Amelanotic melanoma in a patient with oculocutaneous albinism

Dermatol Online J. 2020 May 15;26(5):13030/qt2gv5w93x.


Oculocutaneous albinism is a genetically heterogeneous, autosomal recessive group of disorders characterized by a generalized decreased or absence of melanin pigment in the eyes, hair, and skin. These patients have a greater sensitivity to UV radiation and a predisposition to skin tumors, mainly squamous cell carcinoma and basal cell carcinomas, and to a lesser extent malignant melanomas. Melanoma can be one of the most challenging cancers to diagnose in patients with albinism. We report an uncommon clinical presentation of melanoma, an amelanotic melanoma in the right supraciliar region in a patient with oculocutaneous albinism. The clinical presentation was an erythematous, scaly and ill-defined plaque. The skin biopsy revealed a lentigo maligna melanoma. Amelanotic melanomas are one of the two most difficult to diagnose subtypes of melanoma, together with the nevoid type. Melanoma in oculocutaneous albinism patients are often amelanotic, which makes their clinical diagnosis very difficult. These patients should be examined in the dermatology department at least once a year and it is recommended to have a high index of suspicion.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Albinism, Oculocutaneous / complications*
  • Child
  • Dermoscopy
  • Female
  • Humans
  • Infant
  • Male
  • Melanoma, Amelanotic / complications
  • Melanoma, Amelanotic / diagnosis
  • Melanoma, Amelanotic / pathology*
  • Middle Aged
  • Skin Neoplasms / complications
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / pathology*