Incontinentia Pigmenti

Description

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

Clinical Features

Top most frequent phenotypes and symptoms related to Incontinentia Pigmenti

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Strabismus
  • Muscular hypotonia
  • Cataract
  • Spasticity
  • Cognitive impairment

And another 57 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available INCONTINENTIA PIGMENTI have a estimated birth prevalence of 1.2 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Incontinentia Pigmenti Is also known as bloch-siemens syndrome, bloch-sulzberger syndrome.

Researches and researchers

Doctors, researchs, and experts related to Incontinentia Pigmenti extracted from public data.

Incontinentia Pigmenti Experts map



Current Researchs and researchers

  • PARIS — Pr Christine BODEMER

    Coordinator of expert centre - Clinical expert - Investigator of research project - Manager of registry - Coordinator of expert centre network - Coordinator of research network

    • Institution/s:
      — Service de dermatologie, CHU Paris - Hôpital Necker-Enfants Malades
      — CHU Paris - Hôpital Necker-Enfants Malades
    • Research area/topic::

      GM: study group on Incontinentia pigmenti and anhidrotic ectodermal dysplasia - part of the Genodermatosis in Mediterranean network


  • SFAX — Pr Hamida TURKI

    Coordinator of research network

    • Institution/s:
      — EPS Hédi Chaker
    • Research area/topic::

      GM: study group on Incontinentia pigmenti and anhidrotic ectodermal dysplasia - part of the Genodermatosis in Mediterranean network



Mendelian

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Incontinentia Pigmenti Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Incontinentia Pigmenti Common Deletion Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IKBKG
Specificity
100 %
Genes
100 %
Incontinentia Pigmenti Common Deletion Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

IKBKG
Specificity
100 %
Genes
100 %
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID): IKBKG (NEMO) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

IKBKG
Specificity
100 %
Genes
100 %
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID): IKBKG (NEMO) (Known Mutation).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

IKBKG
Specificity
100 %
Genes
100 %
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SH2D1A, BTK, CD40, CD40LG, UNG, VAV1, AICDA, BLNK, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, ADA, LRRC8A, CR2, ICOS, IGHM , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
IKBKG (NEMO) Gene Sequencing (HED).

By GeneDx (United States).

IKBKG
Specificity
100 %
Genes
100 %
IKBKG (NEMO) Gene Sequencing (IP).

By GeneDx (United States).

IKBKG
Specificity
100 %
Genes
100 %
IKBKG. Chromosome X inactivation analysis.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

IKBKG
Specificity
100 %
Genes
100 %

We have 46 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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