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Amelanotic melanoma in a patient with trisomy 21: clinical and dermoscopic presentation
  1. Marion Leahy1,
  2. Karen Reidy1 and
  3. Mary Laing1,2
  1. 1Department of Dermatology, University Hospital Galway, Galway, Ireland
  2. 2National University of Ireland Galway, Galway, Ireland
  1. Correspondence to Dr Marion Leahy; marionleahy12{at}gmail.com

Abstract

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.

  • Dermatology
  • Skin
  • Skin cancer

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Footnotes

  • Contributors MLeahy completed a literature review and wrote the paper. KR also completed the literature review and revised the paper. MLaing supervised the project, corrected it and edited it.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.