Living with Papillon-Lefèvre syndrome
A rare inherited condition with thick skin on the palms and soles and severe gum disease starting early in life.
Understanding Papillon-Lefèvre syndrome
It is a type of ectodermal dysplasia, which affects skin, teeth, and nails. Severe gum disease (periodontitis) starts early and can lead to early loss of baby teeth. Recurrent skin infections have also been reported. Signs appear from birth through childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thick skin on palms and soles
- Severe gum disease (periodontitis)
- Early loss of baby teeth
- Recurring skin infections and abscesses
- Poorly formed nails
- Frequent respiratory infections
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 allergy and immune system specialists, genetic specialists, gum, teeth and mouth specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in CTSC 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
National Foundation for Ectodermal Dysplasias and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias, Immune Deficiency Foundation
- 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 National Foundation for Ectodermal Dysplasias 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 CTSC gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: juvenile periodontosis with hyperkeratosis; keratosis palmoplantar-periodontopathy syndrome; keratosis palmoplantaris with periodontopathia; pals; papillon lefevre syndrome; papillon lefèvre syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasPapillon-Lefèvre syndrome · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Papillon-Lefèvre syndrome.
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