A case of Incontinentia Pigmenti associated with concurrent IKBKG/NEMO and MED13L mutations - Takeaways - 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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  • 1

    Incontinentia Pigmenti (IP) is an X-linked disorder caused by mutations in the IKBKG/NEMO gene, leading to neuroectodermal abnormalities.

  • 2

    Syndromic intellectual disability (MRFACD) is an autosomal dominant condition caused by MED13L gene mutations, presenting with a range of neurological manifestations.

  • 3

    The study reports a female patient with both IP and MRFACD, revealing postzygotic mosaicism in IKBKG and a deleterious variant in MED13L.

  • 4

    The genetic combination observed in the patient is unique and highlights the need for comprehensive genomic investigations in complex cases.

  • 5

    Clinical diagnosis of IP is based on the progression of cutaneous lesions and can include neurological and ocular abnormalities.

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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