Melanoma in the setting of nevus of Ota: a review for dermatologists

Abstract

Nevus of Ota, also known as oculodermal melanocytosis or nevus fuscoceruleus ophthalmomaxillaris, is a benign dermal melanocytic nevus that most commonly affects Asian women. While the lesion is largely a cosmetic concern, it has the potential to undergo malignant transformation to melanoma. Patients with nevus of Ota often present to a dermatologist at some point for examination or removal with laser therapy. Therefore, it is important for dermatologists to understand the cutaneous and extracutaneous risks these lesions carry and how they may present to further optimize management and appropriate referrals. This review describes the demographic, clinical, and prognostic features of melanoma in the setting of nevus of Ota, divided by the nature of the primary melanoma: cutaneous, orbital, intracranial.

Comment on “Fatal GNAQ‐mutated CNS melanoma in an adolescent with nevus of Ota”

“…In contrast to neoplasms derived from sunexposed epithelial melanocytes, which typically harbor characteristic BRAF, NRAS, or TERT promoter mutations, most uveal (83%) and CNS (40%) melanomas carry a distinct genetic signature including activating point mutations of the G a -protein-coupled receptor genes GNAQ and GNA11. 2,3,5,6 These same mutations have been found in nonmalignant ODM tissues, suggesting an intriguing mechanism for the known association between ODM, uveal melanoma, 6 and now primary CNS melanoma.…”

“…In contrast to neoplasms derived from sunexposed epithelial melanocytes, which typically harbor characteristic BRAF, NRAS, or TERT promoter mutations, most uveal (83%) and CNS (40%) melanomas carry a distinct genetic signature including activating point mutations of the G a -protein-coupled receptor genes GNAQ and GNA11. 2,3,5,6 These same mutations have been found in nonmalignant ODM tissues, suggesting an intriguing mechanism for the known association between ODM, uveal melanoma, 6 and now primary CNS melanoma.In summary, although ODM may predispose patients to cutaneous or CNS melanoma as seen in this patient, such manifestations are rare relative to the development of uveal melanoma and glaucoma, which should be screened for by regular dilated ophthalmic examinations. Immediate referral to ophthalmology after the first diagnosis of ODM and regular follow-up thereafter are critical to preventing morbidity and mortality in these patients.…”

“…ODM is an uncommon condition with 5:1 female predominance and estimated prevalence of 0.04%, 0.01%, and 0.4%-0.8% across White, African American, and Asian populations respectively. 2,3 Clinically, it can manifest unilaterally or bilaterally, with purely dermal (35.4%), purely ocular (6.2%), or mixed (59.3%) patterns of blue/gray hyperpigmentation. 4 Within this spectrum, "nevus of Ota" applies specifically to ODM with dermal involvement.…”

The spectrum of melanocytic nevi and their clinical implications

“…If melanomas develop within an Ota’s nevus, they frequently show locally destructive growth. Out of eleven cases reported in the literature, five (45 %), developed metastases, mostly in the liver followed by the lungs [23].…”

An update on ophthalmological perspectives in oculodermal melanocytosis (Nevus of Ota)

“…ODM has the potential to undergo malignant transformation to melanoma, where it commonly presents in one of two locations: retro-orbital (within the intraconal space) or in the uveal tract [86]. The treatment of melanoma associated with ODM is similar to melanoma not associated with ODM [36].…”