Lumbosacral hypertrichosis as a cutaneous manifestation of dysraphism

Sarah Preis, Tilo Biedermann, Christina Schnopp
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Abstract

A 11-year-old girl presented with hypertrichosis in the lumbosacral region, which has been present since birth. Right after birth, the girl underwent surgical intervention for spina bifida with no neurological impairment. On clinical examination, a circumscribed collection of terminal hair is observed on nonpigmented skin in the lumbar spine region (Figure 1a). Skin biopsy was performed, and histologic analysis revealed only a few scattered melanocytes in the basal epidermis and a characteristic dense aggregation of hair follicles (Figure 1b).

Lumbosacral hypertrichosis, also known as ‘Faun's tail’ after the Italian deity, is a classic sign of dysraphism.1 This generic term describes pathologic conditions related to improper closure of the caudal neuropore and encompasses all conditions associated with spina bifida occulta, traction band or diastematomyelia.1, 2 The division between the neuroectoderm and the epithelial ectoderm takes place between the third and fifth week of fetal development, commencing along the posterior midline.2 This separation may remain incomplete at various stages, resulting in potential defects in the skin, vertebrae, spinal cord and/or central nervous system, sometimes symptoms may not appear until the child is a toddler or older.3 Hence, in cases of lumbosacral hypertrichosis, consideration should be given to an underlying spinal abnormality, prompting subsequent relevant investigations. The most important differential diagnosis is congenital hairy nevus.

The authors confirm contribution to the paper as follows: Clinical case collection: Sarah Preis. Draft manuscript preparation: Sarah Preis. Manuscript review and proof-reading: Christina Schnopp. All authors reviewed the results and approved the final version of the manuscript.

The authors declare no conflict of interest.

The parents/guardians of minor patients have given written informed consent for their child's participation in the study, as well as for the use of their child's deidentified, anonymized, aggregated data and case details (including photographs) for publication. Ethical Approval: not applicable.

Abstract Image

腰骶部多毛症是发育异常的一种皮肤表现
一名 11 岁的女孩从出生起就患有腰骶部多毛症。女孩出生后立即接受了脊柱裂手术治疗,但未出现神经系统损伤。临床检查时,在腰椎部位无色素的皮肤上发现了一圈末端毛发(图 1a)。进行了皮肤活检,组织学分析显示基底表皮中仅有少量散在的黑素细胞,毛囊呈特征性密集聚集(图 1b)。腰骶部多毛症又称 "Faun's tail",取自意大利神灵的名字,是发育不良的典型表现。1 这一术语泛指与尾部神经孔闭合不全有关的病理状况,包括所有与闭锁性脊柱裂、牵引带或脊髓脊膜膨出有关的病症、2 神经外胚层和上皮外胚层之间的分离发生在胎儿发育的第三周至第五周,从后中线开始。2 这种分离在不同阶段可能仍不完全,导致皮肤、椎骨、脊髓和/或中枢神经系统的潜在缺陷,有时症状可能直到孩子蹒跚学步或更大时才出现。最重要的鉴别诊断是先天性毛痣:临床病例收集:Sarah Preis。稿件撰写:Sarah Preis。审稿和校对:Christina Schnopp:Christina Schnopp。未成年患者的父母/监护人已就其子女参与本研究以及使用其子女的去标识化、匿名化、汇总数据和病例详情(包括照片)进行发表提交了知情同意书。伦理批准:不适用。
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