From Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.
The authors have no financial or proprietary interest in the materials presented herein.
Address correspondence to Zia Chaudhuri, MS, MNAMS, FRCS (Glasg), E-310, Purvasha, Anand Lok Society, Mayur Vihar Phase 1, Delhi-110091, India.
Bathing trunk nevi, or giant congenital melanocytic nevi, represent a rare group of pigmented, often disfiguring, and potentially malignant lesions that usually present at birth.1,2 Cutis verticis gyrata is a rare skin deformity of the scalp area that presents with thick, parallel, hypertrophic, cerebriform gyral folds and ridges.3
Management of these extensive lesions poses a massive challenge to pediatricians, dermatologists, and plastic surgeons. Ophthalmic associations of both of these conditions are not well defined.
This report describes an unusual association of extensive giant congenital melanocytic nevi, cutis verticis gyrata, and bilateral ectopic lacrimal gland tissue in the orbit of a neonate. The mother of the patient had a pigmented patch over the right periorbital region and sclera, suggestive of nevus of Ota.
A 1-month-old male infant was referred to the pediatric ophthalmology services at Guru Nanak Eye Center, Maulana Azad Medical College, New Delhi, India, from the department of pediatrics at Maulana Azad Medical College with a diagnosis of giant congenital melanocytic nevi and cutis verticis gyrata. The infant had the classic features of bathing trunk nevi (Fig. 1) associated with hypertrophied longitudinal folds of the scalp, suggestive of cutis verticis gyrata (Figs. 2A and 2B). Findings on systemic and neuroradiologic examination were normal.
Figure 1. (A and B) an Extremely Rare Presentation of a Bathing Trunk Nevi, or Giant Congenital Melanocytic Nevi, in a Neonate. The Lesion Covers More than 80% of the Body Surface Area of the Patient.
Figure 2. (A and B) the Gyral Folds of the Scalp Skin, Suggestive of Cutis Verticis Gyrata, Are Characteristically Shown. (C) the Lobulated Epibulbar Mass in the Right Eye Is Present Circumferentially Around the Opacified Cornea. (D) a Similar Fleshy Mass Is Present in the Superior Epibulbar Area in the Left Eye. (E and F) the Masses Are Better Delineated Bilaterally After Appropriate Retraction.
Ocular examination was performed under anesthesia in both eyes. Examination of the right eye showed protrusion of a large, fleshy, pink epibulbar mass covering the entire temporal, superior, and inferior bulbar conjunctival area (Fig. 2C). The cornea showed significant sclerosis and was opaque in the center. The patient did not follow light with this eye, and fundus examination was not possible because of the corneal opacity. Ultrasonography of the posterior segment of the eye showed no abnormalities. On examination of the left eye, a similar pink, fleshy mass was identified on the superior aspect of the cornea, well hidden by the upper eyelid (Fig. 2D). In both eyes, the mass was examined further after both eyelids were retracted (Figs. 2E and 2F). The left eye was well formed, with normal intraocular structures seen on examination. On retinoscopy under anesthesia, no refractive error was found. The fundus was normal.
Bilateral incisional biopsy of the epibulbar mass was performed. Histopathologic examination of the mass showed normal lacrimal glandular tissue within a bed of loose connective tissue (Fig. 3).
Figure 3. (A) Histopathologic Scanner View (×4) of the Incised Epibulbar Tissue, Showing Abnormal Ectopic Lacrimal Rests Surrounded by Connective Tissue. Higher Magnification Views at (B) ×10 and (C) ×40 Show Normal Lacrimal Gland Architecture (hematoxylin–Eosin Stain).
The patient’s mother had periorbital melanosis and pigmentation of the sclera, suggestive of nevus of Ota (Fig. 4). The patient’s mother underwent complete ophthalmic examination. Anterior and posterior segment evaluation of both eyes showed no abnormalities. Visual acuity was 20/20 in both eyes, with no refractive errors. The patient’s mother was also specifically evaluated for glaucoma, and no abnormalities were found.
