Rare Immunology News

Disease Profile

Incontinentia pigmenti

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Neonatal

ICD-10

Q82.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

IP; Incontinentia pigmenti, familial male-lethal type; Bloch-Sulzberger syndrome;

Categories

Congenital and Genetic Diseases; Eye diseases; Mouth Diseases;

Summary

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 delayintellectual 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]

Symptoms

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.

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

Diagnosis

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.

    Treatment

    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]

    Organizations

    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.

        Learn more

        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.
        • 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.
        • Genetics Home Reference (GHR) contains information on Incontinentia pigmenti. This website is maintained by the National Library of Medicine.
        • 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.

              References

              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; https://www.ncbi.nlm.nih.gov/books/NBK1472/.
              3. Scheuerle A. Incontinentia pigmenti. Orphanet. September 2013; https://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; https://www.orpha.net/data/patho/GB/uk-incontinentia-pigmenti.pdf.

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