Itin P H, Pittelkow M R
Department of Dermatology, Mayo Clinic, Rochester, MN 55905.
J Am Acad Dermatol. 1990 May;22(5 Pt 1):705-17. doi: 10.1016/0190-9622(90)70096-z.
Trichothiodystrophy appears to represent a central pathologic feature of a specific hair dysplasia associated with several disorders in organs derived from ectoderm and neuroectoderm. The key finding is brittle hair with low sulfur content, but alternating dark and light bands under polarizing microscopy, trichoschisis, and absent or defective cuticle are additional important clues for the diagnosis of trichothiodystrophy. Our review of the literature revealed extensive associated findings in trichothiodystrophy. Classification of patients with trichothiodystrophy and other dysplasias is difficult because diminution of sulfur-rich protein in hair is not a sufficient marker to allow precise differentiation, although several similar ectodermal dysplasias can be excluded by demonstration of abnormal sulfur content in hair of patients with trichothiodystrophy. Patients with trichothiodystrophy should have a thorough evaluation for other associated manifestations, including investigation of photosensitivity and DNA repair defects. Detection of low-sulfur brittle hair syndrome is also important for genetic counseling because the disease appears to be inherited in an autosomal recessive pattern.
毛发硫营养不良似乎代表了一种特定毛发发育异常的核心病理特征，该异常与源自外胚层和神经外胚层的多个器官的多种疾病相关。关键发现是硫含量低的脆发，但偏振显微镜下的明暗交替带、毛发裂、角质层缺失或缺陷是诊断毛发硫营养不良的其他重要线索。我们对文献的回顾揭示了毛发硫营养不良广泛的相关发现。毛发硫营养不良患者与其他发育异常患者的分类很困难，因为毛发中富含硫的蛋白质减少并不是进行精确区分的充分标志，尽管通过证明毛发硫营养不良患者毛发中的硫含量异常可以排除几种类似的外胚层发育异常。毛发硫营养不良患者应针对其他相关表现进行全面评估，包括对光敏性和DNA修复缺陷的检查。检测低硫脆发综合征对遗传咨询也很重要，因为该疾病似乎以常染色体隐性模式遗传。
