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 |
| Abnormality of the anus | 0004378 | |
| Absent fingernail | 0001817 | |
| Absent toenail | 0001802 | |
| Ankyloglossia |
Tongue tied
|
0010296 |
| Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
| Constipation | 0002019 | |
| Dermal atrophy |
Skin degeneration
|
0004334 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| Esophageal stricture |
Narrowing of esophagus due to inflammation and scar tissue
|
0002043 |
| Milia |
Milk spot
|
0001056 |
| Narrow mouth |
Small mouth
|
0000160 |
| Pruritus |
Itching
Itchy skin
Skin itching
[ more ]
|
0000989 |
| Refractory |
0005505 | |
| Squamous |
0006739 | |
| 30%-79% of people have these symptoms | ||
| Blepharitis |
Inflammation of eyelids
|
0000498 |
| Corneal erosion |
Damage to outer layer of the cornea of the eye
|
0200020 |
| Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
|
0000823 |
| Ectropion |
Eyelid turned out
|
0000656 |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Loss of eyelashes |
Eyelashes fell out
Missing eyelashes
[ more ]
|
0011457 |
| Mitten deformity | 0004057 | |
| Osteopenia | 0000938 | |
| 0000939 | ||
| Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ]
|
0000529 |
| Scarring alopecia of scalp | 0004552 | |
| 5%-29% of people have these symptoms | ||
| Dilated |
Stretched and thinned heart muscle
|
0001644 |
| Hypoalbuminemia |
Low blood albumin
|
0003073 |
| Percent of people who have these symptoms is not available through HPO | ||
| Alopecia |
Hair loss
|
0001596 |
| Anemia |
Low number of red blood cells or hemoglobin
|
0001903 |
| Atrophic scars |
Sunken or indented skin due to damage
|
0001075 |
| 0000007 | ||
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
|
Symptoms present at birth
|
0003577 | |
| Conjunctivitis |
Pink eye
|
0000509 |
| Corneal scarring | 0000559 | |
| Fragile skin |
Skin fragility
|
0001030 |
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
| Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
| Malnutrition | 0004395 | |
| Nail dysplasia |
Atypical nail growth
|
0002164 |
| Nail dystrophy |
Poor nail formation
|
0008404 |
| Spontaneous esophageal perforation | 0005203 | |
| Squamous cell carcinoma | 0002860 | |
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 differential diagnosis includes other forms of EB. In the neonatal period also herpes simplex infection, congenital erosive and vesicular dermatosis, epidermolytic ichthyosis, bullous pemphigoid, neonatal pemphigus and pemphigoid gestationis, and staphylococcal scalded skin syndrome (see these terms) may need to be considered.
Visit the
Orphanet disease page
for more information.
|
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.
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.
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.
