Kindler syndrome

How is Kindler syndrome inherited?

Kindler syndrome is inherited in an autosomal recessive manner. 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 on 05-01-20

Can an individual with Kindler syndrome who develops breast cancer undergo standard cancer treatments?

Unfortunately, there is limited information and no established guidelines for treatment for breast cancer in an individual with Kindler syndrome. We identified only one reported case of breast cancer in a woman with this condition. She was treated with chemotherapy, trastuzumab, and tamoxifen. Because this patient experienced severe diarrhea during the chemotherapy treatments, her physicians suggest that chemotherapy may be more toxic for individuals with Kindler syndrome because the lining of the digestive tract may be more sensitive than usual because of this condition.

Last updated on 05-01-20

What is the likelihood of having a child with Kindler syndrome?

Kindler syndrome is inherited in an autosomal recessive pattern. This means that both parents must be a carrier of a mutation in the FERMT1 gene for there to be a chance that their child could have Kindler syndrome. Because Kindler syndrome is so rare, it is very unlikely that both members of a couple are carriers. However, if both parents are carriers, there is a 25% chance for each child to be affected, a 50% chance for each child to be an unaffected carrier, and a 25% chance for each child to be neither affected nor a carrier.

Last updated on 05-01-20

How might Kindler syndrome be treated?

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.

Last updated on 05-01-20

Name: Genetic Skin Disease Center Stanford Medical Dermatology Clinic Stanford Medicine Outpatient Center
450 Broadway Pavilion B, 4th Floor
Redwood City, CA, 94063, United States
Phone: 650-723-6316 Fax : 650-725-7711 Url:
Name: Epidermolysis Bullosa Center The EB Center Cincinnati Children's Hospital Medical Center
MLD 3004 3333 Burnet Avenue
Cincinnati, OH, 45229-3039, United States
Phone: 513-636-2009 Email: Url:
Name: DebRA International Am Heumarkt 27/3 1030 Vienna
Phone: +43 1 876 40 30-0 Fax : +43 1 876 40 30-30 Email: Url:
Name: Epidermolysis Bullosa Medical Research Foundation EBMRF 2757 Anchor Ave
Los Angeles, CA, 90064,
Phone: +1-310-205-5119 Email: Url:
Name: Children's Skin Disease Foundation CSDF 1600 S. Main St Suite 192B
Walnut Creek, CA, 94596, United States
Phone: 925-947-3825 Fax : 866-236-6474 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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