An Xp11.23 deletion containing PORCN may also clause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation

摘要

In the May 2007 issue of European Journal of Human Genetics, a three-generation family with an X-linked dominant form of a rare skin condition called angioma serpiginosum (OMIM no. 300652) was described. The presence of very mild nail dystrophy, with affection of no more than 1-4 nails per patient, and concomitant non-symptomatic oesophageal papillomatosis, led to the suggestion that angioma serpiginosum might be allelic to focal dermal hypoplasia (FDH). The affected females' only complaint was cosmetic due to the emergence of vascular streaks along Blaschko's lines. The rash progressed from childhood to adulthood. Growth was normal, and no bodily asymmetry was present. None of the individuals had hand, eye, skeletal or other malformations commonly found in FDH patients.