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Start free with EleplanIncontinentia pigmenti
ORPHA:464Malformation syndrome
Also called Bloch-Siemens syndrome · Bloch-Sulzberger syndrome
What it is
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.
Key facts
- Prevalence
- 1-9 / 100 000 (at birth, Europe)
- Age of onset
- Neonatal
- Inheritance
- X-linked dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
5- Abnormality of skin pigmentation
- ErythemaDiagnostic criterion
- Pustular rashDiagnostic criterion
- Verrucous papuleDiagnostic criterion
- Vesicular eruptionDiagnostic criterion
Common30–79%
8- Abnormal dental morphology
- Alopecia
- Corneal opacity
- Delayed eruption of primary teeth
- Delayed eruption of teeth
- HypodontiaDiagnostic criterion
- Nail dystrophyDiagnostic criterion
- Seizure
Sometimes5–29%
31- Abnormal breast morphologyDiagnostic criterion
- Abnormal nipple morphologyDiagnostic criterion
- Alopecia of scalpDiagnostic criterion
- Cataract
- Cerebral cortical atrophy
- Cleft palateDiagnostic criterion
- Cognitive impairment
- Conical toothDiagnostic criterion
and 23 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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