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 | Very frequent (present in 80%-99% of cases) |
| Hypopigmented skin patches | Very frequent (present in 80%-99% of cases) |
| Reticulated skin pigmentation | Very frequent (present in 80%-99% of cases) |
| Bruising susceptibility | Frequent (present in 30%-79% of cases) |
| Dermal atrophy | Frequent (present in 30%-79% of cases) |
| Nail dystrophy | Frequent (present in 30%-79% of cases) |
| Palmoplantar keratoderma | Frequent (present in 30%-79% of cases) |
| Prematurely aged appearance | Frequent (present in 30%-79% of cases) |
| Milia | Occasional (present in 5%-29% of cases) |
| Autosomal dominant inheritance | - |
| Discrete 2 to 5-mm hyper- and hypopigmented macules | - |
| Mottled pigmentation of the trunk and proximal extremities | - |
| Nail dysplasia | - |
| Punctate palmoplantar hyperkeratosis | - |
| Thick nail | - |
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.
The following diseases are related to Epidermolysis bullosa simplex with mottled pigmentation. If you have a question about any of these diseases, you can contact GARD.
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My 1.5 year old daughter has epidermolysis bullosa simplex with mottled pigmentation. Is this disease curable? What treatment is available, and how might I find out if specific treatments may be available where I live? See answer
