X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-H ünerman-Happle syndrome, is a rare skeletal dysplasia characterized by short stature, craniofacial defects, cataracts, ichthyosis, coarse hair, and alopecia. It is caused by mutations in the EBP gene located on the X chromosome and is seen almost exclusively among female patients, since it seems to be lethal early in male children. In this case report, Morice-Picard et al describe a small erythematous ichthyosiform skin lesion in an otherwise asymptomatic mother of a girl with CDPX2. Skin biopsy confirmed postzygotic cutaneous mosaicism, and transmission of this disorder to the daughter suggests gonadal mosaicism. Thorough skin and ophthalmologic examinations are warranted in mothers of children born with CDPX2, with appropriate genetic counseling.