Fujisawa Tomomi, Fukao Toshiyuki, Shimomura Yutaka, Seishima Mariko
Department of Dermatology, Gifu University Graduate School of Medicine, Gifu, Japan.
J Dermatol. 2014 Jun;41(6):514-7. doi: 10.1111/1346-8138.12511.
Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal-dominant disease characterized by sparse and slow-growing scalp hair and craniofacial and skeletal abnormalities. We report here the case of two girls and their father who had TRPS type 1 and received a diagnosis of a new mutation of TRPS1 based on their clinical symptoms. Moreover, histological studies on skin samples obtained from one of the patients showed enhanced signal transducers and activator of transcription (STAT) 3 expression in the outer root sheath. However, TRPS1 protein expression was not reduced in the patient's follicles. These findings indicate that truncated TRPS1 protein from the mutant allele may be stably expressed in the patient's follicles and that enhanced STAT3 expression may be involved in the development of sparse and thin scalp hair in TRPS.
毛发-鼻-指综合征（TRPS）是一种常染色体显性疾病，其特征为头皮毛发稀疏且生长缓慢，伴有颅面及骨骼异常。我们在此报告两名患有1型TRPS的女孩及其父亲的病例，根据他们的临床症状诊断出TRPS1发生了新的突变。此外，对其中一名患者的皮肤样本进行的组织学研究显示，外根鞘中信号转导子和转录激活子（STAT）3的表达增强。然而，该患者毛囊中的TRPS1蛋白表达并未降低。这些发现表明，突变等位基因产生的截短型TRPS1蛋白可能在患者毛囊中稳定表达，且STAT3表达增强可能与TRPS患者头皮毛发稀疏和变细的发生有关。
