1. Olmsted syndrome with alopecia universalis caused by heterozygous mutation in PERP.
- Author
-
Dai, S., Sun, Z., Lee, M., Wang, H., Yang, Y., and Lin, Z.
- Subjects
- *
PALMOPLANTAR keratoderma , *BALDNESS , *STOP codons , *SYNDROMES , *NONSENSE mutation - Abstract
Dear Editor, Olmsted syndrome (OS) is a rare inherited disorder characterized by mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with varying degrees of itching and pain.[1] Diffuse alopecia or curly sparse hair is a common feature of OS.[1] Our research, and the work of others, has previously demonstrated that mutations in I TRPV3 i cause autosomal dominant, recessive and semidominant OS.[[2]] Mutations in I MBTPS2 i have also been reported to underlie X-linked recessive OS.[5] Very recently, Duchatelet I et al i .[6] reported a new autosomal dominant form of OS caused by mutations in the I PERP i gene. In conclusion, we report a severe case of OS caused by a heterozygous I PERP i mutation and confirm that mutations in the specific region of PERP protein is the third genetic cause of OS. [Extracted from the article]
- Published
- 2020
- Full Text
- View/download PDF