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Incontinentia pigmenti
rareIncontinentia 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).
- Identifiers
- MONDO:0010631 OMIM:308300Orphanet:464
- Causal genes
- IKBKG
- Also known as
- Bloch-Siemens syndrome · Bloch-Sulzberger syndrome · Incontinentia pigmenti syndrome · Incontinentia pigmenti type 2 (formerly) · incontinentia pigmenti, X-linked dominant
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