Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2006-4-10
pubmed:abstractText
Solitary café-au-lait spots are quite common in the general population but multiple café-au-lait macules (CALM) are often indicative of an underlying genetic disorder. The frequency of having more than five CALM is rare in normal individuals and is therefore considered as a cut-off for the diagnosis of neurofibromatosis type 1 (NF1). The etiopathogenesis of these macules is still very obscure. In this study we compared epidermal melanocyte and dermal mast cell numbers between four groups: control normal and control CALM skin, and NF1 normal and NF1 CALM skin and elaborated a possible role for stem cell factor (SCF) in CALM formation. The groups were analyzed by immunohistochemistry for numerical analysis of the melanocyte and mast cell population and by ELISA, western blot analysis and real-time quantitative PCR for further determination of the role of SCF. We found a significant increase in melanocyte density in NF1 CALM skin compared with the isolated CALM in control individuals. However, both groups displayed a similar increase in mast cell density. In addition, we found increased levels of soluble SCF in NF1 CALM and in NF1 normal fibroblast supernatant. We conclude that SCF is an important cytokine in NF1 skin, but that additional (growth) factors and/or genetic mechanisms are needed to induce NF1-specific CALM hyperpigmentation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0340-3696
pubmed:author
pubmed:issnType
Print
pubmed:volume
297
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
439-49
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:16479403-Adolescent, pubmed-meshheading:16479403-Adult, pubmed-meshheading:16479403-Cafe-au-Lait Spots, pubmed-meshheading:16479403-Cell Count, pubmed-meshheading:16479403-Cells, Cultured, pubmed-meshheading:16479403-Child, pubmed-meshheading:16479403-Female, pubmed-meshheading:16479403-Gene Expression Regulation, pubmed-meshheading:16479403-Humans, pubmed-meshheading:16479403-Hyperpigmentation, pubmed-meshheading:16479403-Male, pubmed-meshheading:16479403-Mast Cells, pubmed-meshheading:16479403-Melanocytes, pubmed-meshheading:16479403-Middle Aged, pubmed-meshheading:16479403-Neurofibromatosis 1, pubmed-meshheading:16479403-Proto-Oncogene Proteins c-kit, pubmed-meshheading:16479403-RNA, Messenger, pubmed-meshheading:16479403-Skin, pubmed-meshheading:16479403-Stem Cell Factor
pubmed:year
2006
pubmed:articleTitle
Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind?
pubmed:affiliation
Department of Dermatology, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't