"Incontinentia pigmenti is rare and the true prevalence is unknown. Approximately 1000 cases have been reported in the literature 4. There is a female:male sex ratio of 20–37:1 6."
"The syndrome was described in 1928 by Marion Sulzberger (1895–1983), an American dermatologist."
"vesicles and linear inflammatory blistering occurring at birth or during the first two months of life."
"hyperkeratotic, verrucous, linear plaques that may last months."
"brown or greyish-blue hyperpigmentation, distributed in Blaschko's lines (lines of normal cell development in the skin) or in swirling patterns that appear in infancy and fade slowly until they disappear in adulthood."
"hypopigmented linear macules on the trunk and limbs usually observed in adulthood."
"When it occurs in males it is usually lethal; however, cases have been reported in male patients with Klinefelter syndrome or with a mosaic karyotype for this syndrome (post-zygotic mutations) 1-2."
"When it occurs in males it is usually lethal; however, cases have been reported in male patients with Klinefelter syndrome or with a mosaic karyotype for this syndrome (post-zygotic mutations) 1-2."
"This condition is related to mutations in NF-kappa B essential modulator (NEMO) gene of the kappa B genetic factor, located in the long arm of the Xq28 chromosome 6. This gene codifies proteins that help protect cells from apoptosis in response to certain signals."
"This condition is related to mutations in NF-kappa B essential modulator (NEMO) gene of the kappa B genetic factor, located in the long arm of the Xq28 chromosome 6. This gene codifies proteins that help protect cells from apoptosis in response to certain signals."
"The syndrome was first described by Garrod A.E. et al. in 1906."
Expected headings
"CNS"
"Head and face"
"Musculoskeletal"
"Incontinentia pigmenti is rare and the true prevalence is unknown. Approximately 1000 cases have been reported in the literature 4. There is a female:male sex ratio of 20–37:1 6."
"There are four classic cutaneous phases that may be concomitant or sequential 1:"
"There is no specific treatment. The skin lesions generally regress spontaneously and all the treatment is based on symptomatology."
"When it occurs in males it is usually lethal; however, cases have been reported in male patients with Klinefelter syndrome or with a mosaic karyotype for this syndrome (post-zygotic mutations) 1-2."
"History and etymology"