Rare Pulmonology News

Disease Profile

Kindler syndrome

Prevalence
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

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 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]

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
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

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

    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]

    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.

      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

        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

            1. Freiman A. Kindler syndrome. Medscape. August 17, 2015; https://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/.

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