van Steensel Maurice, Vreeburg Maaike, Urbina Maria T, López Paul, Morice-Picard Fanny, van Geel Michel
Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands; GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands; Institute of Medical Biology, Immunos, Singapore.
Exp Dermatol. 2015 Mar;24(3):222-4. doi: 10.1111/exd.12624.
Monilethrix is an autosomal dominant hair disorder caused by mutations in the hard keratins KRT81, KRT83 and KRT86. The affected hairs are fragile and break easily, leading to scarring alopecia. Follicular hyperkeratosis in the neck and on extensor sides of extremities is a frequently associated finding. The disorder is rare, but probably underreported because its manifestations may be mild. Mutations in KRT81 and KRT86 are the most common. Here, we report new cases from Venezuela, the Netherlands, Belgium and France. The Venezuelan kindred is special for having patients with digenic novel nucleotide changes, a KRT86 mutation associated with monilethrix and a KRT81 variant of unknown clinical significance. In the French and Dutch patients, we found novel KRT86 and KRT83 mutations. Our findings expand the mutational spectrum associated with monilethrix.
念珠状发是一种常染色体显性遗传性毛发疾病，由硬角蛋白KRT81、KRT83和KRT86的突变引起。受累毛发脆弱易折断，导致瘢痕性脱发。颈部和四肢伸侧的毛囊角化过度是常见的相关表现。该疾病较为罕见，但可能因症状较轻而报告不足。KRT81和KRT86的突变最为常见。在此，我们报告来自委内瑞拉、荷兰、比利时和法国的新病例。委内瑞拉家族具有特殊性，其患者存在双基因新核苷酸变化，一个与念珠状发相关的KRT86突变和一个临床意义未知的KRT81变异体。在法国和荷兰患者中，我们发现了新的KRT86和KRT83突变。我们的研究结果扩展了与念珠状发相关的突变谱。
