Ophthalmic Manifestation and Pathological Features in a Cohort of Patients With Linear Nevus Sebaceous Syndrome and Encephalocraniocutaneous Lipomatosis

Abstract

Purpose: This study aimed to figure out the association between ophthalmic and pathological features in patients with Linear Nevus Sebaceous Syndrome (LNSS) and in patients with Oculoectodermal Syndrome-Encephalocraniocutaneous Lipomatosis (OES-ECCL). Methods: It is a retrospective, non-consecutive, observational case series. Twenty-seven patients (12 with LNSS and 15 with OES-ECCL, 41 eyes) referred to the Department of Ophthalmology of the Shanghai Ninth People's Hospital between 2000 and 2020 were included. The mean age of the study population for the first-time consult was 5.7 years, ranging from 3 months to 34 years. Clinical notes, pathological records, and imaging findings were reviewed in all the patients. Results: Fourteen (51.9%) cases showed bilateral ocular involvement. Epibulbar choristomas were seen in all the patients. All the lesions involved the conjunctiva and cornea simultaneously. Multiple lesions were observed in 12 eyes. Of the 14 excised lesions, 11 were found to be complex choristomas. Further, 24 (89%) patients had eyelid coloboma. Also, 13 patients (48%) were diagnosed with strabismus, and 12 patients (44%) had abnormal fundus imaging, including optic nerve hypoplasia. Conclusions: LNSS and OES-ECCL shared common ophthalmic features, including epibulbar choristomas with distinctive characteristics, eyelid coloboma, strabismus, and optic nerve hypoplasia. The complex choristoma was found to be associated with the diseases. These specific patterns can be diagnostic clues to distinguish them from other syndromes, such as craniofacial defects, and to remind ophthalmologists that such patients require additional dermatological and neurological examinations and referral. Moreover, a thorough evaluation of ocular conditions is imperative for early interventions.

Keywords: encephalocraniocutaneous lipomatosis; linear nevus sebaceous syndrome; oculoectodermal syndrome; ophthalmic symptoms; pathological features.

Figure 1

Dermatological manifestations of patients with LNSS an OES-ECCL. Sebaceous nevus in a patient with LNSS (patient 4) (A). Nevus psiloliparus (ECCL, patient 25) (B) and congenital alopecia (OES, patient 13) (C).

Figure 2

Ocular manifestations of patients with LNSS an OES-ECCL. Single flat epibulbar choristoma involving the cornea with unclear boundaries and upper eyelid coloboma with skin tag (LNSS, patient 9) (A). Mutiple epibulbar choristomas involving the cornea, and esotropia (LNSS, patient 1) (B). Large, raised epibulbar choristoma, and upper eyelid coloboma (ECCL, patient 25) (C). The oval optic disc, inferior temporal optic disc coloboma, and the vessels crawl out the edge of the disc, which is similar to the pattern of morning glory disc. The patient with corneal choristoma was examined under anesthesia (LNSS, patient 3) (D). The boundary of the optic disk is not clear with a lighter color, and the exposed scleral ring can be seen around the disk (ECCL, patient 25) (E). Congenital coloboma of the optic disk (OES, patient 14) (F).

Figure 3

The prevalence of main ocular manifestations in patients with LNSS and OES-ECCL.

Figure 4

Histopathological studies of complex choristoma cases. The complex choristoma was composed of cartilaginous tissue (patient 7) (A). Immature hair follicle tissues combined with sebaceous glands were found in the biopsy of conjunctival lesions (patient 24) (B). The complex choristoma contained lacrimal gland tissue (patient 9) (C). The large complex choristoma contained both fibrous connective tissue and smooth muscle (patient 11) (D) (hematoxylin-eosin-stained, ×20 original magnification).