Epidermal nevus syndrome associated with ocular symblepharon and gum hypertrophy - A rare variant

Epidermal nevus syndrome ISSN: 2394-0026 (P)Case Report ISSN: 2394-0034 (O)Epidermal nevus syndrome associated withocular symblepharon and gum hypertrophy - A rare variant Usha Kataria1*, Dinesh Chhillar21Department of Dermatology, BPS Govt. Medical College for Women, Haryana, India 2Department of Forensic Medicine, PGIMS, Rohtak, Haryana, India*Corresponding author email: [email protected] to cite this article: Usha Kataria, Dinesh Chhillar. Epidermal nevus syndrome associated withocular symblepharon and gum hypertrophy - A rare variant. IAIM, 2015; 2(3): 161-164.Available online at www.iaimjournal.comReceived on: 08-02-2015 Accepted on: 20-02-2015AbstractEpidermal nevi are congenital hamartomas of embryonal ectodermal origin classified on the basis oftheir main component. The component may be sebaceous, apocrine, eccrine, follicular orkeratinocytic. An estimated 1/3 of individuals with epidermal nevi have involvement of other organsystems; hence this condition is considered to be epidermal nevus syndrome. Solomon definedepidermal nevus syndrome as a sporadic neuro-cutaneous linkage of congenital ectodermal defectsin the skin, brain, eyes and skeleton, now also referred to as Solomon syndrome. The syndromes areuncommon. Mortality and morbidity are associated with systemic anomalies.Key wordsEpidermal nevi, Congenital, Hamartomas, Sebaceous, Neuro-cutaneous.Introduction ocular symblepharon and gum hypertrophy on one side of face. Although various complicationsEpidermal nevus syndrome is a disorder first have been reported [2, 3], the present findingsproposed in 1968 by Solomon, et al. [1]. have not previously been described.Although no clear definition has yet beenpresented, it is generally understood to be a Case reportrare, non-hereditary congenital disorder A 10 years old girl born from non-involving an epidermal nevus, anomalies of CNS, consanguineous parents presented with dark,eyes and osseous tissues [1, 2]. The ocular verrucous hyper keratotic plaques over the leftcomplications are present in about 10-30% cases side of scalp and face and swelling of left eyeof syndrome. We describe herein a case of since birth. Her birth weight was normal. Theepidermal nevus syndrome associated withInternational Archives of Integrated Medicine, Vol. 2, Issue 3, March, 2015. Page 161Copy right © 2015, IAIM, All Rights Reserved.

Epidermal nevus syndrome ISSN: 2394-0026 (P) ISSN: 2394-0034 (O)reddish mass in the left eye was increasing in beginning of the similar lesions on the right eyesize since then, causing her vision impairment. as well. There was maxillary and gumThe other siblings were normal. The parents had hypertrophy over the left premolar area. (Photoalso never suffered from any form of follicular - 3)hyperkeratosis or such ocular illness. There wasno apparent family history of congenital Photo – 2: Left eye showing symblepharon.disorder.On cutaneous examination, there wasinvolvement of scalp with hyper pigmented,hyperkeratotic verrucous plaques extended upto the left side of face. (Photo - 1) On squeezingthe scalp lesions, few lesions were showingwhite cheesy material coming out of it.Photo – 1: Sebaceous nevus over the left side ofscalp extended up to the face. Photo – 3: Gum hypertrophy over the left premolar area.Ocular examination revealed a large reddish CT imaging reveals eccentric expansile cysticbrown mass on the superior temporal quadrant lesion in the left half of maxillary bone involvingof the conjunctiva. The mass was soft, non incisor, canine and first premolar tooth. Thereducible and non compressible and adherent topalpabral and bulbar conjunctiva. Cornearevealed clouding. (Photo - 2) There wasInternational Archives of Integrated Medicine, Vol. 2, Issue 3, March, 2015. Page 162Copy right © 2015, IAIM, All Rights Reserved.

