Veres Klara, Nagy Nikoletta, Háromszéki Béla, Solymosi Ágnes, Vass Viktoria, Széll Márta, Szalai Zsuzsanna Zsófia
Klara Veres, MD, Department of Pediatric Dermatology of Heim Pál Children's Hospital, Üllői u. 86, 1089 Budapest, Hungary;
Acta Dermatovenerol Croat. 2018 Jun;26(2):169-172.
Trichothiodystrophy, also called sulphur-deficient brittle hair syndrome, is a rare autosomal recessive genetic disorder of DNA repair and transcription. Trichothiodysthrophy is characterised by dry, thin, easily broken hair, showing alternating light and dark pattern called 'tiger tail' banding under polarizing light microscopy. According to our knowledge, our report is the first one on this rare disorder from Hungary: a case of a 9-year-old boy showing clinical features typical of trichotiodystrophy. Sequence analysis of the ERCC2 gene identified two recurrent trichothidodystrophy missense heterozygous mutations - c.934G/A p.Asp312Asn (CM015299) and c.2251A/C p.Lys751Gln (CM004814) - suggesting compound heterozygous state of the patient and confirming the clinically suspected diagnosis of trichothiodystrophy.
毛发硫营养不良，也称为硫缺乏性脆发综合征，是一种罕见的常染色体隐性遗传性DNA修复和转录障碍疾病。毛发硫营养不良的特征是头发干燥、稀疏、易折断，在偏振光显微镜下呈现交替的明暗图案，称为“虎尾”条纹。据我们所知，我们的报告是匈牙利首例关于这种罕见疾病的报道：一名9岁男孩表现出毛发硫营养不良的典型临床特征。ERCC2基因的序列分析确定了两个复发性毛发硫营养不良错义杂合突变——c.934G/A p.Asp312Asn（CM015299）和c.2251A/C p.Lys751Gln（CM004814）——提示患者为复合杂合状态，并证实了临床上疑似的毛发硫营养不良诊断。
