Oon Hazel H, Sze Chan Agnes Wai, Lee Joyce Siong See, Leow Yung Hian, Giam Yoke Chin
National Skin Centre, Dermatology Hospital, Singapore.
Int J Trichology. 2013 Jan;5(1):35-7. doi: 10.4103/0974-7753.114717.
Trichothiodystrophy (TTD) is an autosomal recessive condition characterized by brittle and sparse sulfur deficient hair. The disorder is due to a known genetic mutation in DNA nucleotide excision repair (NER) in up to 83% of cases. We describe a 13-month-old girl presenting with hair fragility and hair loss since age 3 months, and discuss the overlap between TTD and other NER diseases. This case report highlights the importance of early diagnosis of occult learning disorder in young children with TTD and the need for early assessment and involvement of multidisciplinary team to target the child's educational needs.
毛发硫营养不良（TTD）是一种常染色体隐性疾病，其特征为毛发脆弱且稀疏，含硫量不足。在高达83%的病例中，该病症是由已知的DNA核苷酸切除修复（NER）基因突变所致。我们报告了一名13个月大的女童，自3个月大起就出现毛发脆弱和脱发的症状，并探讨了TTD与其他NER疾病之间的重叠情况。本病例报告强调了对患有TTD的幼儿隐匿性学习障碍进行早期诊断的重要性，以及早期评估和多学科团队参与以满足儿童教育需求的必要性。
