Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males.
Mutations in the IKBKG gene cause incontinentia pigmenti. The IKBKG gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that helps protect cells from self-destructing (undergoing apoptosis) in response to certain signals.
Incontinentia pigmenti is an uncommon disorder. Between 900 and 1,200 affected individuals have been reported in the scientific literature. Most of these individuals are female, but several dozen males with incontinentia pigmenti have also been identified.
This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of IKBKG protein and other cells produce none. The resulting imbalance in cells producing this protein leads to the signs and symptoms of incontinentia pigmenti.
Alessandra Pescatore practices in Naples, Italy. Pescatore is rated as an Elite expert by MediFind in the treatment of Incontinentia Pigmenti. She is also highly rated in 1 other condition, according to our data. Her top areas of expertise are Incontinentia Pigmenti, Clouston Syndrome, Ectodermal Dysplasias, and Aplasia Cutis Congenita.
Michihiro Kono practices in Obihiro, Japan. Kono is rated as an Elite expert by MediFind in the treatment of Incontinentia Pigmenti. They are also highly rated in 33 other conditions, according to our data. Their top areas of expertise are Dyschromatosis Symmetrica Hereditaria, Pigmented Purpuric Dermatosis, Incontinentia Pigmenti, Benign Chronic Pemphigus, and Kidney Transplant.
Francesca Fusco practices in Naples, Italy. Fusco is rated as an Elite expert by MediFind in the treatment of Incontinentia Pigmenti. She is also highly rated in 4 other conditions, according to our data. Her top areas of expertise are Incontinentia Pigmenti, Ectodermal Dysplasias, Clouston Syndrome, and Aplasia Cutis Congenita.
Summary: This study is designed to evaluate the efficacy of AMG 714 for the treatment of adult participants with vitiligo.
Summary: The etiology of pulmonary fibrosis is unknown. Analyses of blood, genomic DNA, and specimens procured by bronchoscopy, lung biopsy, lung transplantation, clinically-indicated extra-pulmonary biopsies, or post-mortem examination from individuals with this disorder may contribute to our understanding of the pathogenic mechanisms of pulmonary fibrosis. The purpose of this protocol is to procure and a...
Published Date: June 01, 2008Published By: National Institutes of Health