Incontinentia Pigmenti (IP) is an abnormal skin condition that can cause mental problems and even make patients unable to move. Read and know more about the causes, symptoms, diagnosis, treatment and more about this disorder.
It is an uncommon genetic syndrome that causes neurological and skeletal problems. A rare X-linked hereditary skin disorder, it manifests during birth or early childhood. This genetic condition leads to severe changes in the color of the skin. It affects various other parts of the body such as hair, eyes and teeth. This birth defect can also cause various skeletal and neurological difficulties that give rise to numerous physical complications.
This ailment is considered to be a type of Ectodermal Dysplasia.
The ICD9 code for this genetic disease is 757.33.
This disorder is known by various other names like:
Picture 1 – Incontinentia Pigmenti
It is a rare birth disorder which leads to the formation of abnormal light colored patches on the skin. It leads to various physical defects such as crossed eyes, hearing problems and other such difficulties.
It is an uncommon disorder. This rare syndrome affects around 900-1200 individuals, most of whom are females.
Severe skin rashes are the main cutaneous features of this disorder, which is classified into four stages:
This stage is visible within the first two weeks of birth and it generally affects scalp and extremities. This stage lasts from weeks to even months, in few cases.
This stage generally begins at birth, but in 70-80% cases it occurs after the first stage. It causes pustular or wart-like lesions. Though this stage lasts for months, in few cases, it continues for more than a year.
In this stage, the skin turns dark along with multiple patches. There is heavy pigmentation. The color of the skin pigment ranges from grey to blue and tends to fade away with time.
It is seen in 30-75% of patients and is visible as a hairless patch or streak.
IP is an X-linked infection. This indicates that abnormal incontinentia pigmenti is present in any of the X chromosomes, which is useful for finding out the sex of the fetus. Being a dominant X-linked disorder, a female affected with this condition – even with normal genetic material on their X-chromosome – is vulnerable to this disease with a single copy of the anomalous gene. The disease is rarely found in males, which suggests that being female can increase susceptibility to the condition.
New born babies with this disorder have blisters on their skin. These change into coarse bumps when the affected skin areas get cured. The bumps get eroded after some time and the color of the skin turns dark and shady. Such a condition is called Hyperpigmentation. The normal color of the skin returns eventually after a few years. It occurs before the age of 5 and causes visual problems.
Although IP is mainly a skin disorder, it affects various other parts of the body as well. Some of the primary symptoms associated with this disorder are:
IP not only affects the skin. It also impacts various other organs of the body of a patient as also the teeth. The impact of the condition on teeth is visible only during infancy. Dental abnormalities caused by IP are observed in almost 80% of the patients affected with the disorder. This disease affects both the infant and adult teeth and causes delay in dental growth. Affected teeth are weird in appearance and are often cone shaped or typically pegged.
Proper analysis of the disease is essential for a doctor to deliver the right treatment to an IP patient. A doctor has to perform a complete physical examination to diagnose a person suffering from this syndrome. A few other tests and signs can also be used to diagnose this syndrome:
No specific treatment is fixed for this genetic disorder. The treatment is generally aimed at relieving the particular symptoms.
IP is considered to be a very complicated medical situation. Hence genetic, dermatologic, ophthalmic and dental advice should be taken. A proper MRI scan of the brain should be done to find out the impact of the disorder in the brain. EEG should be done if seizures are found to be present. In a few cases, development therapy is needed. Genetic therapy is not available for patients suffering from this syndrome.
Presence of retinal detachment should be supervised with frequent ophthalmological examinations. The repairing of such detachments should be done by a vitreoretinal surgeon.
If any female has the IP (IKBKG mutation) syndrome, the probability of having a baby with this condition can be as high as 50 %. In most cases, however, it has been found that a pregnant woman has 33% chance to give birth to her unaffected male or unaffected female.
This type of diagnosis of the fetus, where any family member has a history of the disease, is possible only through a DNA analysis.
The time for recovery from this disease solely depends on the severity of the condition and how much the central nervous system, along with the eye, is affected. Although such skin problems are regressive in nature and eventually go away, an IP patient may also suffer from neurological problems.
A number of complications are associated with this disorder. These include:
Picture 2 – Incontinentia Pigmenti Image
Individuals with a family history of this disease may opt for genetic counseling, if they intend to have children in future.
Incontinentia Pigmenti is a rare hereditary disease. If left untreated, it can cause great damage to the skin as well as various other parts of the body. If your child displays any strange discoloration on his/her skin, call your health care provider immediately. When treated properly and in time, IP can resolve within a short time and all possible complications can be avoided.