Epidermal nevus syndrome ISSN: 2394-0026 (P) ISSN: 2394-0034 (O)lesion showed dense internal calcification within years. In 1895, Jadassohn described localizedit, likely as odentogenic keratocyst. There was congenital lesions on the face and scalp, namingunilateral proptosis of left eye ball inferio- them as “organ nevi” [4]. Epidermal nevuslaterally with increased supra and retro bulbar syndrome demonstrates a variety offat. Focal choroidal calcification in supero- phenotypes. Different tissues have differentmedial left eyeball and medial aspect of right embryonal origin. Skin arises from surfaceeyeball. Left preseptal thickening and soft tissue ectoderm; bone tissue from mesoderm andthickening in left temporal and occipital region nervous tissue including eyes arise from neuro-were as likely soft tissue lesion. Bossing of left ectoderm. Ocular complications describedfrontal bone was present. include tumors of eyelids, conjuctiva, cornea or sclera; coloboma of eyelid, ossification of sclera,In skin biopsy, the epidermis shows mild corneal and vitreous opacities [5]. As the eyeacanthosis and papillomatosis with immature contains various tissues originating from theand abnormally formed pilosebaceous units. surface ectoderm, mesoderm and neuro-Histological features were consistent with ectoderm, abnormal differentiation may takesebaceous nevus. (Photo – 4, Photo - 5) place in ocular tissue associated with epidermalConjunctival biopsy showed conjunctiva with nevus syndrome.severe inflammation. On general physicalexamination, the child was moderately built and Photo – 5: Skin biopsy exhibiting lobules ofnourished. Vitals were normal. All routine abnormally formed pilosebaceous units. (H & E,investigations were within normal limits. 10X)Photo – 4: The epidermis shows mild acanthosisand papillomatosis with immature andabnormally formed pilosebaceous units. (H & E,4X)Discussion The skin lesions of this patient fulfil the criteria of an epidermal nevus because they represent aThe association of epidermal nevi with visible, circumscribed and long lasting skinabnormalities in other organ systems has been disorder suggesting mosaicism. It appearsdescribed in the literature for more than100 difficult, however to categorize this anomaly within the group of established type of epidermal nevi. Our case closely resemble with the Schimmelpenning syndrome. Sebaceous nevus is the hallmark of the syndrome asInternational Archives of Integrated Medicine, Vol. 2, Issue 3, March, 2015. Page 163Copy right © 2015, IAIM, All Rights Reserved.

Epidermal nevus syndrome ISSN: 2394-0026 (P) ISSN: 2394-0034 (O)present in our case. This phenotype was 2. Sugarman JL. Epidermal nevuscomprehensively described by Schimmelpenning syndromes. Semin Cutan Med Surg,in 1957 [6]. His patient had epileptic seizures, 2007; 26: 221–230.deformity of skull, coloboma of eyelid, 3. Rogers M, McCrossin I, Commens C.symblepharon, corneal opacity and ipsilateral Epidermal nevi and the epidermal nevusnevus sebaceous of scalp and face. The syndrome. A review of 131 cases. J Amsyndrome always occurs sporadically. This may Acad Dermatol, 1989; 20: 476–488.be the best explained by the action of a lethal 4. Jadassohn J. Bemerkungen zur histologiemutation that survives by mosaicism [7]. The der systematisierten naevi undphenotype is not heritable because the ubertlgdrusen naevi. Arch Dermatolunderlying mutation, when present in zygote, Syphilol, 1895; 33: 355-94.will lead to death of embryo. Cells that carry 5. Traboulsi EI, Zin A, Massicotte SJ,mutation can survive only in close proximity to Kosmorsky G, Kotagal P, Ellis FD.normal cells. Posterior scleral choristoma in the organoid nevus syndrome (linear nevusConclusion sebaceus of Jadassohn). Ophthalmology,It is a rare case of sebaceous nevus with ocular 1999; 106: 2126–2130.involvement and gum hypertrophy under the 6. Schimmelpenning GW. Klinischer Beitragumbrella of epidermal nevus syndrome. zur Symptomatologie der Phakomatosen. Fortschr Rontgenstr,References 1957; 87: 716-20. 1. Solomon LM, Fretzin DF, Dewald RL. The 7. Happle R. Cutaneous manifestation of epidermal nevus syndrome. Arch lethal genes. Hum Genet, 1986; 72: 280. Dermatol, 1968; 97: 273–285.Source of support: Nil Conflict of interest: None declared.International Archives of Integrated Medicine, Vol. 2, Issue 3, March, 2015. Page 164Copy right © 2015, IAIM, All Rights Reserved.