Papillon-Lefèvre syndrome

What it is

From: Orphanet

Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormal fingernail morphology · Very frequent (99-80%)

An abnormality of the fingernails.

Abnormality of the dentition · Very frequent (99-80%)

Any abnormality of the teeth.

Gingivitis · Very frequent (99-80%)

Inflammation of the gingiva

Palmoplantar hyperkeratosis · Very frequent (99-80%)

Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.

Palmoplantar keratoderma · Very frequent (99-80%)

Abnormal thickening of the skin of the palms of the hands and the soles of the feet.

Periodontitis · Very frequent (99-80%)

Inflammation of the periodontium.

Premature loss of primary teeth · Very frequent (99-80%)

Loss of the primary (also known as deciduous) teeth before the usual age.

Pustule · Very frequent (99-80%)

A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.

Severe periodontitis · Very frequent (99-80%)

Increased susceptibility to periodontitis, as manifested by severe periodontal infection with rapid alveolar bone loss, tooth mobility, and premature tooth exfoliation.

Tooth agenesis · Very frequent (99-80%)

The absence of one or more teeth from the normal series by a failure to develop

Atrophy of alveolar ridges · Very frequent (99-80%)

Abnormal nail morphology · Frequent (79-30%)

Abnormal structure or appearance of the nail.

Cerebral calcification · Frequent (79-30%)

The presence of calcium deposition within the cerebrum.

Chronic furunculosis · Frequent (79-30%)

A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.

Other findings in the same source

From: Orphanet

Additional reported features include Nail dystrophy (Frequent (79-30%)); Recurrent cutaneous abscess formation (Frequent (79-30%)); Recurrent respiratory infections (Frequent (79-30%)); Recurrent skin infections (Frequent (79-30%)); Arachnodactyly (Occasional (29-5%)); Cigarette-paper scars (Occasional (29-5%)); Generalized hirsutism (Occasional (29-5%)); Hypertrichosis (Occasional (29-5%)); Liver abscess (Occasional (29-5%)); Melanoma (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Childhood; Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal recessive

Frequency and the population described

From: Orphanet

Point prevalence: 1-9 / 1 000 000; Worldwide; Value and class.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal recessive pattern usually involves disease-causing changes in both copies of a gene. Parents may each carry one altered copy without having the condition themselves. A genetic counsellor can explain carrier testing and reproductive implications using the actual laboratory findings, rather than the condition name alone.

Which doctor should you see?

The suggested department for discussing Papillon-Lefèvre syndrome is Dermatology, with a dermatologist as the relevant type of clinician. Dermatologist; paediatric services for children as appropriate.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which features of the skin, hair or nails distinguish the possibilities?
• Would photographs over time help document the changes?
• What should be expected from treatment, and how will irritation or other adverse effects be managed?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Papillon-Lefèvre syndrome. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.