Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study

Abstract

Herein we describe the usefulness of a successful combination of dermoscopy and in vivo RCM for the early diagnosis of 3 AM in 2 OCA patients OCA is a group of rare autosomal recessive disorders of pigmentation. It consists in the absence or reduction of melanin in the skin, hair, and eyes due to a partial or total deficit in the activity of tyrosinase(TYR)¹ or other related genes^2,3. Those patients are at higher risk of non melanoma skin cancer, while still debated is their increased risk of melanoma, in particular amelanotic⁴. They usually lack in clinical and dermoscopic pattern, what makes them challenging to be diagnosed, especially at early stage.

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