Ruiz-Sanchez D, Garabito Solovera E L, Valtueña J, Aguado Garcia A, Garayar Cantero M, Martinez Garcia G, Manchado Lopez P
Department of Dermatology, Hospital Clinico Universitario de Valladolid, Valladolid.
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.
眼皮肤白化病是一组具有遗传异质性的常染色体隐性疾病，其特征是眼睛、头发和皮肤中黑色素普遍减少或缺失。这些患者对紫外线辐射更为敏感，易患皮肤肿瘤，主要是鳞状细胞癌和基底细胞癌，患恶性黑色素瘤的几率相对较小。黑色素瘤可能是白化病患者最难诊断的癌症之一。我们报告了一例黑色素瘤的罕见临床表现，一名眼皮肤白化病患者右侧眉上区域出现无色素性黑色素瘤。临床表现为红斑、鳞屑性且边界不清的斑块。皮肤活检显示为恶性雀斑样黑色素瘤。无色素性黑色素瘤是黑色素瘤中最难诊断的两种亚型之一，与痣样型并列。眼皮肤白化病患者的黑色素瘤通常为无色素性，这使得其临床诊断非常困难。这些患者应每年至少在皮肤科检查一次，建议高度怀疑该病。
