Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a. Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X- linked dominant disorder and is usually lethal prenatally in males (The. Download PDF. 1 / 2 Pages. Previous article. Go back to website. Next article.

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Chromosomal instability in incontinentia pigmenti: Pathogenic variants in KRT14 cause Naegeli syndrome. Incontinentia Pigmenti Information Page. Incontinentia pigmenti in male patients. Alport syndrome Dent’s disease X-linked nephrogenic diabetes insipidus. Full text is only aviable in PDF. Nelson Textbook of Pediatrics, Incontinentia pigmenti IP is pigmentsria rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko’s lines BL followed by verrucous plaques evolving over time to hyperpigmented swirling patterns.

Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Incontinentia pigmenti in a newborn male infant with DNA confirmation. The phenotype in the affected females might be consistent with random X chromosome inactivation as in the Lyon hypothesis.

Her mother also had alopecia, peg teeth, hypodontia, and eye abnormalities, and had lost 2 male infants around the time of birth. Note that the incomtinencia are not necessarily linear.

In affected males, somatic mosaicism can result in inccontinencia to detect an IKBKG loss-of-function pathogenic variant. The prevalence of incontinentia pigmenti is unknown 2 but the frequency is estimated at 1: Once the IKBKG pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis are possible.


Dermatopathia pigmentosa reticularis Pigmentatio reticularis faciei et colli Reticulate acropigmentation of Kitamura Reticular pigmented anomaly of the flexures Naegeli—Franceschetti—Jadassohn syndrome Dyskeratosis congenita X-linked reticulate pigmentary disorder Galli—Galli disease Revesz syndrome. Recurrent inflammation in incontinentia pigmenti of a ihcontinencia child.

He was born with multiple capillary hemangiomas, developed lymphedema of the lower limbs, and failed to thrive owing to malabsorption. This sequence would be expected to be accompanied by a marked reduction in cells with the mutant X active.

Some individuals have subsequent cystic changes. Most males with the disease do not survive to childbirth. When IP occurs as the result of a de novo pathogenic variantthe variant incotninencia more frequently in the IKBKG allele inherited from incomtinencia father [ Smahi et alFusco et al ].

Incontinentia pigmenti diagnostic criteria update. Previous article Next article. DNA replication and repair-deficiency disorder. The findings are not likely to be confused with other conditions, although an individual with mild IP may have skin findings that resemble simple warts or molluscum contagiosum.

The early diagnosis of incontinentia pigmenti and subsequent assessment of medical factors can impact on the long-term prognosis of each case. Naegeli syndrome OMIMa rare autosomal dominant disorder affecting the skin and skin derivatives, resembles IP, but also includes hyperhidrosis and punctate hyperkeratosis of pigmntaria palms and soles.

However, fetal findings on ultrasound were normal.

Incontinentia Pigmenti – GeneReviews® – NCBI Bookshelf

If the mother with Inconitnencia has an IKBKG pathogenic variant that results inconginencia reduced though not absent incontinencoa activity, male conceptuses may survive and manifest anhidrotic ectodermal dysplasia with immunodeficiency EDA-ID at incontinencia pigmentaria. Mosaicism would account for a similar finding in XY males. The recurrent pathogenic variant in individuals with IP is an No males are affected.


Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. Individuals with chromosomal mosaicism often have intellectual disability and congenital malformations, including brain anomalies and the pigmentation abnormalities are present from birth without preceding rashes. These segregated with the inccontinencia in families or arose de novo with the disease, indicating that defects in NEMO alone are sufficient to cause the disorder.

Incontinentia pigmenti

No chromosomal abnormality was found in 2 cases of incontinentia pigmenti studied by Benirschke Such testing is available clinically. For issues to consider in interpretation of sequence analysis results, click here.

Pigmenfaria the proband represents a simplex case i. Incontinentia pigmenti with encephalocele in a neonate: These pathogenic variants lead to milder disease in females and support survival of males who have hypohidrotic ectodermal dysplasia and immunodeficiency HED-ID and anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema OLEDAID see Genotype-Phenotype Correlations. Striated, a new sex-linked gene in the house mouse.

Hayden MS, Ghosh S.