RESUMO
No abstract available.
RESUMO
Incontinentia pigmenti (IP) is an uncommon X-linked, dominantly inherited disorder due to a mutation in the NEMO (NF-kappaB essential modulator) gene on the X chromosome. IP mostly occurs in female infants, it is usually embryonic lethal in males. The mechanisms for survival of affected males are explained by the presence of an extra X chromosome (Klinefelter's syndrome), hypomorphic mutations, and somatic mosaicism. We report here a rare case of incontinentia pigmenti in a 13-year-old boy with Klinefelter's syndrome, NEMO gene mutation, and whorled, hyperkeratotic, hyperpigmented, linear lesions along the lines of Blaschko on the trunk and leg.
Assuntos
Adolescente , Feminino , Humanos , Lactente , Masculino , Incontinência Pigmentar , Síndrome de Klinefelter , Perna (Membro) , Mosaicismo , Cromossomo XRESUMO
Pseudomonas infections can occur from inadequate chemical treatment of water, prolonged exposure to the water source and excessive numbers of bathers in the pool or hot tub. Therefore, pseudomonas folliculitis is also called 'hot tub folliculitis'. We report a 3-year-old boy with Pseudomonas aeruginosa folliculitis suggestively caused by water from the bathing tub of a Hotel. According to the sanitary code of the United States of America, pool staff should regularly check both chlorine and pH levels to prevent swimmers from recreational water infection. However, in Korea, there is no definite regulation regarding chlorine or pH level of recreational water. Thus, we report this issue with a review of the literature.