Amelanotic melanoma is an uncommon form of melanoma; accounting for 2%-8% of all melanoma cases. In the human population, the incidence of melanoma in patients with trisomy 21 is relatively unknown. It is theorised that having an extra copy of chromosome 21 is protective against melanoma development as people with trisomy 21 also carry an extra copy of the genes on that chromosome including any that protect against cancer. A literature review revealed four other reported cases of cutaneous melanoma in persons with trisomy 21. To the authors' knowledge, this is the first case of amelanotic melanoma presenting in a patient with trisomy 21 and the fifth case of melanoma overall reported in a patient with trisomy 21.This case highlights the need for specialist referral of all new skin lesions where the diagnosis is unclear.
Keywords: Dermatology; Skin; Skin cancer.
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