A 2‐month‐old male with surgically resected sacral chordoma presented with multiple hypopigmented macules showing characteristic patchy, sharply demarcated areas of pigment network on dermoscopy. These dermoscopic findings were suggestive of the ash‐leaf macules of tuberous sclerosis over other common hypopigmented macules in neonates. Chordomas presenting in early childhood in the sacral location have been reported as a rare manifestation of tuberous sclerosis complex. The combination of these findings led to a diagnosis of tuberous sclerosis, confirmed with the finding of a heterozygous TSC2 gene deletion; treatment with sirolimus resulted in regression of cardiac rhabdomyomas and hypopigmented macules.

中文翻译：

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对一名患有骶骨脊索瘤的婴儿进行色素减退斑的皮肤镜检查，揭示了 2 型结节性硬化症的基因诊断

一名 2 个月大的男性，患有手术切除的骶骨脊索瘤，出现多个色素减退斑疹，皮肤镜检查显示特征性斑片状、界限分明的色素网络区域。这些皮肤镜检查结果提示新生儿结节性硬化症的灰叶斑比其他常见的色素减退斑更明显。据报道，儿童早期出现在骶骨位置的脊索瘤是结节性硬化症的罕见表现。这些发现的结合导致结节性硬化症的诊断，并通过杂合子的发现得到证实。TSC2基因缺失；西罗莫司治疗导致心脏横纹肌瘤和色素减退斑消退。