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.