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||
|80%-99% of people have these symptoms|
|Abnormal blistering of the skin||
Blisters[ more ]
|Abnormality of the gingiva||
Abnormality of the gums
Husky voice[ more ]
Firm lump under the skin
Growth of abnormal tissue under the skin[ more ]
|Thick lower lip vermilion||
Increased volume of lower lip
Plump lower lip
Prominent lower lip[ more ]
|30%-79% of people have these symptoms|
|Alopecia of scalp||
Pathologic hair loss from scalp
Scalp hair loss[ more ]
Swallowing difficulty[ more ]
Increased palatal height[ more ]
Abnormally small tongue
Underdevelopment of the tongue[ more ]
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
|5%-29% of people have these symptoms|
Abnormal deposits of calcium in the brain
|Percent of people who have these symptoms is not available through HPO|
Aggressiveness[ more ]
|Bilateral intracranial calcifications||0005671|
Sensory hallucination[ more ]
Poor memory[ more ]
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.
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
The main differential diagnoses are hydroa vacciniforme and autosomal erythropoietic protoporphyria, but also include leprosy, lichen amyloidosis (see these terms), and xanthomas.
Visit the Orphanet disease page for more information.
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.
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