Rare Pulmonology News

Disease Profile

Aquagenic pruritus

Prevalence
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.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

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

no.svg

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.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Summary

Aquagenic pruritus causes intense itching without any visible skin changes after contact with water of any temperature. The symptoms may begin immediately after contact and can last for an hour or more.[1] The cause of aquagenic pruritus is unknown; however, familial cases have been described.[1][2] Aquagenic pruritis is sometimes a symptom of other conditions such as polycythemia vera. Diagnosis is based on the symptoms and a clinical examination. Overall, treatment is a challenge. Skin creams, antihistamines, phototherapy, changing the pH of the water, and various medications have been tried with varying degrees of success.[1]

Symptoms

Aquagenic pruritus causes intense itching in the parts of the body that come in contact with water.[1] The legs are most frequently affected, followed by the arms, chest, back, and abdomen. More rarely, the head, neck, face and hips may be affected. The palms, soles, and mucosa are usually not affected.[1] Because aquagenic pruritus may be one symptom of polycythemia vera or another condition, it is important to look for problems in other parts of the body to rule out other conditions.[3]

Cause

The underlying cause of aquagenic pruritus is unknown. In some cases, it is a symptom of polycythemia vera or another underlying condition. Aquagenic pruritus may precede a diagnosis of polycythemia vera by several years or more.[4] Other conditions associated with aquagenic pruritus include myeloproliferative neoplasms or myelodysplastic syndromeshypereosinophilic syndrome, and juvenile xanthogranuloma.[1][5] Lactose intolerance and hepatitis C may also induce aquagenic pruritus.

Drug-induced aquagenic pruritus has been reported in patients treated with clomipramine (a tricyclic antidepressant), bupropion (prescribed for smoking cessation), and hydroxychloroquine and chloroquine (antimalarial drugs also used for rheumatoid arthritis and lupus).[6]

Possible underlying causes of aquagenic pruritus that have been proposed include:

  • increased mast cell degranulation release of granules rich in histamine and other compounds into the body by mast cells, a special type of cell that plays a role in the immune system
  • increased circulating histamine
  • release of acetylcholine a chemical in the body which sends signals from nerves to muscles and between nerves in the brain
  • increased skin fibrinolytic activity activity that controls clot size by promoting the breakdown of clots[1][2]

Diagnosis

There is no specific exam that confirms a diagnosis of aquagenic pruritus. The diagnosis is generally made by ruling out other conditions. The following criteria may help to make the diagnosis:[3]

  • Severe itching (may be the only symptom), prickling, stinging, or burning that consistently develops after skin contact with water, regardless of water temperature or salinity
  • Lack of visible skin manifestations
  • Reaction within minutes of exposure and lasting anywhere between 10 minutes to 2 hours
  • Lack of another skin disease, underlying condition, or medication to account for the reaction
  • Exclusion of all physical urticarias, symptomatic dermographism, and polycythemia vera, as well as other diseases that my have aquagenic pruritus as a symptom.

Treatment

There is no single treatment for aquagenic pruritis. The following treatments have been used with varying degrees of success. Sometimes people need to try several different treatments before one works.[1][2]

  • Using baby oil or other hydrophobic emollients (skin softeners that repel water) before and/or after showering[7][8]
  • Adding sodium bicarbonate to bath water
  • