A case of Incontinentia Pigmenti associated with concurrent IKBKG/NEMO and MED13L mutations - Scorecard - 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 Scorecard: A report on Incontinentia Pigmenti linked to simultaneous IKBKG/NEMO and MED13L gene mutations

At a Glance

CategoryDetail
Condition
Key Mechanisms
Target PopulationFemales with Incontinentia Pigmenti and intellectual disability.
Care Setting

Key Highlights

  • Incontinentia Pigmenti is characterized by skin and neuroectodermal abnormalities.
  • MRFACD presents with a range of neurologic manifestations including intellectual disability.
  • The case study reports a combination of IKBKG and MED13L mutations.
  • Clinical diagnosis of IP is based on the progression of cutaneous lesions.
  • Comprehensive genomic investigation is crucial for complex clinical presentations.

Guideline-Based Recommendations

Diagnosis

  • Clinical diagnosis of Incontinentia Pigmenti at birth based on cutaneous lesions.

Management

  • Consider multilocus genomic alterations in complex cases.

Monitoring & Follow-up

  • Monitor for neurological and ophthalmological abnormalities.

Risks

  • Increased risk of severe viral infections in women with IP due to autoantibodies.

Patient & Prescribing Data

Genetic counseling and multidisciplinary management are important.

Clinical Best Practices

  • Utilize comprehensive genomic testing for accurate diagnosis.
  • Implement regular follow-ups for developmental and neurological assessments.

Related Resources & Content

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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