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

Ribero S, Carrera C, Tell-Marti G, Pastorino C, Badenas C, Garcia A, Malvehy J, Puig S. Br J Dermatol. 2017 May 27. doi: 10.1111/bjd.15687.

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) or other related genes. 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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KEYWORDS: ALBINISM ; DERMOSCOPY ; GENETIC ; MELANOMA ; REFLECTANCE CONFOCAL MICROSCOPY

PMID:28555837 DOI:10.1111/bjd.15687

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