Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with neonatal epidermolysis bullosa acquisita

Pediatric Dermatology
Sabina BisDaniel D Miller

Abstract

We report the case of a 2-week-old boy who presented with a vesiculopustular, bullous eruption in the setting of autoimmune enteropathy, hypothyroidism, membranous nephropathy, Coombs-positive hemolytic anemia, and persistent eosinophilia. Immunologic testing revealed a deficiency of FOXP3-expressing regulatory T cells, and a diagnosis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome was made. Histologic analysis, immunofluorescence, and enzyme-linked immunosorbent assay confirmed the bullous eruption as epidermolysis bullosa acquisita with associated collagen VII autoantibody production. The skin lesions responded to systemic immunosuppressant therapy and have regressed after allogeneic bone marrow transplantation.

References

Mar 8, 2000·American Journal of Medical Genetics·P J FergusonT E Kelly
Sep 18, 2008·The British Journal of Dermatology·M Halabi-TawilC Bodemer
May 15, 2012·Journal of Medical Genetics·Eva d'HennezelCiriaco Piccirillo

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Citations

Feb 27, 2016·Annals of the New York Academy of Sciences·Rosa BacchettaMaria-Grazia Roncarolo
Feb 1, 2019·Journal of the European Academy of Dermatology and Venereology : JEADV·A Welfringer-MorinC Bodemer
Aug 3, 2021·Pediatric Dermatology·Emma Hignett, Naveed Sami

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