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Disease Profile
Recurrent respiratory papillomatosis
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Childhood
ICD-10
-
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
RRP; Juvenile laryngeal papilloma; Laryngeal papilloma, recurrent;
Categories
Ear, Nose, and Throat Diseases; Lung Diseases
Summary
Recurrent respiratory papillomatosis (RRP) is a rare viral disease where
Symptoms
Symptoms may include:[1][3]
- Growth of benign (non-cancerous)
tumors in the airway - Voice hoarseness (dysphonia)
- Shortness of breath (dyspnea)
- Chronic cough
Recurrent respiratory papillomatosis (RRP) is a chronic disease, meaning it is a long-term or persistent condition. It can occur in childhood, before age 12, or in adulthood, usually between ages 20-40. Earlier age at onset is associated with more severe symptoms. RRP is very unpredictable. In some people, RRP goes away on its own, while in others, it causes severe, recurring disease. Very rarely, the tumors in RRP can become cancerous and spread.[1][3][4]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Hoarse voice |
Hoarseness
Husky voice
[ more ] |
0001609 |
30%-79% of people have these symptoms | ||
Dysphonia |
Inability to produce voice sounds
|
0001618 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
5%-29% of people have these symptoms | ||
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Hemoptysis |
Coughing up blood
|
0002105 |
Nonproductive cough |
Dry cough
|
0031246 |
Recurrent pneumonia | 0006532 | |
Recurrent upper respiratory tract infections |
Recurrent colds
|
0002788 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Stridor | 0010307 | |
Tachypnea |
Increased respiratory rate or depth of breathing
|
0002789 |
Upper airway obstruction | 0002781 | |
Wheezing | 0030828 | |
1%-4% of people have these symptoms | ||
Atelectasis |
Partial or complete collapse of part or entire lung
|
0100750 |
Choking episodes | 0030842 | |
Fever | 0001945 | |
Squamous |
0002860 | |
Syncope |
Fainting spell
|
0001279 |
Tracheomalacia |
Floppy windpipe
|
0002779 |
Cause
Treatment
About 20% of people with RRP will need adjuvant therapies—therapies that are used in addition to surgery. These include antiviral and anti-tumor medications. The HPV vaccine helps to prevent infection and spread of the
Specialists who may be involved in the care of someone with RRP include:
Otolaryngologist (ENT doctor)Pulmonologist (lung specialist)- Surgeon
Infectious disease specialist
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The differential diagnosis includes acute laryngitis, upper respiratory tract infection, asthma, bronchitis, and other benign or malignant laryngeal tumors.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
HPV Alliance
PO Box 230575
New York, NY 10023
E-mail: https://hpvalliance.org/pages/contact-us
Website: https://hpvalliance.org/ -
Recurrent Respiratory Papillomatosis Foundation (RRPF)
P.O. Box 6643
Lawrenceville, NJ 08648
Telephone: 609-530-1095
Fax: 1-866-498-7559
E-mail: [email protected]
Website: https://www.rrpf.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- The National Institute on Deafness and Other Communication Disorders (NIDCD) conducts and supports biomedical and behavioral research and research training in the normal and disordered processes of hearing, balance, smell, taste, voice, speech, and language. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Recurrent respiratory papillomatosis. Click on the link to view a sample search on this topic.
References
- Recurrent Respiratory Papillomatosis. National Organization for Rare Disorders (NORD). Updated 2019; https://rarediseases.org/rare-diseases/recurrent-respiratory-papillomatosis/.
- Fortes HR, von Ranke FM, Escuissato DL, Neto CAA, Zanetti G, et al.. Recurrent respiratory papillomatosis: A state-of-the-art review.. Respir Med. May 2017; 126:116-121. https://pubmed.ncbi.nlm.nih.gov/28427542.
- Derkay CS, Bluher AE. Update on Recurrent Respiratory Papillomatosis. Otolaryngol Clin North Am. May 2019; 52(4):669-679. https://pubmed.ncbi.nlm.nih.gov/31078306.
- Buchinsky FJ, Valentino WL, Ruszkay N, Powell E, Derkay CS, Seedat RY, Uloza V, Dikkers FG et al. Age at diagnosis, but not HPV type, is strongly associated with clinical course in recurrent respiratory papillomatosis.. PLoS One. 2019; 14(6):e0216697. https://pubmed.ncbi.nlm.nih.gov/31194767.
- Rosenberg T, Philipsen BB, Mehlum CS, Dyvrig AK, Wehberg S et al. Therapeutic Use of the Human Papillomavirus Vaccine on Recurrent Respiratory Papillomatosis: A Systematic Review and Meta-Analysis. J Infect Dis. Mar 15, 2019; 219(7):1016-1025. https://pubmed.ncbi.nlm.nih.gov/30358875.
- Ivancic R, Iqbal H, deSilva B, Pan Q, Matrka L. Current and future management of recurrent respiratory papillomatosis. Laryngoscope Investig Otolaryngol. 2018; 3(1):22-34. https://pubmed.ncbi.nlm.nih.gov/29492465.
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