Cutaneous and brain malformations of epidermal nevus syndrome: A classical image.

Introduction

Epidermal nevus is a congenital hamartoma of embryonal ectodermal origin. It can be classified on the basis of its component; sebaceous, apocrine, eccrine, follicular, or keratinocytic. It is associated with malformation of other organ systems in the third of the cases.

Clinical Description

A 13-month-old girl, product of a nonconsanguineous marriage, with insignificant antenatal, birth and family history, presented with global developmental delay and right focal epilepsy for 2 months of age. On examination, the salient features were left facial hypertrophy with pigmented nevus on the left forehead and bridge of nose [Figure 1] and subnormal cognition with no ophthalmoscopic abnormality, cranial nerve deficit, tonal abnormality, asymmetry or paucity of limb movements, movement disorder or jerky eye movements.

Figure 1

Left facial hemihypertrophy with pigmented nevus over left forehead, left side of face, and bridge of nose

Concurrent presence of skin abnormality and focal seizures increased the possibility of a neurocutaneous syndrome. Magnetic resonance imaging brain revealed left hemimegalencephaly with dysplastic left parieto-occipital cortex. There was displacement of the left occipital lobe across midline referred to as “occipital sign” [Figure 2]. His epilepsy got well controlled on oxcarbazepine and clobazam. Parents have been reassured regarding future conception as it is not a genetic condition.

Figure 2

(a-c) T2-weighted axial magnetic resonance images show enlarged left cerebral hemisphere with displacement of left occipital lobe across midline referred to as “occipital sign” (arrow in a), mildly enlarged left lateral ventricle (b and c) and dysplastic left cerebral cortex (arrows in c)

Discussion

The epidermal nevus syndrome (ENS) is an uncommon neurocutaneous disorder in which epidermal nevi are found in association with congenital abnormalities of the brain, eye, and/or skeleton. It is a rare condition with about sixty cases reported so far.[1] Pavone et al. identified a variant of ENS with constellation of hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy as seen in the current case.[2]

The case highlights the fact that one should be vigilant about underlying brain and other organ malformations in the presence of epidermal nevus. The correct diagnosis helps in allaying parental anxiety as it is not an inheritable condition.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

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Conflicts of interest

There are no conflicts of interest.