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Disease Profile
Kindler syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
Q81.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Poikiloderma, hereditary acrokeratotic; Bullous acrokeratotic poikiloderma of kindler and weary; Poikiloderma, congenital, with bullae, weary type;
Categories
Congenital and Genetic Diseases; Skin Diseases
Summary
Kindler
Symptoms
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 |
Aplasia/Hypoplasia of the skin |
Absent/small skin
Absent/underdeveloped skin
[ more ] |
0008065 |
Cheilitis |
Inflammation of the lips
|
0100825 |
Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] |
0000992 |
Erythema | 0010783 | |
Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 |
Poikiloderma | 0001029 | |
30%-79% of people have these symptoms | ||
Abnormal toenail morphology |
Abnormality of the toenail
Abnormality of the toenails
[ more ] |
0008388 |
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 |
Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] |
0001000 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Colitis | 0002583 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Esophageal stricture |
Narrowing of esophagus due to inflammation and scar tissue
|
0002043 |
Esophagitis |
Inflammation of the esophagus
|
0100633 |
Finger |
0006101 | |
Gingivitis |
Inflamed gums
Red and swollen gums
[ more ] |
0000230 |
Periodontitis | 0000704 | |
Phimosis | 0001741 | |
Premature loss of primary teeth |
Early loss of baby teeth
Premature loss of baby teeth
[ more ] |
0006323 |
Recurrent skin infections |
Skin infections, recurrent
|
0001581 |
5%-29% of people have these symptoms | ||
Abnormality of the anus | 0004378 | |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Low number of red blood cells or hemoglobin
|
0001903 | |
Atypical scarring of skin |
Atypical scarring
|
0000987 |
Conjunctivitis |
Pink eye
|
0000509 |
Corneal opacity | 0007957 | |
Ectropion |
Eyelid turned out
|
0000656 |
Laryngeal stenosis | 0001602 | |
Milia |
Milk spot
|
0001056 |
0100517 | ||
Short 4th metacarpal |
Shortened 4th long bone of hand
|
0010044 |
Short 5th metacarpal |
Shortened 5th long bone of hand
|
0010047 |
Squamous |
0002860 | |
Turricephaly |
Tall shaped skull
Tower skull shape
[ more ] |
0000262 |
Urethral stricture | 0012227 | |
Percent of people who have these symptoms is not available through HPO | ||
Acral blistering | 0031045 | |
Amniotic constriction ring | 0009775 | |
0000007 | ||
Corneal erosion |
Damage to outer layer of the cornea of the eye
|
0200020 |
Dermal atrophy |
Skin degeneration
|
0004334 |
Diffuse skin atrophy | 0007488 | |
Fragile skin |
Skin fragility
|
0001030 |
Palmoplantar hyperkeratosis |
Thickening of the outer layer of the skin of the palms and soles
|
0000972 |
Ridged nail |
Grooved nails
Nail ridging
[ more ] |
0001807 |
Spotty hyperpigmentation |
Spotty increased pigmentation
|
0005585 |
Spotty hypopigmentation |
Patchy hypopigmentation
Spotty decreased pigmentation
[ more ] |
0005590 |
Symblepharon |
Eyelid stuck to eyeball
|
0430007 |
Telangiectases in sun-exposed and nonexposed skin | 0007561 |
Diagnosis
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.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment
When possible, children with Kindler syndrome should be managed by a multidisciplinary team of specialists, which may include a
Skin care may include standard blister care; using moisturizers; and avoiding skin trauma and sun exposure. Mucosal involvement may require lubrication of the cornea; regular dental care for optimal oral hygiene to reduce periodontal disease; and management of gastrointestinal and urethral complications.
Management Guidelines
- DebRA International has developed clinical practice guidelines for epidermolysis bullosa which provide recommendations for clinical care. These clinical guidelines are for patients as well as healthcare professionals.
Related diseases
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.
|
Organizations
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.
Organizations Supporting this Disease
-
Children's Skin Disease Foundation (CSDF)
1600 S. Main St
Suite 192B
Walnut Creek, CA 94596
Telephone: 925-947-3825
Fax: 866-236-6474
E-mail: [email protected]
Website: https://www.csdf.org/ -
DebRA International
Am Heumarkt 27/3
1030 Vienna
Austria
Telephone: +43 1 876 40 30-0
Fax: +43 1 876 40 30-30
E-mail: [email protected]
Website: https://www.debra-international.org/ -
Epidermolysis Bullosa Center
The EB Center
Cincinnati Children's Hospital Medical Center
MLD 3004
3333 Burnet Avenue
Cincinnati, OH 45229-3039
Telephone: 513-636-2009
E-mail: [email protected]
Website: https://www.cincinnatichildrens.org/service/e/epidermolysis-bullosa -
Epidermolysis Bullosa Medical Research Foundation (EBMRF)
2757 Anchor Ave
Los Angeles, CA 90064
Telephone: +1-310-205-5119
E-mail: [email protected]
Website: https://ebmrf.org/ -
Genetic Skin Disease Center
Stanford Medical Dermatology Clinic
Stanford Medicine Outpatient Center
450 Broadway
Pavilion B, 4th Floor
Redwood City, CA 94063
Telephone: 650-723-6316
Fax: 650-725-7711
Website: https://dermatology.stanford.edu/contact/
Learn more
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.
Where to Start
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- Genetics Home Reference (GHR) contains information on Kindler syndrome. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Kindler syndrome. Click on the link to view a sample search on this topic.
References
- Freiman A. Kindler syndrome. Medscape. August 17, 2015; https://emedicine.medscape.com/article/1118967-overview.
- Kindler syndrome. Genetics Home Reference. June 2016; https://ghr.nlm.nih.gov/condition/kindler-syndrome.
- Leila Youssefian, Hassan Vahidnezhad, and Jouni Uitto. Kindler Syndrome. GeneReviews. March 3, 2016; https://www.ncbi.nlm.nih.gov/books/NBK349072/.
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