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 ]
|Aplasia/Hypoplasia of the skin||
Absent/underdeveloped skin[ more ]
Inflammation of the lips
Photosensitive skin rashes
Sensitivity to sunlight
Sun sensitivity[ more ]
Thickening of palms and soles
|30%-79% of people have these symptoms|
|Abnormal toenail morphology||
Abnormality of the toenail
Abnormality of the toenails[ more ]
|Abnormality of dental enamel||
Abnormal tooth enamel
Enamel abnormality[ more ]
|Abnormality of skin pigmentation||
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary skin changes
Pigmentation anomaly[ more ]
|Camptodactyly of finger||
Permanent flexion of the finger
Tooth decay[ more ]
Swallowing difficulty[ more ]
Narrowing of esophagus due to inflammation and scar tissue
Inflammation of the esophagus
Red and swollen gums[ more ]
|Premature loss of primary teeth||
Early loss of baby teeth
Premature loss of baby teeth[ more ]
|Recurrent skin infections||
Skin infections, recurrent[ more ]
|5%-29% of people have these symptoms|
|Abnormality of the anus||0004378|
|Abnormality of the ribs||
Low number of red blood cells or hemoglobin
|Atypical scarring of skin||
Eyelid turned out
|Short 4th metacarpal||
Shortened 4th long bone of hand
|Short 5th metacarpal||
Shortened 5th long bone of hand
Tall shaped skull
Tower skull shape[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Amniotic constriction ring||0009775|
Damage to outer layer of the cornea of the eye
|Diffuse skin atrophy||0007488|
Thickening of the outer layer of the skin of the palms and soles
Nail ridging[ more ]
Spotty increased pigmentation
Spotty decreased pigmentation[ more ]
Eyelid stuck to eyeball
|Telangiectases in sun-exposed and nonexposed skin||0007561|
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.
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 all forms of inherited EB, in particular dystrophic EB and EB simplex with mottled pigmentation (see these terms), as well as congenital diseases with photosensitivity and poikiloderma, such as Rothmund-Thomson syndrome, Bloom syndrome, dyskeratosis congenita, poikiloderma with neutropenia or xeroderma pigmentosum (see these terms).
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. Submit a new question
My mother had Kindler Syndrome. I now have two daughters of my own. It never even crossed my mind during my pregnancies that I might be passing along this gene or give birth to a child with Kindler Syndrome. In general, what is the likelihood of me having a child with this disease? See answer
A young woman with Kindler syndrome recently developed breast cancer. She will have surgery and needs radiation therapy. Is it safe to give radiation therapy considering she has Kindler syndrome? Are there chemotherapy drugs that should be avoided? Can she take trastuzumab? If she needs hormonal treatment, which medication may be the safest choice? See answer