Article
Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.
The British journal of dermatology - 14 Aug 2024
Sarveswaran Nivedita, Pamela Yunisa, Reddy Akhila A N, Mustari Akash P, Parthasarathi Anchala, Mancini Anthony J, Bishnoi Anuradha, Inamadar Arun C, Olabi Bayanne, Browne Fiona, Deshmukh Gargi N, McWilliam Kenneth, Vinay Keshavamurthy, Srinivas Sahana, Ibbs Samantha, Natarajan Sivakumar, Rao Vadlamudi R, Zawar Vijay, Gowda Vykuntaraju K, Shaikh Samiha S, Moss Celia, Woods Christopher G, Drissi Ichrak
Abstract excerpt
BACKGROUND: PRDM12 polyalanine tract expansions cause two different disorders: midfacial toddler excoriation syndrome (MiTES; itch with normal pain sensation associated with 18 homozygous alanines (18A); and congenital insensitivity to pain (CIP) with normal itch associated with 19 homozygous alanines (19A). Knowledge of the phenotype, genotype and disease mechanism of MiTES is incomplete. Why 18A vs. 19A PRDM12...
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