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Melanoma risk is increased in fairer-skinned individuals. Interestingly, melanomas in patients with oculocutaneous albinism (OCA) are reported less frequently than one would expect given their extremely fair skin. To date, fewer than 70 instances of malignant melanoma in OCA patients have been reported. We present the case of a 50-year old African American female with OCA and a medical history of systemic lupus erythematosus, idiopathic thrombocytopenic purpura and deep vein thromboses, who presented with an amelanotic lesion on her lateral upper neck. Shave biopsy confirmed an ulcerated superficial spreading melanoma with Breslow depth of 2.2 mm with a mitotic rate of 3/mm 2. Staining for BRAF V600E was positive. Final staging after completion lymph node dissection of the neck was stage IIIC (T3bN2cM0). The patient completed adjuvant radiation therapy and is currently receiving adjuvant dabrafenib/trametinib. Review of existing literature reveals 64 malignant melanoma cases reported in 56 OCA individuals, with marked differences in frequencies of melanoma subtypes between OCA and general populations. Nodular melanomas, while only accounting for 5% of melanomas in the general population, are reported in 33% (n¼8) of the 24 OCA patients with histologic descriptions of their melanomas. The median age of melanoma diagnosis in OCA individuals is 41 versus 63 in the general population, suggesting melanomas occur earlier in albinism. Furthermore, amelanotic melanomas seem to predominate in OCA individuals, occurring in 65% (n¼30) of the 46 OCA cases that report tumor pigmentation. Amelanotic lesions present a diagnostic challenge requiring the use of dermoscopy to identify potentially malignant vascular patterns. Despite their rarity, melanomas in the setting of albinism have distinct epidemiological characteristics.
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