Living with Kindler syndrome
An inherited skin condition with blistering from infancy, thin papery skin, sun sensitivity, and fragile moist linings such as in the mouth.
Understanding Kindler syndrome
Blistering starts in early infancy, mostly on the backs of the hands and tops of the feet, and becomes less frequent over time. Skin becomes thin and papery, with changes in color and small visible blood vessels (poikiloderma). People sunburn easily. The moist linings of the mouth, eyes, esophagus, intestines, genitals, and urinary tract can be fragile. Severe gum disease, narrowing of the esophagus, and colitis can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin blistering
- Thin, papery skin with color changes (poikiloderma)
- Sun sensitivity
- Gum disease and early tooth loss
- Narrowing of the esophagus
- Fused skin between the fingers
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in FERMT1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
DEBRA of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: DEBRA of America
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with DEBRA of America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FERMT1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: bullous acrokeratotic poikiloderma of kindler and weary; congenital bullous poikiloderma; hereditary acrokeratotic poikiloderma of weary; kindler epidermolysis bullosa; kindler's syndrome; kndlrs
Patient organizations
- DEBRA of AmericaKindler syndrome · United States
- Epidermolysis Bullosa Medical Research FoundationKindler syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Kindler syndrome.
Explore research for Kindler syndrome
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