Diagnostic value of the skin lesions in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
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Updated: May 12, 2026

Skin Biopsy for Diagnosing Discoid Lupus Erythematosus
Published on: June 10, 2025
Ana Martín-Santiago1, Juan A Hervás, Daniel Hervás
1Department of Dermatology, Son Espases University Hospital, Palma de Mallorca, Spain.
Abstract:
We report a child with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome due to a de novo c.1190G>A (p.R397Q) mutation in exon 11 of the forkhead domain of the FOXP3 gene. He had chronic dermatitis with an eczematous and ichthyosiform appearance and had an allogeneic bone marrow transplantation. IPEX syndrome is a rare, often fatal recessive disease caused by mutations in the FOXP3 gene on the X chromosome (Xp11.23-q13.3).
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