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incontinentia pigmenti

Tuesday 18 November 2003

Incontinentia pigmenti is an uncommon X-linked dominant disorder, lethal in the majority of affected males in utero and variably expressed in females.


- Cutaneous manifestations

  • 4 stages: vesicular, verrucous, hyperpigmented, and atrophic

- hair anomalies
- nail anomalies
- dental anomalies
- ophthalmologic anomalies
- neurologic deficits


- mutations in the NEMO/IKKgamma gene located at Xq28

  • NEMO/IKKgamma is an essential component of the nuclear factor kappaB (NF-kappaB) signaling pathway.


- Smahi A, Courtois G, Rabia SH, Doffinger R, Bodemer C, Munnich A, Casanova JL, Israel A. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet. 2002 Oct 1;11(20):2371-5. PMID: 12351572

- Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol. 2002 Aug;47(2):169-87. PMID: 12140463

- Shastry BS. Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome). J Hum Genet. 2000;45(6):323-6. PMID: 11185738