Incontinentia Pigmenti with a Foreshortened Hand: Evidence for the Significance of NFκB in Human Morphogenesis
| Autor: | Gene E. Burges, Gurpur Shashidhar Pai, Emily C. Kmetz |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Biopsy Morphogenesis Dermatology Humans Medicine In patient Incontinentia Pigmenti skin and connective tissue diseases Transcription factor Chromosomes Human X business.industry Infant Newborn NF-kappa B Gene Expression Regulation Developmental Dermis Incontinentia pigmenti Hand medicine.disease Phenotype Hedgehog signaling pathway Limb deformity Erythema Pediatrics Perinatology and Child Health Female sense organs business Hand Deformities Congenital Neuroscience Limb morphogenesis Signal Transduction |
| Zdroj: | Pediatric Dermatology. 26:83-86 |
| ISSN: | 1525-1470 0736-8046 |
| DOI: | 10.1111/j.1525-1470.2008.00829.x |
| Popis: | The X-linked disorder incontinentia pigmenti (IP) with its well-defined underlying defect in the NFkappaB essential modulator (NEMO) gene and its variability in patients' phenotypes offers an excellent opportunity for expanding knowledge of the function of the NFkappaB 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 NFkappaB 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. |
| Databáze: | OpenAIRE |
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