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Abstract：
BACKGROUND: Acral amelanotic melanomas (AAMs), a rare subset of melanomas located on acral sites such as the palms, soles, and subungual areas, are diagnostically challenging due to their lack of typical pigmentation and often benign clinical appearance. Misdiagnosis is common, leading to delays in treatment and potentially worse outcomes. This systematic review aims to synthesise evidence on cases of AAM initially misdiagnosed as other conditions, to better understand their clinical and epidemiological characteristics, diagnostic pitfalls, and management strategies.
METHODS: A comprehensive search of the MEDLINE/PubMed, EMBASE, and SCOPUS databases was conducted up to March 2024. Case reports and small case series of AAMs initially misdiagnosed as other conditions were included. Data on patient demographics, clinical presentation, and diagnostic methods were collected and analyzed.
RESULTS: Of the 152 records identified, 26 cases from 23 articles met the inclusion criteria. A demographic analysis revealed that the gender distribution appears to be perfectly balanced, with an age range of 38 to 91 years. Misdiagnoses included non-healing ulcers or traumatic lesions (37.5%), benign proliferative lesions (29.2%) and infectious lesions (20.8%). The foot was the most affected site (53.8%). Notably, a histological evaluation was performed in 50% of cases involving the upper extremities, in contrast to only 7.1% of cases involving the foot and 0% of cases of the heel. This discrepancy suggests a reluctance to perform biopsies in the lower extremities, which may contribute to a higher misdiagnosis rate in these areas.
CONCLUSIONS: The underutilization of biopsy in the diagnosis of lower extremity lesions contributes significantly to the misdiagnosis and delay in treatment of AAMs. Especially when the clinical assessment and dermoscopy are inconclusive, biopsies of suspicious lesions are essential. Immunohistochemistry and markers such as PRAME are critical in differentiating melanoma from other malignancies such as clear cell sarcoma. This review highlights the need for increased vigilance and a proactive diagnostic approach to increase early detection rates and improve prognostic outcomes.
METHODS: A comprehensive search of the MEDLINE/PubMed, EMBASE, and SCOPUS databases was conducted up to March 2024. Case reports and small case series of AAMs initially misdiagnosed as other conditions were included. Data on patient demographics, clinical presentation, and diagnostic methods were collected and analyzed.
RESULTS: Of the 152 records identified, 26 cases from 23 articles met the inclusion criteria. A demographic analysis revealed that the gender distribution appears to be perfectly balanced, with an age range of 38 to 91 years. Misdiagnoses included non-healing ulcers or traumatic lesions (37.5%), benign proliferative lesions (29.2%) and infectious lesions (20.8%). The foot was the most affected site (53.8%). Notably, a histological evaluation was performed in 50% of cases involving the upper extremities, in contrast to only 7.1% of cases involving the foot and 0% of cases of the heel. This discrepancy suggests a reluctance to perform biopsies in the lower extremities, which may contribute to a higher misdiagnosis rate in these areas.
CONCLUSIONS: The underutilization of biopsy in the diagnosis of lower extremity lesions contributes significantly to the misdiagnosis and delay in treatment of AAMs. Especially when the clinical assessment and dermoscopy are inconclusive, biopsies of suspicious lesions are essential. Immunohistochemistry and markers such as PRAME are critical in differentiating melanoma from other malignancies such as clear cell sarcoma. This review highlights the need for increased vigilance and a proactive diagnostic approach to increase early detection rates and improve prognostic outcomes.
摘要：
背景：肢端色素性黑色素瘤（AAMs），位于肢端部位的罕见黑素瘤子集，如手掌，鞋底,和下甲区，由于缺乏典型的色素沉着和通常是良性的临床表现，因此在诊断上具有挑战性。误诊很常见,导致治疗延误和可能更糟糕的结果。本系统综述旨在综合最初误诊为其他疾病的AAM病例的证据。为了更好地了解他们的临床和流行病学特征，诊断陷阱，和管理策略。
方法：全面搜索MEDLINE/PubMed，EMBASE,和SCOPUS数据库进行到2024年3月。包括最初误诊为其他疾病的病例报告和小病例系列AAM。患者人口统计数据，临床表现,收集并分析诊断方法。
结果：在确定的152条记录中，23条26例符合纳入标准。人口统计分析表明，性别分布似乎完全平衡，年龄范围为38至91岁。误诊包括不愈合的溃疡或创伤性病变（37.5%），良性增生性病变（29.2%）和感染性病变（20.8%）。脚是受影响最大的部位（53.8％）。值得注意的是,在50％的涉及上肢的病例中进行了组织学评估，相比之下，只有7.1％的病例涉及足部，0％的病例涉及足跟。这种差异表明不愿在下肢进行活检，这可能导致这些地区的误诊率较高。
结论：活检在下肢病变诊断中的应用不足，是AAMs误诊和延误治疗的重要原因，尤其是在临床评估和皮肤镜检查尚无定论的情况下，可疑病变的活检是必不可少的。免疫组织化学和标记如PRAME在区分黑素瘤与其他恶性肿瘤如透明细胞肉瘤方面是关键的。这篇综述强调了提高警惕性和主动诊断方法的必要性，以提高早期检出率并改善预后结果。
方法：全面搜索MEDLINE/PubMed，EMBASE,和SCOPUS数据库进行到2024年3月。包括最初误诊为其他疾病的病例报告和小病例系列AAM。患者人口统计数据，临床表现,收集并分析诊断方法。
结果：在确定的152条记录中，23条26例符合纳入标准。人口统计分析表明，性别分布似乎完全平衡，年龄范围为38至91岁。误诊包括不愈合的溃疡或创伤性病变（37.5%），良性增生性病变（29.2%）和感染性病变（20.8%）。脚是受影响最大的部位（53.8％）。值得注意的是,在50％的涉及上肢的病例中进行了组织学评估，相比之下，只有7.1％的病例涉及足部，0％的病例涉及足跟。这种差异表明不愿在下肢进行活检，这可能导致这些地区的误诊率较高。
结论：活检在下肢病变诊断中的应用不足，是AAMs误诊和延误治疗的重要原因，尤其是在临床评估和皮肤镜检查尚无定论的情况下，可疑病变的活检是必不可少的。免疫组织化学和标记如PRAME在区分黑素瘤与其他恶性肿瘤如透明细胞肉瘤方面是关键的。这篇综述强调了提高警惕性和主动诊断方法的必要性，以提高早期检出率并改善预后结果。
