Blume-Peytavi U, Föhles J, Schulz R, Wortmann G, Gollnick H, Orfanos C E
Department of Dermatology, Free University of Berlin, Germany.
Br J Dermatol. 1996 Feb;134(2):319-24.
Structural hair changes may be the expression of a genetic disorder affecting hair growth, part of a congenital syndrome with accompanying hair malformations, or a marker for an underlying metabolic disorder. We report a 22-month-old Turkish girl and her 10-month-old brother, whose scalp hair became fragile and sparse at about 6-7 months of age. Glucosuria, without diabetes or kidney disease, was detected 3-4 months later. Clinical examination revealed normal physical and mental development, and an analysis of plucked hairs showed dysplastic and broken hair shafts. Polarizing microscopy and scanning electron microscopic studies revealed torsion, and irregularities and impressions of the hair shaft, as seen in pili torti, trichorrhexis nodosa and pseudomonilethrix. Analysis of the amino-acid composition of the hair demonstrated a significant reduction of sulphonic cysteic acid and an elevated cysteine and lanthionine content in the girl, and elevated lanthionine levels in her brother. Electrophoretic analysis of the girl's hair proteins revealed a normal composition but a high extractability of hair proteins. The triad of hypotrichosis, structural hair-shaft defects and abnormal amino-acid composition, accompanied by glucosuria without diabetes, may represent a new genetic syndrome.
结构性毛发改变可能是影响毛发生长的遗传疾病的表现，是伴有毛发畸形的先天性综合征的一部分，或是潜在代谢紊乱的一个标志。我们报告一名22个月大的土耳其女孩及其10个月大的弟弟，他们的头皮毛发在大约6 - 7个月大时变得脆弱稀疏。3 - 4个月后检测到糖尿，但无糖尿病或肾脏疾病。临床检查显示身体和智力发育正常，对拔下毛发的分析显示毛干发育异常且有断裂。偏光显微镜和扫描电子显微镜研究显示毛发扭转，以及毛干不规则和压痕，如扭曲发、结节性脆发症和念珠状发所见。对女孩毛发氨基酸组成的分析显示磺酸半胱氨酸显著减少，半胱氨酸和羊毛硫氨酸含量升高，其弟弟的羊毛硫氨酸水平升高。对女孩毛发蛋白质的电泳分析显示组成正常，但毛发蛋白质的可提取性高。毛发稀少、毛干结构缺陷和氨基酸组成异常，伴有无糖尿病的糖尿，这三者可能代表一种新的遗传综合征。
