Vander Does Ashley, Motosko Catherine, Yosipovitch Gil
Dr Phillip Frost Department of Dermatology, University of Miami, Miami, Florida, USA.
Dermatol Online J. 2022 Dec 15;28(6). doi: 10.5070/D328659729.
Segmental pigmentation anomalies can be further divided into segmental pigmentation disorder (SPD) complex and café-au-lait macules (CALMs). Both are congenital skin conditions characterized by hyper- or hypopigmentation. Segmental pigmentation disorder is a rare entity, whereas CALMs are common skin lesions that may be associated with various genetic conditions, especially when several are present and the patient has other indicators of a genetic abnormality. When the CALM is segmental, segmental neurofibromatosis (type V) may be considered in the differential diagnosis. Herein we present a 48-year-old woman with a history of malignant melanoma who presented with a large, linear, hyperpigmented patch on her shoulder and arm, present since around birth. The differential diagnosis consisted of CALM versus hypermelanosis (a subtype of SPD). Given a family history of a similar lesion, in addition to a personal and family history of melanoma and internal cancers, a hereditary cancer panel was completed demonstrating genetic variance of uncertain significance. This case brings attention to a rare dyspigmentation disorder and questions a possible association with melanoma.
节段性色素沉着异常可进一步分为节段性色素沉着障碍（SPD）综合征和咖啡斑（CALMs）。两者均为先天性皮肤疾病，其特征为色素沉着过多或过少。节段性色素沉着障碍是一种罕见的病症，而咖啡斑是常见的皮肤病变，可能与多种遗传疾病相关，尤其是当出现多个咖啡斑且患者有其他遗传异常指标时。当咖啡斑为节段性时，鉴别诊断中可能会考虑节段性神经纤维瘤病（V型）。在此，我们报告一名48岁有恶性黑色素瘤病史的女性，其肩部和手臂自出生左右就有一个大的、线性的色素沉着过度斑块。鉴别诊断包括咖啡斑与色素沉着过度（SPD的一种亚型）。鉴于有类似病变的家族史，除了患者个人及家族的黑色素瘤和内部癌症病史外，完成了一项遗传性癌症检测，结果显示存在意义不确定的基因变异。该病例引起了对一种罕见色素沉着异常疾病的关注，并对其与黑色素瘤的可能关联提出了疑问。
