What are the other Names for this Condition? (Also known as/Synonyms)

• Bloch-Siemens-Sulzberger Syndrome
• Melanoblastosis Cutis Linearis
• Nevus Pigmentosus Systematicus

What is Incontinentia Pigmenti? (Definition/Background Information)

• Incontinentia Pigmenti (IP) is an infrequent genetic disorder that especially affects the skin and many other body systems, such as those involving the eye, teeth, and central nervous system
• This congenital disorder is inherited as an X-linked dominant pattern and affects both males and females. In males, the genetic mutation can be fatal during the embryonic development stage. Hence, far fewer males are born with the disorder than females
• The signs and symptoms of Incontinentia Pigmenti may include pigmented skin patches that keep changing as the individual grows. Additionally, there may be early hair loss, dental abnormalities, and neurological symptoms such as seizures, intellectual retardation, etc.
• The treatment of Incontinentia Pigmenti is based on the symptoms that develop and may include the use of topical creams and medlications, medications to treat neurological conditions, dental corrections, and physical and occupational therapy
• The prognosis of Incontinentia Pigmenti is dependent upon the severity of the signs and symptoms. However, the prognosis is generally good for females and they can lead near normal lives

Who gets Incontinentia Pigmenti? (Age and Sex Distribution)

• Incontinentia Pigmenti is a rare disorder that manifests at birth; the signs and symptoms may be present in the newborn child
• There is a strong predilection for females, though a few cases in males have been observed
• The incidence rate of Incontinentia Pigmenti is around 1 in 40,000
• The disorder appears to be slightly more common in Caucasians, Africans, and Asians 

What are the Risk Factors for Incontinentia Pigmenti? (Predisposing Factors)

• A positive family history of Incontinentia Pigmenti is the only known risk factor for the condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Incontinentia Pigmenti? (Etiology)

Incontinentia Pigmenti is a genetic disorder that is inherited in an X-linked dominant manner.

• In this disorder, there are genetic mutations in the IKBKG gene, which is responsible for the production of a protein (nuclear factor-kappa-B)
• Due to the abnormal mutations (causing deletion of genetic material in 80% of the cases), the protein production is affected and it results in the early death of cells. This causes the various signs and symptoms of Incontinentia Pigmenti
• In a minority of cases, there are mutations that causes an absence of the IKBKG protein, leading to poorly-functioning nuclear factor-kappa-B
• Occasionally, individuals with no family history of Incontinentia Pigmenti develop the disorder, because of new mutations that occur randomly

X-linked dominant: X-linked dominant conditions are traits or disorders that occur when one copy of an abnormal gene has been inherited on a sex chromosome (X or Y chromosome). In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene is capable of causing the condition, even though the other gene is normal, because of a masking effect. If the mutant gene is on the father’s X chromosome, all daughters will inherit the disease but no sons will get it. If, however, the mother carries the abnormal X gene, both daughters and sons will have a 50% chance of inheriting the disease.

What are the Signs and Symptoms of Incontinentia Pigmenti?

Incontinentia Pigmenti is a congenital disorder that particularly affects the skin, which is mostly present as a skin rash or blister in the newborn.

• The rash may heal, but is replaced by the formation of wart-like skin growths (not caused by HPV)
• As the child grows, the skin condition also changes and grey/brown pigmented patches (in a swirling or circular form) may be seen
• Into adulthood, the skin patch pigmentation may lighten and appear like streaks, typically on the limbs
• Other skin-related abnormalities include pitted nails on the fingers and toes, early hair loss, etc.

Additionally, the following signs and symptoms of Incontinentia Pigmenti may also be present:

• Dental defects including missing teeth or small teeth
• Loss of vision
• Neurological symptoms may be present in some individuals, which includes mental retardation, epileptic seizures, and delayed growth rate according to age

How is Incontinentia Pigmenti Diagnosed?

Incontinentia Pigmenti may be diagnosed using the following tools:

• Complete physical examination with evaluation of medical history
• Skin biopsy: A skin biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis
• Genetic tests and analysis
• Prenatal exams include amniocentesis and chorionic villus sampling to detect IKBKG mutations
• Eye exam to check for vision loss severity

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Incontinentia Pigmenti?

Complications due to Incontinentia Pigmenti include:

• Severe neurological (central nervous system) complications that may include cerebral atrophy, mental retardation, and paralysis
• Muscular anomalies such as muscle spasticity and walking difficulties
• Delayed development
• Secondary skin infection by bacteria or fungi
• Severe vision loss

How is Incontinentia Pigmenti Treated?

Incontinentia Pigmenti disorder has no known cures. The management of the disorder is based on the specific conditions/complications that develop. A symptomatic approach is usually adopted.

• Skin lesions are usually not treated; however, the inflammation may be controlled using topical applications and corticosteroids
• Epileptic seizures and spasticity may be controlled using anticonvulsants drugs
• For vision defects, glasses are prescribed; also, regular eye-check may be advised
• Dental defects may be corrected through the use of suitable dentures
• For improving motor skills and mental disabilities, special therapeutic treatment (by physical and occupational therapists) and supportive care is required

How can Incontinentia Pigmenti be Prevented?

Currently, there are no specific methods or guidelines to prevent Incontinentia Pigmenti, since it is a genetic condition.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Incontinentia Pigmenti
• Regular medical screening at periodic intervals with tests, scans and physical examinations are mandatory

What is the Prognosis of Incontinentia Pigmenti? (Outcomes/Resolutions)

• The prognosis of the female child with Incontinentia Pigmenti is generally good. But, it is dependent upon the severity of the neurological abnormalities, vision loss, developmental delays, and age at onset
• However, with constant care and support by family members and medical aids, the affected individuals are able to manage their lives. Also, most individuals are not intellectually challenged and have normal intelligence
• In males, Incontinentia Pigmenti can be a fatal genetic disorder. Almost all male baby fetuses are spontaneously aborted before the full-term is completed. Only those with mild signs and symptoms lead normal lives with normal lifespan

Additional and Relevant Useful Information for Incontinentia Pigmenti:

There are voluntary organizations and support groups that provide help and understanding to the families and parents of the Incontinentia Pigmenti disorder affected.