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Disease Profile
Incontinentia pigmenti
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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 |
0002650 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |
Skin ulcer |
Open skin sore
|
0200042 |
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 |
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 |
0006101 | |
Global |
0001263 | |
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Keratitis |
Corneal inflammation
|
0000491 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Muscular |
Low or weak muscle tone
|
0001252 |
Pulmonary arterial |
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 |
0001250 | ||
DiagnosisMaking 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
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
Related diseasesRelated 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.
OrganizationsSupport 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
Learn moreThese 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
In-Depth Information
Selected Full-Text Journal Articles
References
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