National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Incontinentia pigmenti


Other Names:
IP; Incontinentia pigmenti, familial male-lethal type; Bloch-Sulzberger syndrome; IP; Incontinentia pigmenti, familial male-lethal type; Bloch-Sulzberger syndrome; Incontinentia pigmenti type 2 (formerly); IP2 (formerly) See More
Categories:
This disease is grouped under:
Incontinentia pigmenti (IP) is a genetic condition that affects the skin and other body systems. Skin symptoms change with time and begin with a blistering rash in infancy, followed by wart-like skin growths. The growths become swirled grey or brown patches in childhood, and then swirled light patches in adulthood. Other signs and symptoms may include hair loss, small or missing teeth, eye abnormalities that can lead to vision loss, and lined or pitted nails. Most people with IP have normal intelligence, but some have developmental delay, intellectual disability, seizures, and/or other neurological problems. IP is caused by mutations in the IKBKG gene and is inherited in an X-linked dominant manner.[1]
Last updated: 7/29/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 82 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters
[ more ] 		0008066
Erythema 0010783
Hypodontia
Failure of development of between one and six teeth
0000668
Hypopigmented skin patches
Patchy loss of skin color
0001053
Hypoplastic fingernail
Small fingernail
Underdeveloped fingernail
[ more ] 		0001804
Irregular hyperpigmentation 0007400
Skin rash 0000988
Telangiectasia of the skin 0100585
Verrucae
Warts
0200043
30%-79% of people have these symptoms
Abnormal hand morphology
Abnormal shape of hand
0005922
Abnormality of dental morphology
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth
[ more ] 		0006482
Alopecia
Hair loss
0001596
Asymmetric growth
Uneven or disproportionate growth of one body part compared to another
0100555
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] 		0007018
Camptodactyly of finger
Permanent flexion of the finger
0100490
Corneal opacity 0007957
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] 		0000684
Deviation of finger
Atypical position of finger
Finger pointing in a different direction than usual
[ more ] 		0004097
Eosinophilia
High blood eosinophil count
0001880
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Hearing abnormality
Abnormal hearing
0000364
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] 		0000975
Hyperkeratosis 0000962
Oral cleft
Cleft of the mouth
0000202
Osteolysis
Breakdown of bone
0002797
Scoliosis 0002650
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Skin ulcer
Open skin sore
0200042
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Supernumerary nipple
Accessory nipple
0002558
Supernumerary ribs
Extra ribs
0005815
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
5%-29% of people have these symptoms
Abnormal chorioretinal morphology 0000532
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] 		0000682
Absent hand 0004050
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Broad nail
Broad fingernails
Wide fingernails
[ more ] 		0001821
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Cerebral ischemia
Disruption of blood oxygen supply to brain
0002637
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] 		0100543
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Dystrophic toenail
Poor toenail formation
0001810
Encephalitis
Brain inflammation
0002383
Finger syndactyly 0006101
Global developmental delay 0001263
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Keratitis
Corneal inflammation
0000491
Microphthalmia
Abnormally small eyeball
0000568
Muscular hypotonia
Low or weak muscle tone
0001252
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Retinal detachment
Detached retina
0000541
Retinal hemorrhage
Retinal bleeding
0000573
Retinal vascular proliferation 0007850
Ridged fingernail
Longitudinally grooved fingernails
0008402
Seizure 0001250
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Spina bifida occulta 0003298
Umbilical hernia 0001537
Uveitis 0000554
Percent of people who have these symptoms is not available through HPO
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] 		0001000
Atrophic, patchy alopecia 0004529
Breast aplasia
Absent breast
0100783
Breast hypoplasia
Underdeveloped breasts
0003187
Coarse hair
Coarse hair texture
0002208
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] 		0002213
Hemivertebrae
Missing part of vertebrae
0002937
Hypoplasia of the fovea 0007750
Hypoplastic nipples
Small nipples
0002557
Kyphoscoliosis 0002751
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Nail dysplasia
Atypical nail growth
0002164
Nail dystrophy
Poor nail formation
0008404
Nail pits
Nail pitting
Pitted nails
[ more ] 		0001803
Onychogryposis
Thick nail
Thickened nails
[ more ] 		0001805
Optic atrophy 0000648
Pallor 0000980
Ridged nail
Grooved nails
Nail ridging
[ more ] 		0001807
Scarring 0100699
Sparse hair 0008070
X-linked dominant inheritance 0001423
Showing of 82 |
Last updated: 7/1/2020
Incontinentia pigmenti (IP) is inherited in an X-linked dominant manner. The gene responsible for causing IP (IKBKG) is on the X chromosome (one of the two sex chromosomes), which is why the condition is "X-linked." The condition is dominant because in females, who have two X chromosomes, having a mutation in only one copy of the responsible gene is enough to cause the condition.[1]

