Chronic ulcerating lesions on the face are rarely seen in toddlers. Blistering disease, vasculitis, infections and self-mutilation due to neurometabolic disease can usually be excluded on clinical and histological grounds. In the absence of identifiable disease, such lesions are sometimes attributed to child abuse or fabricated illness. We describe three toddlers with chronic mid-face erosions, two from India and one from the UK. One had moderate developmental delay and one had had seizures. The lesions appeared to be self-inflicted, no underlying disease was identified and there was no suspicion of child abuse. Recognition of the same disease pattern in different continents implies a distinct pathological entity. The pattern closely resembles that seen in some patients with mutations in the pain-insensitivity genes PRDM12 and SCN11A. We suggest the term 'mid-face toddler excoriation syndrome' (MiTES) to acknowledge the existence of this condition, encourage further reports and help clarify the pathogenesis.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1111/ced.12997 | DOI Listing |
Int J Dermatol
December 2024
Department of Pediatric Dermatology, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, "Aghia Sofia" Children's Hospital, Athens, Greece.
Br J Dermatol
August 2024
Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
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.
View Article and Find Full Text PDFIndian J Anaesth
November 2023
Department of Anaesthesia, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
Pediatr Dermatol
January 2024
Department of Dermatology, University Hospital Angers, Angers, France.
An 18-month-old child presented with persistent pruritus and excoriation involving the right T9 and T10 dermatomes. She did not exhibit any other dermatological or neurological anomalies. Based on magnetic resonance imaging investigation of the spine, T8 ganglioglioma was diagnosed and surgically removed resulting in resolution of the pruritus within a few days.
View Article and Find Full Text PDFIndian J Dermatol Venereol Leprol
January 2022
Department of Dermatology, KPC Medical College and Hospital, Kolkata, West Bengal, India.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!