A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review.

Focal dermal hypoplasia (FDH) is an X-link dominant multisystemic disorder affecting both ectodermal and mesodermal tissues, which is usually characterized by patchy dermal hypoplasia, herniation of subcutaneous fat into the dermis, papillomas, dystrophic nails, and skeletal abnormalities.[1] I PORCN i was identified as the causative gene for FDH.[2] To date, 185 mutations in I PORCN i have been found in FDH patients, mostly within the I PORCN i gene coding sequence. Slightly fatty herniations on the left lumbar (Figure 1c), dystrophic nails (Figure 1d), and enamel hypoplasia of incisors were also observed but without abnormal growth or intelligence. [Extracted from the article]