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

Yan Yan,Yao Fu,Henghua Zhou,Yixiong Zhou,Siyi Zhang

doi:10.3389/fped.2021.678296

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.

Highlights

Linear Nevus Sebaceous Syndrome (LNSS) and Oculoectodermal Syndrome—Encephalocraniocutaneous Lipomatosis (OESECCL) are unique developmental mosaic RASpathies of phacomatoses, encompassing both distinctive features and a broad spectrum of manifestations [1,2,3]
A differential diagnosis cannot be made based solely on ophthalmic examinations. These diseases have common but unique ophthalmic features, such as distinct epibulbar choristomas, or combinations of choristomas with eyelid colobomas. These specific patterns can be diagnostic clues to distinguish them from other syndromes, coloboma, strabismus, and optic nerve hypoplasia
All authors have read and approved the manuscript and agree to be accountable for all aspects of the work

Summary

Introduction

Linear Nevus Sebaceous Syndrome (LNSS) and Oculoectodermal Syndrome—Encephalocraniocutaneous Lipomatosis (OESECCL) are unique developmental mosaic RASpathies of phacomatoses (neurocutaneous disorders), encompassing both distinctive features and a broad spectrum of manifestations [1,2,3]. LNSS was first reported by Schimmelpenning in 1957 [5]. In 1962 Feuerstein and Mims reported it as a triad of linear naevus sebaceous with epilepsy and developmental delay [6]. Several names have been applied since so far, such as epidermal nevus syndrome, Schimmelpenning Feufstein-Mims syndrome, Solomon syndrome and Jadassohn’s syndrome. The incidence of ocular Involvements is up to around 60%, and clinical presentations vary from each other, of which the main abnormalities are strabismus, colobomas and choristomas. Complex choristoma is the most characteristic but not the specific ocular feature of the syndrome. Other rare conditions include iris and chorioretinal colobomas, generalized retinal degeneration, antimongoloid lid fissures, asymmetry of orbital bones, circumscribed choroidal hemangioma, etc. [7, 8]

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