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Concurrent Chondrodysplasia Punctata Type 2 (Conradi–Hunermann–Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls
Author(s) -
Jeong Haneol S.,
Funari Tara,
Gordon Katherine,
Richard Gabriele,
Agim Nnenna G.
Publication year - 2017
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13227
Subject(s) - ichthyosis , missense mutation , ichthyosis vulgaris , genetics , chondrodysplasia punctata , nonsense mutation , congenital ichthyosis , hyperkeratosis , medicine , dermatology , filaggrin , biology , gene , mutation , atopic dermatitis
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.