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When Neurodevelopment Meets Autoimmunity: Pemphigus Foliaceus in Rett Syndrome Expands the Clinical Spectrum-A Case
Jatinder Singh1,2, Samiya Chishti1,2, Shashidhar Ameenpur1,2
1Department of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.
International Journal of Molecular Sciences
|August 13, 2026
Summary
This case study reports the first instance of pemphigus foliaceus, an autoimmune blistering disease, in a patient with Rett syndrome (RTT). The co-occurrence highlights complex clinical presentations and the need for vigilance in RTT patients.
Area of Science:
- Neuroscience
- Immunology
- Genetics
Background:
- Rett syndrome (RTT) is a neurodevelopmental disorder with suspected autoimmune involvement, though autoimmune manifestations are poorly understood.
- Pemphigus foliaceus is a severe autoimmune blistering disease targeting desmoglein-1 (Dsg1).
