A case of Incontinentia Pigmenti associated with concurrent IKBKG/NEMO and MED13L mutations - Report - MDSpire

A case of Incontinentia Pigmenti associated with concurrent IKBKG/NEMO and MED13L mutations

  • By

  • Ezia Spinosa

  • Jeremie Rosain

  • Stefania Picascia

  • Michele Salvia

  • Alessandra Pescatore

  • Annalaura Torella

  • Giulio Piluso

  • Vincenzo Nigro

  • Vincenzo Piccolo

  • Andrea Diociaiuti

  • Immacolata Di Biase

  • May El Hachem

  • Maria B. Lioi

  • Paul Bastard

  • Matilde V. Ursini

  • Francesca Fusco

  • June 18, 2026

  • 0 min

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Clinical Report: Incontinentia Pigmenti linked to IKBKG/NEMO and MED13L mutations

Overview

This report describes a unique case of a female patient with Incontinentia Pigmenti (IP) who also exhibits features of syndromic intellectual disability due to concurrent mutations in the IKBKG/NEMO and MED13L genes.

Background

Incontinentia Pigmenti (IP) is a rare X-linked disorder characterized by neuroectodermal abnormalities, while MED13L-related intellectual disability (MRFACD) is an autosomal dominant condition associated with a range of neurological manifestations.

Data Highlights

This study presents a case of a female infant with postzygotic mosaicism for the IKBKG gene deletion (NEMOdelta4_10) and a deleterious variant in the MED13L gene (c.1708_1709del).

Key Findings

  • The patient exhibited a complex phenotype combining features of both Incontinentia Pigmenti and syndromic intellectual disability.
  • Postzygotic mosaicism for the IKBKG gene deletion was identified in the patient.
  • A de novo deleterious variant in the MED13L gene was also detected.
  • IP is characterized by a range of clinical manifestations including skin, ocular, and neurological abnormalities.
  • MRFACD is associated with intellectual disability, hypotonia, and various congenital anomalies.

Clinical Implications

Clinicians should consider the possibility of multilocus genomic alterations in patients presenting with complex phenotypes. Comprehensive genetic testing may aid in the accurate diagnosis and management of such cases.

Conclusion

The concurrent presence of mutations in the IKBKG and MED13L genes in this patient emphasizes the need for thorough genetic evaluation in cases of complex clinical presentations.

Related Resources & Content

  1. Frontiers in Medicine, 2026 -- A case of Incontinentia Pigmenti associated with concurrent IKBKG/NEMO and MED13L mutations
  2. Incontinentia Pigmenti - GeneReviews® - NCBI Bookshelf
  3. DOI: 10.1111/jdv.16403
  4. Frontiers in Immunology — De novo NFKBIA variants within the N-terminal hotspot: consistent immunophenotype and divergent clinical presentations
  5. Frontiers in Pediatrics — Autoinflammation with Infantile Enterocolitis Induced by a Heterozygous Variant (c.1357C > T) in the NLRC4 Gene: A Case Report
  6. Frontiers in Medicine — Case Report: Successful treatment of dystrophic epidermolysis bullosa pruriginosa with upadacitinib in a patient with COL7A1, CARD14, and G6PD gene mutations
  7. Acta Neuropathologica — Neuropathological Insights into Neurocutaneous Melanosis: Histological Melanotic Neuronal and Glial Foci May Remain Invisible on MRI
  8. Incontinentia Pigmenti - GeneReviews® - NCBI Bookshelf
  9. DOI: 10.1111/jdv.16403
  10. Frontiers | A case of Incontinentia Pigmenti associated with concurrent IKBKG/NEMO and MED13L mutations

Original Source(s)

A case of Incontinentia Pigmenti associated with concurrent IKBKG/NEMO and MED13L mutations

  • by Ezia Spinosa, Jeremie Rosain, Stefania Picascia, Michele Salvia, Alessandra Pescatore, Annalaura Torella, Giulio Piluso, Vincenzo Nigro, Vincenzo Piccolo, Andrea Diociaiuti, Immacolata Di Biase, May El Hachem, Maria B. Lioi, Paul Bastard, Matilde V. Ursini, Francesca Fusco

  • June 18, 2026

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