FAZ - Floridsdorf Allergy Center, Vienna, Austria.
J Dtsch Dermatol Ges. 2010 Feb;8(2):102-4. doi: 10.1111/j.1610-0387.2009.07125_supp.x.
The tricho-dento-osseous syndrome is a rare genetic disorder due to a mutation in the DLX3 gene on chromosome 17q21. It can affect hair, teeth, bone and nails, causing phenotypic variability. We report on an 8-year-old girl with tricho-dento-osseous syndrome, who presented in our allergy center with severe atopic dermatitis. Additional clinical findings included light, kinky hair reminiscent of pili trianguli et canaliculi (uncombable hair), enamel hypoplasia and enlarged pulp chambers of the molar teeth (taurodontism). A genetic investigation revealed a de-novo mutation in the DLX3 gene on chromosome 17q21. Electron microscopic examination of the curly hair showed a flattened hair shaft with longitudinal grooves.
毛发-牙-骨综合征是一种罕见的遗传性疾病，由 17q21 染色体上的 DLX3 基因突变引起。它可以影响头发、牙齿、骨骼和指甲，导致表型多样性。我们报告了一例 8 岁女孩患有毛发-牙-骨综合征，她因严重特应性皮炎在我们的过敏中心就诊。其他临床发现包括类似于三角发和小管发的浅色、卷曲的头发（不可梳理的头发）、釉质发育不全和磨牙的牙髓腔增大（尖牙畸形）。基因研究显示 17q21 染色体上的 DLX3 基因存在新生突变。对卷曲头发的电子显微镜检查显示，毛发的横截面呈扁平状，有纵向的凹槽。
