| Incontinentia pigmenti | |
|---|---|
| Other names | Bloch–Siemens syndrome, Bloch–Sulzberger disease, Bloch–Sulzberger syndrome, nelanoblastosis cutis, nevus pigmentosus systematicus[1] |
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| This condition is inherited in an X-linked dominant manner. | |
| Specialty | Medical genetics  |
Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system. It is named from its appearance under a microscope.[1]
The disease is characterized by skin abnormalities that begin in childhood, usually a blistering rash which heals, followed by the development of harder skin growths. The skin may develop grey or brown patches which fade with time. Other symptoms can include hair loss, dental abnormalities, eye abnormalities that can lead to vision loss and lined or pitted fingernails and toenails. Associated problems can include delayed development, intellectual disability, seizures and other neurological problems. Most males with the disease do not survive to childbirth.
Incontinentia pigmenti is caused by a mutation in the IKBKG gene, which encodes the NEMO protein, which serves to protect cells against TNF-alpha-induced apoptosis. A lack of IKBKG therefore makes cells more prone to apoptosis.
There is no specific treatment; individual conditions must be managed by specialists.[2]
- ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.[page needed]
- ^ Sulzberger, Marion B (1928). "Über eine bisher nicht beschriebene congenitale Pigmentanomalie" [About a previously udescribed congenital pigment anomaly]. Archiv für Dermatologie und Syphilis (in German). 154: 19–32. doi:10.1007/bf01828398. S2CID 40446256.