In males, who have only one X chromosome, most IKBKG mutations result in a total loss of the protein for which the gene provides instructions. Males don't have another X chromosome with a working copy of the gene. When there is no working copy of this gene, IP is lethal in early development. This is why so few males are born with IP. Males living with this condition may have an IKBKG mutation with a mild effect; a mutation in only some of the body's cells (mosaicism); or an extra copy of the X chromosome in each cell.[1]

Some people with IP inherit an IKBKG mutation from a parent with the condition, while other cases are due to new mutations in the gene and occur in people with no history of the condition in their family.[1] When a female with IP has children, each female child has a 50% (1 in 2) risk to inherit the mutated gene. If a male is conceived, there is a 50% risk to be unaffected and a 50% risk to be affected and likely miscarry.
Last updated: 7/29/2014

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.
There is no specific treatment for incontinentia pigmenti. Treatment is aimed at addressing the specific symptoms seen in each individual. This might include standard management of blisters and skin infections, addressing dental problems and the associated speech and/or feeding problems, monitoring for retinal detachment and treating neovascularization with cryotherapy and laser photocoagulation, and addressing neurological symptoms such as seizures, muscle spasms or mild paralysis with medications or medical devices.[2][3][4]
Last updated: 10/5/2016
Life expectancy is considered to be normal for people with incontinentia pigmenti (IP) who did not develop significant complications in the newborn period or in infancy.[2][3] Newborns with IP who develop seizures and people with significant neurological involvement may have a worse prognosis.[5] In these cases, it is best to obtain information on prognosis and life expectancy from the affected person's physician.
Last updated: 10/5/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Stage I may be misdiagnosed as bullous impetigo, inherited epidermolysis bullosa, herpes, or varicella. Differential diagnosis of stage II includes warts, molluscum contagiosum, and epidermal nevus syndrome. Any condition with 'linear and swirled' pigmentation overlaps with stage III. Stage IV resembles scarring, vitiligo, or other hypopigmentations with localized alopecia. Note that chromosomal mosaicism can manifest swirled and linear pigmentation abnormalities in both males and females. Additional reported differential diagnoses are Naegeli-Franceschetti-Jadassohn syndrome and Norrie's disease.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Incontinentia pigmenti. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

  • The Incontinentia Pigmenti International Foundation maintains a Family Chat Room where you can connect with other families with loved ones with IP. Click on the link above to visit the chat room.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Incontinentia pigmenti. This website is maintained by the National Library of Medicine.
  • The Incontinentia Pigmenti International Foundation Web site provides information on this topic. Click on the link above to view the information page.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Incontinentia pigmenti. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Incontinentia pigmenti. Genetics Home Reference. June 2008; https://ghr.nlm.nih.gov/condition/incontinentia-pigmenti.
  2. Scheuerle A, Ursini MV. Incontinentia Pigmenti. GeneReviews. February 12, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1472/.
  3. Scheuerle A. Incontinentia pigmenti. Orphanet. September 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464.
  4. Yanik M, Scheuerle A. Incontinentia Pigmenti. National Organization for Rare Disorders (NORD). 2016; https://rarediseases.org/rare-diseases/incontinentia-pigmenti/.
  5. Stavrianeas NG, Kakepis ME. Incontinentia pigmenti. Orphanet Encyclopedia. 2004; http://www.orpha.net/data/patho/GB/uk-incontinentia-pigmenti.pdf.