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correspondence

Indian Pediatr 2011;48: 739-740

Epidermal Nevus Syndrome with Neuronal Migration Defect


A Chakravarty and *M Mukherejee

Departments of Neurology and *Pediatrics, Vivekananda Institute of Medical Science,
and *KPC Medical College, Calcutta, India.
Email: [email protected]

 


Epidermal nevus Syndrome (ENS) describes the association of epidermal hamartomas and extracutaneous abnormalities [1]. Epidermal nevi follow the lines of Blaschko. The majority of the extracutaneous manifestations involve the brain, eye and skeletal systems. Several subsets with characterized clinical features have been delineated including the Nevus sebaceous syndrome, Proteus syndrome, CHILD syndrome, Becker Nevus syndrome, nevus comedonicus syndrome and phakco-matosis pigmentokeratotica [1]. Epidermal nevi have been associated with benign and malignant neoplasms. A rare case of ENS with CNS abnormalities is reported.

A 4-years-old boy presented with uncontrolled seizures of tonic type and severe retardation. His vision and hearing seemed intact. There were no abnormalities in skull, spine or eyes. A facial nevus involved the right side of the mid and lower face and extended down onto the right side of the neck where it appeared much darker with thickening of the skin. However, the nevus did not cross the midline.

Brain MRI revealed right hemimegaencephaly and polymicrogyria in the right parietal region with poor grey-white differentiation and increased signal intensity in the right hemispheric white matter in T2 weighted sequences. A diagnosis of ENS, most likely of Nevus Sebaceous type was made as brain malformations are not typical in the other subtypes of ENS.

Solomon, et al. [2] proposed the term to describe the association of epidermal hamartomas and extracutaneous abnormalities; 50% of patients with ENS have neurologic involvement [3]. Ocular choriostomas and colobomas are the most common ocular findings associated with ENS [4].

ENS had been reviewed by Sugarman [1] and more recently by Brandling-Bennet and Morel [5]. Diagnosis is essentially clinical and histological differentiation between the different subgroups of ENS are not always possible. We did not perform biopsy as consent of parents was not obtained.

References

1. Sugarman JL. Epidermal nevus syndromes. Semin Cutan Med Surg. 2007;26:221-30.

2. Solomon LM, Fretzin DF, Dewald RL. The epidermal nevus syndrome. Arch Dermatol. 1968;97:273-85.

3. Solomon LM, Esterly NB. Epidermal and other congenital organoid nevi. Curr Provi Pediatr. 1975;6:1-56.

4. Singal A, Dhaliwal U, Bhattacharyya SN , Rohatgi J, Singh N. Complex ocular choristomas in linear nevus sebaceous syndrome : a report of two cases. J Dermatol. 2001;28:259-64.

5. Brandling-Bennet HA, Morel KD. Epidermal nevi. Pediatr Clin North Am. 2010;57:1170-98.
 

 

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