National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Kindler syndrome


Other Names:
Poikiloderma, hereditary acrokeratotic; Bullous acrokeratotic poikiloderma of kindler and weary; Poikiloderma, congenital, with bullae, weary type; Poikiloderma, hereditary acrokeratotic; Bullous acrokeratotic poikiloderma of kindler and weary; Poikiloderma, congenital, with bullae, weary type; Congenital bullous poikiloderma; Poikiloderma of Kindler See More
Categories:
Kindler syndrome is a rare type of epidermolysis bullosa, a group of inherited conditions that cause fragile and blistering skin. Kindler syndrome causes skin to blister beginning in early infancy. Other symptoms may include increased sensitivity to light (photosensitivity); patchy discoloration of the the skin and small clusters of blood vessels (poikiloderma); thickening and hardening of the skin on the palms of the hands and soles of the feet (hyperkeratosis); and an increased risk for squamous cell carcinoma. The condition can also affect the moist lining of the mouth, eyes, esophagus, intestines, genitals, and urinary system. Kindler syndrome is caused by mutations in the FERMT1 gene (also called the KIND1 gene) and is inherited in an autosomal recessive manner. Treatment consists of avoiding skin injury, limiting sun exposure, and carefully tending to blisters (often with antibiotics).[1][2]
Last updated: 11/30/2016

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.

Showing of 50 |
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
Dysphagia
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 syndactyly 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
Anemia
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
Neoplasm of the urethra 0100517
Short 4th metacarpal
Shortened 4th long bone of hand
0010044
Short 5th metacarpal
Shortened 5th long bone of hand
0010047
Squamous cell carcinoma 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
Autosomal recessive inheritance 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
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Last updated: 7/1/2020
Kindler syndrome is inherited in an autosomal recessive manner.[2][3] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
  • 25% chance to be affected
  • 50% chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not a carrier
Last updated: 11/30/2016

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.
Currently there is no cure or established treatment for Kindler syndrome. Therefore, the goals of management are to treat the symptoms and prevent complications.

When possible, children with Kindler syndrome should be managed by a multidisciplinary team of specialists, which may include a dermatologist, ophthalmologist, dentist, gastroenterologist, urologist, and dietitian. This is best achieved in a center with experience in caring for children with skin fragility.

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.

Cancer screening should begin in adolescence and be repeated annually. This may include screening for pre-malignant keratoses and early squamous cell carcinomas.[3]
Last updated: 11/30/2016

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.

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.

Healthcare Resources

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.

Clinical Research Resources

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

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

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.

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


  1. Freiman A. Kindler syndrome. Medscape. August 17, 2015; http://emedicine.medscape.com/article/1118967-overview.
  2. Kindler syndrome. Genetics Home Reference. June 2016; https://ghr.nlm.nih.gov/condition/kindler-syndrome.
  3. Leila Youssefian, Hassan Vahidnezhad, and Jouni Uitto. Kindler Syndrome. GeneReviews. March 3, 2016; https://www.ncbi.nlm.nih.gov/books/NBK349072/.