Information,Incontinentia,Pigm health Information on Incontinentia Pigmenti
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Incontinentia pigmenti (IP) is caused by mutations in the NEMO/IKK-gamma gene, which is sited on chromosome Xq28. NEMO/IKK-gamma is the rigid subunit of the inhibitor kappa kinase (IKK) complex and is necessary for the activation of the transcription factor NF-kappaB (NF-kB). NF-kB is central to many immune, inflammatory, and apoptotic pathways. This condition occurs much more often in females than in males. Incontinentia pigmenti is characterized by skin abnormalities that evolve throughout childhood and young adulthood.Several affected Childs have a blistering rash at birth and in early childhood, which heals and is followed by the development of wart-like skin growths. In early childhood, the skin develops grey or brown patches that happen in a swirled pattern. These patches fade with time, and adults with incontinentia color usually have lines of unusually light-colored skin on their arms and legs. Other signs and symptoms of incontinentia pigmenti can comprise hair loss affecting the scalp and other parts of the body, dental abnormalities (such as small teeth or few teeth), eye abnormalities that can lead to vision loss, and lined or pitted fingernails and toenails. About 20% of children with IP will have slow motor development, muscle weakness in one or both sides of the body, mental retardation, and seizures. Most people with incontinentia pigmenti have normal intelligence; however, this condition may affect the brain. Treatment is aimed at the individual symptoms. The treatment for babies with incontinentia pigmenti should be focused on the potential for the rapid development of irreversible blindness rather than on the obvious skin changes. Retinal detachment or bleeding, laser or other surgical procedures can be performed to prevent visual loss. The main goal is to prevent bacterial infection of skin lesions and to monitor closely the development of related problems. This should include regular dental care and close monitoring by an ophthalmologist for the first few years of life. General dentists can provide regular dental care, screening for dental complications, and restorative dental care. Neurological symptoms such as seizures, muscle spasms, or mild paralysis may be controlled with medication and/or medical devices and with the advice of a neurologist. Genetic counseling may be helpful for persons with a family history of IP who are considering having children.
Information,Incontinentia,Pigm