 linear nevus sebaceous syndrome is a rare congenital neurophakomatosis that appears to occur sporadically. The classic triad includes facial skin lesions, seizures, and mental retardation. The incidence is approximately 1 per 10,000 live births.7 The skin lesions are characterized by a large linear organoid nevus of the facial region, with a yellow to tan velvety appearance or a darker verrucous look. Seizures and mental retardation have been reported in 67% and 61% of cases, respectively.8
Ophthalmologic abnormalities (59%) are also common clinical findings, and may include limbal/conjunctival choristomas, microphthalmia, macrophthalmia, eyelid coloboma, eyelid angiolipoma, ptosis, corneal vascularization, iris coloboma, cataract, Coat’s disease, chorioretinal coloboma, staphyloma, choroidal osteoma, optic disc coloboma, optic nerve glioma, nystagmus, strabismus, pseudopapilledema, cortical visual impairment, unilateral third cranial nerve palsy, and hypertelorism.8 The current patient showed all of the typical features of linear nevus sebaceous syndrome. However, she also had the unusual feature of large lacrimal ectopia and dentigerous cysts in both maxillary sinuses. The manifestation of large, complete lacrimal ectopia just under the bulbar conjunctiva, causing severe secondary ectropion of the upper eyelid, has not been reported before. In the current patient, the finding of dentigerous cysts in both maxillary sinuses is one of the unusual associated abnormalities that is of dental hypogenesis and may be the result of abnormal development of the superficial ectoderm.
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