The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal blistering of the skin||90%|
|Abnormality of the fingernails||90%|
|Hypopigmented skin patches||90%|
|Reduced number of teeth||90%|
|Telangiectasia of the skin||90%|
|Abnormality of dental morphology||50%|
|Abnormality of the ribs||50%|
|Attention deficit hyperactivity disorder||50%|
|Camptodactyly of finger||50%|
|Delayed eruption of teeth||50%|
|Deviation of finger||50%|
|Opacification of the corneal stroma||50%|
|Abnormality of dental enamel||7.5%|
|Abnormality of the retinal vasculature||7.5%|
|Abnormality of the toenails||7.5%|
|Aplasia/Hypoplasia affecting the eye||7.5%|
|Cerebral cortical atrophy||7.5%|
|Congestive heart failure||7.5%|
|Inflammatory abnormality of the eye||7.5%|
|Spina bifida occulta||7.5%|
|Abnormality of skin pigmentation||-|
|Atrophic, patchy alopecia||-|
|Retinal vascular proliferation||-|
|X-linked dominant inheritance||-|
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.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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. Submit a new question
My daughter has IP and is experiencing severe issues with her back. She's seen an Ortho specialist, but I was wondering if this could be part of her IP? See answer
If I am considering having a child, what can I do to prevent my child from being affected by this disorder? See answer
My daughter has been diagnosed with incontinentia pigmenti. My questions are: Is there a life span on someone who has IP? Does IP make the child have weight issues (my daughter is underweight for her age)? Does IP affect any areas inside the body, such as internal organs? She looks like her father, does this mean she may have inherited the condition from him? See answer