Concurrent Chondrodysplasia Punctata Type 2 (Conradi–Hunermann–Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls. Issue 5 (21st July 2017)

• Record Type: Journal Article
• Authors: Jeong, Haneol S.; Funari, Tara; Gordon, Katherine; Richard, Gabriele; Agim, Nnenna G.
• Is Part Of: Pediatric dermatology. Volume 34:Issue 5(2017:Sep./Oct.)
• Page Start: e245
• Page End: e248
• Publication Date: 2017-07-21
• Subjects: Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.13227
• Languages: English
• ISSNs: 0736-8046

Abstract

Abstract: We present concurrent X‐linked chondrodysplasia punctata and ichthyosis vulgaris in adolescent fraternal twin girls, notable for initial presentation with dry skin in adolescence, characterized by dark‐brown scale typical of ichthyosis vulgaris and blaschkolinear, atrophic, scaly plaques. This constellation of findings prompted further genetic investigation. Using a multigene approach to examine 39 genes associated with congenital ichthyosis, next‐generation sequencing revealed a novel heterozygous missense mutation at a mutational hotspot in the EBP gene c.439C>T (p.R147C) in conjunction with a single nonsense mutation in the FLG gene (p.R501X) in both sisters. These individuals highlight the clinical variability of Conradi–Hunermann–Happle syndrome, illustrate the possibility of co‐occurrence of rare and common forms of ichthyosis, and demonstrate the utility of multigene analysis.