Midfacial Toddler Excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism

CONCLUSION: We provide diagnostic criteria for MiTES, and improved longitudinal data. MiTES and CIP are distinct phenotypes despite their genotypes varying by a single alanine in the PRDM12 polyalanine tract. We found clear distinctions between the cellular phenotypes of normal, MiTES and CIP cells.. We hypothesise that the developmental environment of the trigeminal ganglion is unique and critically sensitive to prenatal and postnatal levels of PRDM12.PMID:38591490 | DOI:10.1093/bjd/ljae151

Source: The British Journal of Dermatology - April 9, 2024 Category: Dermatology Authors: Nivedita Sarveswaran Yunisa Pamela Akhila A N Reddy Akash P Mustari Anchala Parthasarathi Anthony J Mancini Anuradha Bishnoi Arun C Inamadar Bayanne Olabi Fiona Browne Gargi N Deshmukh Kenneth McWilliam Keshavamurthy Vinay Sahana Srinivas Samantha Ibbs Si Source Type: research