Incontinentia pigmenti is a rare X-linked genodermatosis. It is a multisystem disorder that is characterised by involvement of the skin, teeth, eyes, and central nervous system. It is a type of ectodermal dysplasia related to abnormalities of the NF-kappaB pathway.
The website Therapeutics in Dermatology gives access to physicians to a complete definition of the disease, information on clinical presentation, a description of the clinical findings, histology and laboratory studies that determine diagnosis, information on differential diagnosis and management.
In an article Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations published in 2011, the Centre National de Référence des Maladies Génétiques à Expression Cutanée assess the IP manifestations in adults to clarify diagnostic criteria for mild forms of the disease, to help physicians detect adult IP in the presence of subtle lesions and avoid misdiagnosis.
The website Geneskin contains a list of clinical centers, clinical trials and a directory of patient associations.
The website Orphanet offers a directory of expert centers, diagnostic tests, associations directory. It also offers lists of research projects, clinical trials, databases and networks.
Associations help patients and their families to cope with the disease.
Incontinentia Pigmenti International Foundation based in the US focus on supporting research and help patients and their families. It also gives information about the disease in many languages (English, German, Spanish, French, Italian, Portuguese).
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