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, Sivakumar Natarajan, Vadlamudi R Rao, Vijay Zawar, Vykuntaraju K Gowda, Samiha S Shaikh, Celia Moss, Christopher G Woods, Ichrak Drissi
BACKGROUND: PRDM12 polyalanine tract expansions cause two different disorders; Midfacial Toddler Excoriation Syndrome (MiTES) - itch with normal pain sensation associated with homozygous 18 alanines (18A), and congenital insensitivity to pain (CIP) with normal itch with homozygous 19A. Knowledge of the phenotype, genotype, and disease mechanism of MiTES is incomplete. Why PRDM12 18A versus 19A can cause almost opposite phenotypes is unknown; no other poly-alanine or poly-glutamine tract expansion disease causes two such disparate phenotypes...
April 9, 2024: British Journal of Dermatology