Linked Life Data

17569396

Source:http://linkedlifedata.com/resource/pubmed/id/17569396

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2007-6-15
pubmed:abstractText
Incontinentia pigmenti (IP) is a rare inherited multisystem disorder characterized by a distinctive swirling pattern of the skin; defects of teeth, hair, and nails; and ophthalmic, central nervous system, and musculoskeletal abnormalities. It progresses through several well-defined stages. IP is transmitted as a dominant X-linked trait with variable expressivity, but many--if not most--cases are sporadic. IP has been shown to result from mutations in the NEMO gene that completely abolish expression of NF-kappaB essential modulator. The diagnosis of IP typically is made based on characteristic clinical findings. Molecular analysis of the NEMO gene is now possible, as is analysis of skewed X-chromosome inactivation, which can further reduce diagnostic confusion. A number of disorders, including hypomelanosis of Ito, should be considered in the differential diagnosis. The considerations vary according to the stage of IP. Careful head-to-toe clinical evaluation is critical in the evaluation of a child with suspected IP given the frequent multisystem involvement. A multidisciplinary approach including dermatology, ophthalmology, neurology, and dental consults is typically warranted. The skin manifestations of IP do not require specific treatment other than reassurance; spontaneous resolution of the lesions usually occurs.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0011-4162
pubmed:author
pubmed:issnType
Print
pubmed:volume
79
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
355-62
pubmed:dateRevised
2009-11-11
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder.
pubmed:affiliation
Dermatology and Pediatrics, UMDNJ-New Jersey Medical School, Newark 07103-2714, USA.
pubmed:publicationType
Journal Article, Review