ORPHA:464
Incontinentia pigmenti
Synonyms: Bloch-Siemens syndrome · Bloch-Sulzberger syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Neonatal
- Status
- active
An X-linked syndromic muti-systemic ectodermal dysplasia presenting neonatally in females with a bullous rash along Blaschko's lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and can affect the retinal and the central nervous system (CNS) microvasculature. It may have other aspects of ectodermal dysplasia such as sweat gland abnormalities. Germline pathogenic variants in males result in embryonic lethality.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Incontinentia pigmenti | Bloch-Siemens syndrome · Bloch-Sulzberger syndrome |
| fr | Incontinentia pigmenti | Syndrome de Bloch-Siemens · Syndrome de Bloch-Sulzberger |
| de | Incontinentia pigmenti | Bloch-Siemens-Syndrom · Bloch-Sulzberger-Syndrom |
| es | Incontinencia pigmentaria | Síndrome de Bloch-Siemens · Síndrome de Bloch-Sulzberger |
| it | Incontinentia pigmenti | Sindrome di Bloch-Siemens · Sindrome di Bloch-Sulzberger |
| nl | Incontinentia pigmenti | Syndroom van Bloch-Siemens · Syndroom van Bloch-Sulzberger |
| pt | Incontinência pigmentar | Síndrome Bloch-Sulzberger |
| pl | Nietrzymanie barwnika | Zespół Blocha i Simonsa · Zespół Blocha i Sulzbergera |
| cs | Incontinentia pigmenti | Blochův-Siemensův syndrom · Blochův-Sulzbergerův syndrom · Bloch-Siemensův syndrom · Bloch-Sulzbergerův syndrom |
| uk | Нетримання пігменту | Синдром Блоха-Сіменса · Синдром Блоха-Сульцбергера |
| zh | 色素失调症 | Bloch-Sulzberger综合征 |
| tr | İnkontinensiya pigmenti | Bloch-Siemens sendromu · Bloch-Sulzberger sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 308300 | E | validated | |
| ICD-10 | Q82.3 | E | specific | validated |
| ICD-11 | LD27.00 | E | specific | validated |
| MONDO | 0010631 | E | validated | |
| MeSH | D007184 | E | validated | |
| UMLS | C0021171 | E | validated | |
| GARD | 6778 | E | validated | |
| MedDRA | 10077624 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:166466Neurocutaneous syndrome with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases - ORPHA:716459Rare disorder with progressive retinal vasculopathy as a major feature
rare ophthalmic disorders - ORPHA:717348Rare genetic disorder with progressive retinal vasculopathy as a major feature
rare genetic diseases - ORPHA:717868Rare skin disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IKBKG | Disease-causing germline mutation(s) in | Assessed | HGNC:5961 | ENSG00000269335 | 300248 | Xq28 | inhibitor of nuclear factor kappa B kinase regulatory subunit gamma | 20301645[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.62 / 100 000 | United States | Value and class | Validated | [EXPERT]_Texas Birth Defect OTHERistry[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.2 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
44 annotations · validated 2026-06-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0010783 | Erythema | Diagnostic criterion |
| HP:0033605 | Pustular rash | Diagnostic criterion |
| HP:0012500 | Verrucous papule | Diagnostic criterion |
| HP:0033697 | Vesicular eruption | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0001596 | Alopecia | |
| HP:0007957 | Corneal opacity | |
| HP:0000680 | Delayed eruption of primary teeth | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000668 | Hypodontia | Diagnostic criterion |
| HP:0008404 | Nail dystrophy | Diagnostic criterion |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0031093 | Abnormal breast morphology | Diagnostic criterion |
| HP:0004404 | Abnormal nipple morphology | Diagnostic criterion |
| HP:0002293 | Alopecia of scalp | Diagnostic criterion |
| HP:0000518 | Cataract | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000175 | Cleft palate | Diagnostic criterion |
| HP:0100543 | Cognitive impairment | |
| HP:0000698 | Conical tooth | Diagnostic criterion |
| HP:0000696 | Delayed eruption of permanent teeth | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0011079 | Impacted tooth | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0000691 | Microdontia | Diagnostic criterion |
| HP:0000568 | Microphthalmia | |
| HP:0001805 | Onychogryphosis | Diagnostic criterion |
| HP:0000202 | Orofacial cleft | |
| HP:0006970 | Periventricular leukomalacia | |
| HP:0000541 | Retinal detachment | Diagnostic criterion |
| HP:0030666 | Retinal neovascularization | Diagnostic criterion |
| HP:0001807 | Ridged nail | Diagnostic criterion |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0001257 | Spasticity | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| HP:0002558 | Supernumerary nipple | Diagnostic criterion |
| HP:0000505 | Visual impairment | |
| HP:0002224 | Woolly hair | Diagnostic criterion |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20301645[PMID]_39389657[PMID]_30660327[PMID]_32678511[PMID]_24961275[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/464
- This record as JSON: /data/d/464.json