Diaphragmatic paralysis in a neonate with circumferential skin creases Kunze type

Abstract

Circumferential skin creases-Kunze type (CSC-KT) is a rare autosomal-dominant inherited disease associated with pathogenic variants of TUBULIN BETA (TUBB; OMIM: #191130) and MICROTUBULE-ASSOCIATED PROTEIN, RP/EB FAMILY, MEMBER 2 (MAPRE2; OMIM: #605789) (Tinsa et al., 2009;Wouters et al., 2011). The typical clinical manifestations are skin creases on limbs, also known as Michelin Tire baby syndrome (Ross, 1969). Wouters et al. (2011) coined the term "CSC-KT," specifically referring to children with multiple malformations such as cleft palate, facial deformity, growth retardation, genital malformation, and intellectual disability (Kunze & Riehm, 1982;Wouters et al., 2011) in addition to CSC.TUBB and MAPRE2 gene mutations are associated with CSC-KT, which are consistent with the genetic heterogeneity of the disease (Isrie et al., 2015). The clinical phenotype was reported prior to the widespread clinical application of gene sequencing technology. A published limited cohort study found that TUBB and MAPRE2 genes were associated with the genotype-phenotype profile of CSC-KT (Breuss et al., 2012). The authors reported three missense mutations and one nonsense mutation in the calci-protein homology domain of the MAPRE2 gene and three missense mutations in the TUBB gene (Goldspink et al., 2013).