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Mid-face toddler excoriation syndrome (MiTES): a new paediatric diagnosis
S M Srinivas1, V K Gowda2, C M Owen3
1Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
Insights
Chronic facial lesions in toddlers may indicate a new condition, mid-face toddler excoriation syndrome (MiTES). This self-inflicted pattern, seen globally, suggests a potential link to pain insensitivity gene mutations.
Area of Science:
- Pediatric Dermatology
- Genetics
- Rare Diseases
Background:
- Chronic ulcerating facial lesions are uncommon in toddlers.
- Differential diagnoses include blistering diseases, vasculitis, infections, neurometabolic disorders, and child abuse.
- When no underlying cause is found, lesions may be misattributed.
Observation:
- Three toddlers (India, UK) presented with chronic mid-face erosions.
- Lesions appeared self-inflicted; no abuse or specific disease was identified.
- Two toddlers had developmental delay and seizures, respectively.
Findings:
- A distinct pathological entity is suggested by the consistent pattern across continents.
- The presentation resembles conditions associated with mutations in pain-insensitivity genes PRDM12 and SCN11A.
- The proposed term is 'mid-face toddler excoriation syndrome' (MiTES).
Implications:
- MiTES may represent a novel genetic or neurological condition.
- Recognition of MiTES can prevent misdiagnosis and inappropriate interventions.
- Further research is needed to clarify pathogenesis and genetic links.
Abstract:
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.
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