Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.

ABSTRACT:

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 can cause almost opposite phenotypes is unknown; no other polyalanine or polyglutamine tract expansion disease causes two such disparate phenotypes.

Objectives

To assess the genotype and phenotype of nine new, nine atypical and six previously reported patients diagnosed with MiTES.

Methods

Using cell lines with homozygous PR domain zinc finger protein 12 (PRDM1

SUBMITTER: Sarveswaran N 

PROVIDER: S-EPMC11324070 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature