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]
^ abRapini, 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.
and 23 Related for: Incontinentia pigmenti information
Incontinentiapigmenti (IP) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system. It is named...
Incontinentiapigmenti achromians (also known as "hypomelanosis of Ito") is a cutaneous condition characterized by various patterns of bilateral or unilateral...
bullying, due to her gawkiness and health problems. She suffered from incontinentiapigmenti, a genetic disorder which scarred her skin, caused her hair to fall...
females. Some X-linked dominant conditions, such as Rett syndrome, incontinentiapigmenti type 2, and Aicardi syndrome, are usually fatal in males either...
reduced numbers of melanocytes and decreased stromal pigmentation. Incontinentiapigmenti Parry–Romberg syndrome Acquired heterochromia is usually due to...
whorled nevoid hypermelanosis. The differential diagnoses include incontinentiapigmenti, linear epidermal nevus, hypomelanosis of Ito and Goltz syndrome...
results in incontinentiapigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. IncontinentiaPigmenti (IP) is an...
Hallermann–Streiff syndrome, Orofaciodigital syndrome type I, Incontinentiapigmenti, Marfan syndrome, Nance–Horan syndrome, and Tricho-rhino-phalangeal...
tissue disorders, sarcoidosis, pemphigus, alopecia areata, and incontinentiapigmenti. Because pitting is caused by defective layering of the superficial...
tissue. This gene maps to the candidate region on chromosome X for incontinentiapigmenti. Chloride channel GRCh38: Ensembl release 89: ENSG00000155962 –...
patterns and are seen in some mosaic genetic disorders such as incontinentiapigmenti and pigment mosaicism. Dermatomal distributions are lines on the...
Mississippi, US Immunoprecipitation, a molecular biology technique Incontinentiapigmenti, a genetic disorder Infundibulopelvic ligament, part of the female...
journalist. Edwards lost sight in her right eye at age 11 due to incontinentiapigmenti, a genetic condition; she lost her remaining eyesight at age 17...
Global Information
