Quintana Castanedo Lucía, Sánchez Orta Alba, Maseda Pedrero Rocío, Santos Simarro Fernando, Palomares Bralo María, Feito Rodríguez Marta, de Lucas Laguna Raúl
Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain.
Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, CIBERER, Madrid, Spain.
Pediatr Dermatol. 2020 May;37(3):517-519. doi: 10.1111/pde.14113. Epub 2020 Feb 11.
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare, severe, and recently described multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability, characteristic facial features, hypotonia, poor overall growth, and visual abnormalities. Mucocutaneous manifestations have not been reported so far among individuals with ZTTK syndrome. Herein, we present a patient with ZTTK syndrome due to a de novo mutation in SON gene, who has dental abnormalities and retronychia of the toenails. We suggest that mucocutaneous features may be a part of the phenotype.
朱-户田-竹之内-金氏（ZTTK）综合征是一种罕见、严重且最近才被描述的多系统发育障碍，其特征为精神运动发育迟缓、智力残疾、特征性面部特征、肌张力减退、整体生长发育不良以及视觉异常。迄今为止，ZTTK综合征患者中尚未有皮肤黏膜表现的报道。在此，我们报告一名因SON基因新发突变而患有ZTTK综合征的患者，该患者存在牙齿异常和脚趾甲逆剥。我们认为皮肤黏膜特征可能是该综合征表型的一部分。