Figure 4. (A) Another Unusual Association Was the Presence of Abnormal Periorbital Pigmentation in the Patient’s Mother. (B) on Retracting the Eyelid of the Mother on the Side of the Periorbital Pigmentation, Scleral Pigmentation Suggestive of Nevus of Ota Was Documented. She Was Examined Further for Glaucoma and Other Anterior Segment Abnormalities.
Ectopic rests of normal tissues have been reported in the orbit, cornea, sclera, uvea, and retina. Epibulbar choristomas containing lacrimal tissue have been described.4,5 In the current case, the lesions were highly vascularized thickenings of the conjunctiva, with lobular elevations corresponding microscopically to lobules of lacrimal tissue. Superficial scarring and opacification of the cornea in association with the ectopic lacrimal mass, as seen in the right eye, has been described previously, but not in association with giant congenital melanocytic nevi and Cutis verticis gyrata.5
The association of ectopic rests of lacrimal tissue with giant congenital melanocytic nevi and Cutis verticis gyrata, as seen in the current patient, has not been described previously. Ophthalmic manifestations of giant congenital melanocytic nevi have not been described extensively. Isolated reports have mentioned associations with strabismus and fundal abnormalities.6 Some of these lesions have been hypothesized to be the result of a common underlying pathogenetic mechanism involving the neural crest cells. Similarly, reports of ophthalmic associations with cutis verticis gyrata have been sporadic and mention only minor ophthalmic abnormalities.7
The unusual feature of the current case is the large giant congenital melanocytic nevi covering approximately 80% of the patient’s body surface. The association with cutis verticis gyrata is rare, although cutis verticis gyrata has been described as an under-recognized neurocutaneous syndrome.1,7 The finding of sclerosis of the cornea in association with ectopic lacrimal tissue in a patient with the above two clinical diagnoses has not been described previously. In the current patient, it is difficult to predict the visual outcome in the right eye because of the occlusion perpetuated by the ectopic lacrimal gland and the corneal changes, but the left eye appears essentially normal and capable of good vision. Further elaboration of the patient’s visual capacity depends on good follow-up.
The association of nevus of Ota in the patient’s mother is difficult to explain on the basis of the clinical examination. The genetic basis may be difficult to hypothesize, given that there are no well-proven studies on this topic, despite extensive research.8,9 Thus, this finding may be accepted as another variation among the presentations of neurocutaneous syndromes seen in related patients, with some manifesting more and some manifesting fewer clinical features.
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- Chung C, Forte AJ, Narayan D, Persing J. Giant naevi: a review. J Craniofac Surg. 2006;17:1210–1215. doi:10.1097/01.scs.0000231619.95263.a2 [CrossRef]
- Hamm JC, Argenta LC. Giant cerebriform intradermal nevus. Ann Plast Surg. 1987;19:84–88. doi:10.1097/00000637-198707000-00015 [CrossRef]
- Hered RW, Hiles DA. Epibulbar osseous choristoma and ectopic lacrimal gland underlying a dermolipoma. J Pediatr Ophthalmol Strabismus. 1987;24:255–258.
- Pokorny HS, Hyman BM, Jacobiec FA, Perry HD, Caputo AR, Iwamoto T. Epibulbar choristomas containing lacrimal tissue: clinical distinction from dermoids and histologic evidence of an origin from the palpebral lobe. Ophthalmology. 1987;94:1249–1257.
- Kiratli H, Sahin A. Fundus features of a case of neurocutaneous melanosis. Ophthalmic Genet. 2004;25:271–276. doi:10.1080/13816810490498206 [CrossRef]
- Chang GY. Cutis verticis gyrata, underrecognized neurocutaneous syndrome. Neurology. 1996;47:573–575.
- Amir J, Metzker A, Nitzan M. Giant pigmented nevus occurring in one identical twin. Arch Dermatol. 1982;118:188–189. doi:10.1001/archderm.118.3.188 [CrossRef]
- Bataille V, Snieder H, MacGregor AJ, Sasieni P, Spector TD. Genetics for risk factor for melanoma: an adult twin study of nevi and freckles. J Natl Cancer Inst. 2000;92:457–463. doi:10.1093/jnci/92.6.457 [CrossRef]