Recurrent respiratory papillomatosis

What it is

From: Orphanet

A rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation vary with the age of patients and the extent of lesions and include dysphonia, chronic cough and recurrent respiratory infections.

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.

Hoarse voice · Very frequent (99-80%)

Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.

Abnormal trachea morphology · Frequent (79-30%)

A structural anomaly of the trachea.

Dysphonia · Frequent (79-30%)

Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.

Respiratory distress · Frequent (79-30%)

Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.

Dysphagia · Occasional (29-5%)

Difficulty in swallowing.

Dyspnea · Occasional (29-5%)

Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.

Failure to thrive · Occasional (29-5%)

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

Hemoptysis · Occasional (29-5%)

Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.

Nonproductive cough · Occasional (29-5%)

A cough that does not produce phlegm or mucus.

Recurrent pneumonia · Occasional (29-5%)

An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.

Recurrent upper respiratory tract infections · Occasional (29-5%)

An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).

Stridor · Occasional (29-5%)

Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.

Tachypnea · Occasional (29-5%)

Very rapid breathing.

Upper airway obstruction · Occasional (29-5%)

Increased resistance to the passage of air in the upper airway.

Other findings in the same source

From: Orphanet

Additional reported features include Wheezing (Occasional (29-5%)); Respiratory insufficiency (Occasional (29-5%)); Abnormal lung morphology (Very rare (<4-1%)); Atelectasis (Very rare (<4-1%)); Choking episodes (Very rare (<4-1%)); Fever (Very rare (<4-1%)); Squamous cell carcinoma (Very rare (<4-1%)); Syncope (Very rare (<4-1%)); Tracheomalacia (Very rare (<4-1%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adolescent; Adult; Childhood; Infancy

Inheritance in the source

From: Orphanet

Not applicable

Frequency and the population described

From: Orphanet

Point prevalence: 1-9 / 100 000; Netherlands; Value and class. Annual incidence: 1-9 / 1 000 000; Netherlands; Value and class. Annual incidence: 1-9 / 100 000; United States; Value and class. Annual incidence: 1-9 / 1 000 000; Denmark; Value and class.

Which doctor should you see?

The suggested department for discussing Recurrent respiratory papillomatosis is Pulmonology, with a pulmonologist / chest physician as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

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.

• What is the likely explanation for the breathing symptoms?
• Would a breathing test or another investigation change management?
• If symptoms worsen, what written action plan should be followed?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Recurrent respiratory papillomatosis. 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.