Epidermal Nevus Syndrome: Subgroup With Neuronal Migration Defects

Abstract

Epidermal nevus syndrome is one of the sporadic congenital hamartoses in which neurologic abnormalities have been frequently reported. We report two cases with severe primary brain involvement, seizures, mental retardation, and facial hemihypertrophy. We emphasize the superiority of magnetic resonance imaging over other radiographic studies in outlining the primary central nervous system anomalies associated with this syndrome. Although attempts were made to distinguish between several variants of epidermal nevus syndrome, it is clear that these are one entity. Proteus syndrome, encephalocraniocutaneous lipomatosis, and epidermal nevus syndrome have several overlapping phenotypic features. We suggest that they represent a phenotypic continuum, which in turn suggests a common pathogenetic process. While the cause of these syndromes is unknown, observations point to a somatic mutation leading to variable patterns of mosaicism.

Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis?

“…Whether ENS represents a single syndrome, or a variety of distinct entities, continues to be debated [Solomon and Esterly, 1975;El-Shanti et al, 1992;Schwartz, 2002]. In fact, ENS has also been referred to as linear sebaceous nevus syndrome, Feuerstein-Mims syndrome, Schimmelpenning-FeuersteinMims syndrome, Schimmelpenning syndrome, nevus sebaceous of Jadassohn, Jadassohn's naevus phakomatosis, and Solomon syndrome [Zaremba, 1978;Gorlin, 1990Gorlin, , 2001OMIM 163200].…”

Sebaceous lesions and their associated syndromes: Part II

“…4 Van de Warrenburg et al 15 included brain dysgenesis, cortical dysplasia, glial hamartomas, low-grade gliomas, hemimegalencephaly (usually ipsilateral to the nevus), and enlargement of the lateral ventricles. 15,43,45 Epilepsy was present in up to 67% of patients. 15 In their review of 12 LNSS patients, Lovejoy and Boyle 24 found that seizures usually began within the first year of life.…”

Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature

“…He was developmentally delayed. ElShanti et al [5] reported two cases of ENS with severe primary cerebral development, seizures, mental retardation and facial hemihypertrophy. In case 1, MRI of the brain showed hemimegalencephaly, pachygyria and distension of left lateral ventricle; case 2 had left hemimegalencephaly and ipsilateral dilatation of the lateral ventricle and agyria.…”