Alfandari S, Delaporte E, van Neste D, Lucidarme-Delespierre E, Piette F, Bergoend H
Department of Dermatology, University Hospital Center, Lille, France.
Dermatology. 1993;186(3):197-200. doi: 10.1159/000247345.
We describe a new case of isolated trichothiodystrophy. This entity is characterized by sparse and brittle hair, low sulfur hair content, tiger tail pattern of the hair under polarizing microscopy, clean transverse fractures through the hair shaft and absent or defective hair cuticles. To our knowledge there are only two reported cases of isolated trichothiodystrophy without associated additional ectodermal or neuroectodermal dysplasias. Polarized microscopy of cut hair showed transverse fracture points (trichoschisis) and alternating dark and bright bands. Low sulfur content of the hairs was confirmed by amino acid analysis. Many acronyms and eponyms have been created to describe sulfur-deficient brittle hair associated with neuroectodermal abnormalities, leading to confusion. We suggest to use a simple classification scheme, according to increasing severity of associated features as proposed by Van Neste.
我们描述了一例孤立性毛发硫营养不良的新病例。该病症的特征为头发稀疏且易折断、毛发含硫量低、偏振显微镜下毛发呈虎尾样、毛干出现整齐的横向断裂以及毛小皮缺失或有缺陷。据我们所知，仅有两例孤立性毛发硫营养不良的报道，且不伴有其他外胚层或神经外胚层发育异常。剪下头发的偏振显微镜检查显示有横向断裂点（裂发症）以及明暗交替的条纹。通过氨基酸分析证实毛发含硫量低。为描述与神经外胚层异常相关的缺硫脆发，已创造了许多首字母缩略词和人名 地名 等专用名词，这导致了混淆。我们建议按照Van Neste提出的根据相关特征严重程度增加的方式，采用一种简单的分类方案。
