About incontinentia pigmenti

What is incontinentia pigmenti?

Incontinentia Pigmenti (IP) is a rare genetic dermatological disorder affecting the skin, hair, teeth, and central nervous system. Progressive skin changes occur in four stages, the first of which appear in early infancy or can be present at birth. IP is an X-linked dominant genetic disorder caused by mutations in the IKBKG gene.

IP was named based on the appearance of the skin under the microscope.

What are the symptoms for incontinentia pigmenti?

Skin manifestations: blistering rashes at birth and heals over time symptom was found in the incontinentia pigmenti condition

The skin changes are the most characteristic and common features in IP. They are described in four stages. In all the stages, the Lesions appear in lines on the arms and legs or a swirled pattern on the trunk. They can be on the face and scalp.

1) The first stage of IP may be present at birth or appear during early infancy. This phase consists of Redness or Inflammation of the skin (erythema), blisters, and boils, most often affecting the extremities and the scalp. It can fade and come back again and again, commonly when there is an illness with fever. These recurrences may happen for years.

2) The second stage may overlap the first and may be present at birth. During this phase, the Blisters develop a raised, wart-like (verrucous) appearance, and the Lesions look like warts. There can be thick crusts or scabs with healing and areas of Darkened skin (increased pigmentation). The extremities are involved almost exclusively in this stage. These recurrences may happen for years.

3) The third stage may be present at birth in a small number of affected individuals, but usually appears between the ages of 6 and 12 months. In this phase, the skin is darkened (hyperpigmented). On the trunk, the dark is sometimes described as a “marble cake” appearance. The hyperpigmentation does not necessarily happen where the stage I and II rashes happen. The heavy pigmentation may fade over time, though they are permanent in many patients.

4) The “atrophic stage” is called the fourth stage, but there are suggestions that it may actually be present, but not obvious, at birth. These skin changes are pale or hypopigmented and hairless. There may be a diminished number of sweat glands.


Between 50 to 75 percent of individuals with IP have dental abnormalities. These abnormalities include a delay in the eruption of primary teeth; abnormal contours of teeth, giving them a peg-like or cone-shaped appearance; or the congenital absence of both primary and secondary teeth (anodontia); or small teeth, (microdontia).


Some individuals with IP have ridged, pitted, thickened (onychogryposis), or missing nails on the hands and/or feet. In some patients, painful growths may develop under the nail. These changes can be permanent.


Approximately 50 percent of individuals with IP have abnormal bald patches on the scalp (alopecia). This may happen where the stage one and two Lesions have left scars or as part of a congenital skin dysplasia. The hair may be coarse, wiry, and/or lusterless.


Nearly one-third of individuals have eye (ocular) abnormalities. The most serious, but least frequent, is a congenitally small, abnormal eye. In any patient there can be an abnormality in the growth of blood vessels in the membrane lining the eyes (retina). If it is going to occur, this typically appears before the age of five. This problem may be treated if detected early. If left untreated, it may cause retinal detachment leading to permanent visual impairment or total blindness.

Nervous System

The majority of individuals with IP will have no involvement of the nervous system. Severe neurologic complications can occur as a consequence of IP, the most serious of which is congenital or neonatal strokes. Some affected individuals may experience episodes of uncontrolled electrical disturbances in the brain (seizures). About 30 percent of children with IP will have slow motor development, muscle Weakness in one or both sides of the body, intellectual disability, and/or seizures.


Abnormalities in the development of the breast, ranging from extra nipples to complete absence of the breast, are sometimes seen in individuals with IP.

There are anecdotal reports of heat intolerance or lack of normal Sweating in people with IP, but this has not been formally studied.

What are the causes for incontinentia pigmenti?

IP is an X-linked dominant genetic disorder caused by mutations in the IKBKG gene (formerly called NEMO). IKBKG codes for a protein that helps regulate other proteins that help protect cells from self-destructing in response to specific triggers.

X-linked dominant disorders are caused by an abnormal gene on the X chromosome and occur mostly in females. Females with these rare conditions are affected when they have an X chromosome with the abnormality causing a particular disease. Males with an abnormal gene for an X-linked dominant disorder are more severely affected than females and often do not survive pregnancy. Affected males who survive may have an IKBKG gene mutation with relatively mild effects, an IKBKG mutation in only some of the body’s cells (mosaicism), or an extra copy of the X chromosome in each cell.

What are the treatments for incontinentia pigmenti?

Skin abnormalities characteristic of IP may disappear by adolescence or adulthood without any treatment. The Stage I and II lesions may recur with routine febrile illness well into adulthood.

Neurological symptoms such as seizures, muscle spasms, or paralysis may be controlled with various drugs and/or medical devices. Developmental delays and/or intellectual disabilities should be managed as needed with targeted therapies and school assistance.

Cryotherapy and laser photocoagulation may be used to treat affected individuals with retinal neovascularization that predisposes to retinal detachment.

Dental abnormalities can often be treated effectively by dentists who may provide implants in childhood as needed. If dental abnormalities interfere with chewing and/or speech, assistance from a speech pathologist and/or pediatric nutritionist may be necessary.

Hair problems may require the attention of a dermatologist, although they are usually not severe.

Genetic counseling is recommended for affected individuals and their families. Other treatment is symptomatic and supportive.

What are the risk factors for incontinentia pigmenti?

Approximately 1,200 individuals with IP have been reported in the scientific literature. Most of those affected are female, but several dozen males with IP have also been reported. Current estimates from public health and analytical systems put the birth prevalence at 0.6-2.1/1,000,000. The female:male ratio is 20:1.

Is there a cure/medications for incontinentia pigmenti?

Specific treatment for incontinentia pigmenti has not yet been described. However, the management of the disease requires a multidisciplinary approach and needs consultation with different specialists from time to time.

  • Lesions appear within a few months from birth but disappear by adolescence. However, the lesions recur and require to be managed.
  • All stage lesions must be kept cool and dry.
  • The patients develop hypodidrosis, which refers to heat intolerance, and overheating could be life-threatening. Hence, the patients should get used to cool baths, use of icepacks, and shades
  • Developmental delays and mental abnormalities require targeted therapy and school assistance as needed.
  • Neurologists may recommend drugs to control seizures, paralysis, and muscle spasms.
  • Carbamazepine, Oxcarbazepine, Lamotrigine, Phenytoin, and Valproic acid are some of the anti-seizure drugs.
  • Hair abnormalities may need the attention of a dermatologist, though the severity is less.
  • Cryotherapy and laser photocoagulation are to treat retinal neovascularization and prevent the risk of retinal detachment.

Skin manifestations: blistering rashes at birth and heals over time, wart-like skin growths that fade with time and recur as grey or brown hyperpigmentation. In adults, lines of hypopigmentation on arms and legs,Other symptoms include hair loss (alopecia) 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
Anti-epileptic drugs including Carbamazepine, Oxcarbazepine, Lamotrigine, Phenytoin, and Valproic acid,Paralytic drugs such as succinyl choline, rocuronium, doxacurium and mivacurium,Muscle relaxants include baclophen and Benzodiazepines

Video related to incontinentia pigmenti