A case of mid-face toddler excoriation syndrome (MiTES).
autonomic neuropathy
excoriations
facial
genetic
polyalanine repeat
sensory neuropathy
toddler
Journal
Pediatric dermatology
ISSN: 1525-1470
Titre abrégé: Pediatr Dermatol
Pays: United States
ID NLM: 8406799
Informations de publication
Date de publication:
Mar 2020
Mar 2020
Historique:
pubmed:
14
1
2020
medline:
2
2
2021
entrez:
14
1
2020
Statut:
ppublish
Résumé
The term mid-face toddler excoriation syndrome (MiTES) has been proposed to describe a rare condition that arises in infancy as is characterized by self-inflicted excoriations. It is considered to be a milder variant of hereditary sensory-autonomic neuropathy (HSAN) type VIII. We present an 8-year-old boy with lesions on the mid-face that were admittedly self-induced and associated with an abnormally high pain threshold. The diagnosis and management of MiTES is reviewed.
Substances chimiques
Carrier Proteins
0
Nerve Tissue Proteins
0
Prdm12 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
345-346Informations de copyright
© 2020 Wiley Periodicals, Inc.
Références
Chen Y-C, Auer-Grumbach M, Matsukawa S, et al. Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet. 2015;47:803-808.
Elhennawy K, Reda S, Finke C, Graul-Neumann L, Jost-Brinkmann P-G, Bartzela T. Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature. J Med Case Rep. 2017;11:233.
Srinivas SM, Gowda VK, Owen CM, Moss C, Hiremagalore R. Mid-face toddler excoriation syndrome (MiTES): a new paediatric diagnosis. Clin Exp Dermatol. 2017;42:68-71.
Moss C, Srinivas SM, Sarveswaran N, et al. Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12. Br J Dermatol. 2018;179:1135-1140.