University of Virginia School of Medicine, Charlottesville, VA.
Department of Dermatology, University of Virginia, Charlottesville, VA; and.
Am J Dermatopathol. 2022 May 1;44(5):e54-e56. doi: 10.1097/DAD.0000000000002133.
Neurocristic hamartomas (NCH) of cutaneous origin are especially rare congenital or acquired neoplasms that often arise through aberrant embryologic development of pluripotent neural crest cells. Clinically, they often present as pigmented macules or papules on the scalp with associated alopecia. NCHs are characterized histopathologically by dermal melanocytic, fibroblastic, and neurosustentacular components. Correct identification of this etiology is critical because of potential for malignant transformation, particularly in acquired NCHs. Our patient was a 6-year-old girl with xeroderma pigmentosum and confirmed XPC mutation followed in our dermatology clinic since the age of 3. She had a history of multiple actinic keratoses but no prior skin cancers. A 4-mm homogenous pink papule on the left frontal scalp concerning for basal cell carcinoma was noted during routine skin examination. After a 3-month course of 3 times weekly topical imiquimod, the lesion had grown to a 6 mm diameter. The patient was then referred to plastic surgery for definitive excision. Histologically, the lesion showed a well-circumscribed proliferation of spindle cells with a trabecular and nested growth pattern. Perivascular pseudorosettes were identified, as were areas that resembled well-differentiated neural tissue. The spindle cells diffusely expressed S100 protein, SOX10, and CD34, with patchy expression of Melan-A and HMB-45. PRAME was negative, and p16 was retained. Array comparative genomic hybridization was performed, and no clinically significant copy number or single nucleotide variants were detected. To the best of our knowledge, this is the first documented case in the literature of a cutaneous neurocristic hamartoma arising in a patient with xeroderma pigmentosum.
神经嵴错构瘤（NCH）起源于皮肤，是一种非常罕见的先天性或获得性肿瘤，通常由多能神经嵴细胞的胚胎发育异常引起。临床上，它们常表现为头皮上有色素沉着的斑片或丘疹，伴有脱发。NCH 的组织病理学特征为真皮黑色素细胞、成纤维细胞和神经支持细胞成分。由于存在恶性转化的潜在风险，特别是在获得性 NCH 中，正确识别这种病因至关重要。我们的患者是一名 6 岁女孩，患有着色性干皮病，自 3 岁起就在我们皮肤科诊所接受随访。她曾患有多处光化性角化病，但无皮肤癌病史。在常规皮肤检查中，发现左额头皮有一个 4 毫米大小的均质粉红色丘疹，怀疑为基底细胞癌。经过 3 个月 3 次/周的外用咪喹莫特治疗，病变直径增至 6 毫米。随后患者被转诊至整形外科进行明确切除。组织学上，病变显示出界限清楚的梭形细胞增生，呈小梁状和巢状生长模式。存在血管周围假玫瑰状结构，以及类似于分化良好的神经组织的区域。梭形细胞弥漫表达 S100 蛋白、SOX10 和 CD34，同时存在 Melan-A 和 HMB-45 的局灶性表达。PRAME 为阴性，p16 保留。进行了阵列比较基因组杂交，未检测到临床意义上的拷贝数或单核苷酸变异。据我们所知，这是文献中首例报道的在着色性干皮病患者中发生的皮肤神经嵴错构瘤。
