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Incontinentia Pigmenti with a Foreshortened Hand: Evidence for the Significance of NFκB in Human Morphogenesis
Author(s) -
Kmetz Emily C.,
Shashidhar Pai Gurpur,
Burges Gene E.
Publication year - 2009
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2008.00829.x
Subject(s) - incontinentia pigmenti , gli3 , morphogenesis , phenotype , sonic hedgehog , medicine , hedgehog signaling pathway , transcription factor , genetics , gene , biology , microbiology and biotechnology , pathology , repressor
The X‐linked disorder incontinentia pigmenti (IP) with its well‐defined underlying defect in the NFκB essential modulator (NEMO) gene and its variability in patients' phenotypes offers an excellent opportunity for expanding knowledge of the function of the NFκB pathway. We report a patient with the classic clinical and histologic characteristics of incontinentia pigmenti in the skin accompanied by foreshortening of the left hand. The occurrence of this limb deformity associated with a reduced expression of NFκB confirms the importance of this transcription factor in normal limb morphogenesis and may support its involvement in sonic hedgehog signaling. Further studies in established animal models may help to further define these roles.