biostudies-literatureUnknown191(3)Sarveswaran NMRC CASE studentship with AstraZenecaMinistry of Finance of Republic of IndonesiaNational Institute for Health Research (NIHR)National Institute for Health and Care ResearchIndonesian Endowment Fund for EducationWellcome TrustCambridge Biomedical Research Centre<h4>Background</h4>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 can cause almost opposite phenotypes is unknown; no other polyalanine or polyglutamine tract expansion disease causes two such disparate phenotypes.<h4>Objectives</h4>To assess the genotype and phenotype of nine new, nine atypical and six previously reported patients diagnosed with MiTES.<h4>Methods</h4>Using cell lines with homozygous PR domain zinc finger protein 12 (PRDM1The British journal of dermatology437-446https://www.ebi.ac.uk/biostudies/studies/S-EPMC11324070biostudies-literatureMidfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.PMC11324070Sarveswaran NShaikh SSZawar VWoods CGPamela YBishnoi ABrowne FRao VRGowda VKOlabi BMoss CParthasarathi AMustari APMancini AJMcWilliam KIbbs SReddy AANDrissi IInamadar ACSrinivas SNatarajan SVinay KDeshmukh GNfalseMidfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.<h4>Background</h4>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 can cause almost opposite phenotypes is unknown; no other polyalanine or polyglutamine tract expansion disease causes two such disparate phenotypes.<h4>Objectives</h4>To assess the genotype and phenotype of nine new, nine atypical and six previously reported patients diagnosed with MiTES.<h4>Methods</h4>Using cell lines with homozygous PR domain zinc finger protein 12 (PRDM12024-01-01T00:00:00Z2024 Aug2025-04-21T22:09:55.254Z2025-04-05T18:38:41.45ZS-EPMC113240703859149010.1093/bjd/ljae151