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Year : 2021  |  Volume : 22  |  Issue : 3  |  Page : 280-281

Epidermal nevus syndrome with rare ocular and skeletal features

1 Department of Dermatology, G G S Medical College, Faridkot, Punjab, India
2 Fortis Polyclinic, Mohali, Chandigarh, India

Date of Submission26-May-2020
Date of Decision29-Jun-2020
Date of Acceptance30-Mar-2021
Date of Web Publication30-Jun-2021

Correspondence Address:
Neerja Puri
Department of Dermatology, G G S Medical College, Faridkot, Punjab
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_93_20

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How to cite this article:
Puri N, Brar S, Singh JP. Epidermal nevus syndrome with rare ocular and skeletal features. Indian J Paediatr Dermatol 2021;22:280-1

How to cite this URL:
Puri N, Brar S, Singh JP. Epidermal nevus syndrome with rare ocular and skeletal features. Indian J Paediatr Dermatol [serial online] 2021 [cited 2021 Oct 22];22:280-1. Available from: https://www.ijpd.in/text.asp?2021/22/3/280/319956


Epidermal nevus syndrome (ENS) is a rare entity. It is a congenital syndrome with skin, neurological, cardiac and eye abnormalities. ENS is also called Solomon's syndrome.[1] There is presence of epidermal nevi in association with various developmental anomalies of the skin, eye, nervous, skeletal, cardiovascular, and urogenital systems.[2] Complex ocular choristomas (epibulbar tumors), characterized by the presence of two or more ectopic tissues, have been described in this syndrome.[3]

Neurological abnormalities that can be associated with ENSs can include seizures, cognitive impairment, developmental delays, and hemiplegia.[4] Skeletal abnormalities can include abnormal curvature of the spine, malformation of the hip, and abnormalities of the arms and legs.[5] Ocular abnormalities may include cataracts, clouding (opacity) of the cornea, or partial absence of tissue of the iris or retina (colobomas).

We report the case of a 14-year-old female with presence of hyperpigmented plaques present on the right side of the neck since birth. There was no positive family history, and a history of consanguinity was denied. There was no evidence of mental retardation in the patient. There was a history of progressive diminution of vision. Regarding the bony abnormalities, there was shortening of the left leg since birth. On examination, multiple hyperpigmented verrucous lesions were present on the lateral aspect of the neck [Figure 1] and right upper back along the  Lines of Blaschko More Details and not associated with any itching over the lesions. Right-sided facial hemiatrophy [Figure 2] along with twitching of the facial muscles occurring at regular intervals was present since birth. Examination of the eyes revealed diminution of vision, and bilateral choristomas were present on slit-lamp examination. Dermoscopy of the verrucous lesions showed thick brown branching lines with terminal hairs along with brown dots. Punch biopsy of the verrucous lesions was done, and it showed hyperkeratosis, papillomatosis, and irregular acanthosis consistent with verrucous epidermal nevus [Figure 3]. Computed tomography scan of the head showed both basal ganglia and thalamus normal, there was no midline shift seen, and both brain stem and cerebellum appeared normal. X-rays of the pelvis showed that resorption of the head of the femur with breaking in the neck region was seen [Figure 4]. Ill-defined sclerosis was visualized in the shaft of the femur with superior displacement. The acetabulum appeared shallow and showed ill-defined sclerosis. Furthermore, the hemipelvis appeared smaller than the opposite hemipelvis. A provisional diagnosis of developmental dysplasia of the hip with pseudoarthrosis was made. Based on these, a diagnosis of ENS was made. For the bony abnormalities, she was referred to the department of orthopedics for further management.
Figure 1: Epidermal nevi over the neck of a 14-year-old female

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Figure 2: Facial hemiatrophy in a 14-year-old female

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Figure 3: Hyperkeratosis, papillomatosis, and irregular acanthosis on histopathology

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Figure 4: X-rays pelvis showing resorption of the head of the femur with superior displacement and acetabular sclerosis

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The treatment of ENS requires a holistic approach involving a team of specialists including pediatricians, dermatologists, orthopedic surgeons, and ophthalmologists.

The treating physician should counsel the parents of these children regarding the various therapeutic modalities best suited to their needs. Very few cases of bilateral ocular choristoma have been reported in association with ENS.[6] This association with other features is rare and hence reported.

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.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Solomon LM. Epidermal nevus syndrome. Mod Probl Paediatr 1975;17:27-30.  Back to cited text no. 1
Lazzeri S, Mascalchi M, Cellerini M, Martinetti MG, Dal Pozzo G. Epidermal nevus syndrome: MR of intracranial involvement. AJNR Am J Neuroradiol 1993;14:1255-7.  Back to cited text no. 2
Mansour AM, Laibson PD, Reinecke RD, Henkind P, Mikati M. Bilateral total corneal and conjunctival choristomas associated with epidermal nevus. Arch Ophthalmol 1986;104:245-8.  Back to cited text no. 3
García-Vargas A, Hafner C, Pérez-Rodríguez AG, Rodríguez-Rojas LX, González-Esqueda P, Stoehr R, et al. An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. Am J Med Genet A 2008;146A:2275-9.  Back to cited text no. 4
Heike CL, Cunningham ML, Steiner RD, Wenkert D, Hornung RL, Gruss JS, et al. Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis? Am J Med Genet A 2005;139A:67-77.  Back to cited text no. 5
Sharma R, Singal A, Verma P, Rohatgi J, Sharma S. Epidermal nevus syndrome associated with unusual neurological, ocular, and skeletal features. Indian J Dermatol Venereol Leprol 2012;78:480-3.  Back to cited text no. 6
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  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


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