Incontinentia Pigmenti.

07:00 EST 16th January 2019 | BioPortfolio

Summary of "Incontinentia Pigmenti."

Incontinentia pigmenti (Bloch-Sulzberger syndrome) is a rare neuroectodermal dysplasia. It is an X-linked dominant disorder caused by mutations in the IKBKG/NEMO gene on Xq28. Approximately 80% of patients have a deletion of exons 4 to 10. Incontinentia pigmenti has an estimated incidence of 0.7 cases per 100,000 births. In hemizygous males, it is usually lethal, while in females, it has a wide spectrum of clinical manifestations. Incontinentia pigmenti is a multisystemic disease that invariably features skin changes. These changes are the main diagnostic criteria and they evolve in 4 stages, in association with other abnormalities affecting the central nervous system, eyes, teeth, mammary glands, hair, nails, skin, and other parts of the body. The aim of this brief review is to highlight the clinical features of this genodermatosis and underline the importance of case-by-case interdisciplinary management, including genetic counseling.


Journal Details

This article was published in the following journal.

Name: Actas dermo-sifiliograficas
ISSN: 1578-2190


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PubMed Articles [4 Associated PubMed Articles listed on BioPortfolio]

EXPRESS: A case of reversible pulmonary arterial hypertension associated with incontinentia pigmenti.

Successful Hair Transplantation for Scarring Alopecia Associated With Incontinentia Pigmenti.

Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study.

NF-κB essential modulator (NEMO), encoded by IKBKG, is necessary for activation of the ubiquitous transcription factor nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB). Animal ...

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

X-linked dominant incontinentia pigmenti (IP) and X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) are caused by loss-of-function and hypomorphic NEMO mutations, respe...

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Medical and Biotech [MESH] Definitions

A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages.

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