incontinentia pigmenti
Findings
No curated finding names incontinentia pigmenti yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0010631), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
47 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- 10 of 11 reported patients
- Abnormal skin pigmentationHPOHP:0001000
- Very frequent (80% to 99% of cases)
- ErythemaHPOHP:0010783
- Very frequent (80% to 99% of cases)
- Pustular rashHPOHP:0033605
- Very frequent (80% to 99% of cases)
- Verrucous papuleHPOHP:0012500
- Very frequent (80% to 99% of cases)
- Vesicular eruptionHPOHP:0033697
- Very frequent (80% to 99% of cases)
- Abnormal dental morphology
Show the remaining 35
- Nail dystrophyHPOHP:0008404
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- 3 of 11 reported patients
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- 6 of 11 reported patients
- Occasional (5% to 29% of cases)
- Abnormal breast morphologyHPOHP:0031093
- Occasional (5% to 29% of cases)
- Abnormal nipple morphologyHPOHP:0004404
- Occasional (5% to 29% of cases)
- Alopecia of scalpHPOHP:0002293
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IKBKGHGNC:5961
- Definitive · ClinGen · X-linked · 2022
- Definitive · G2P · X-linked · 2019
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · Genomics England PanelApp · X-linked · 2020
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
4 names
Resolves to: incontinentia pigmenti
- Also called
- Bloch-Siemens syndromeBloch-Sulzberger syndromeIncontinentia pigmenti syndromeincontinentia pigmenti, X-linked dominant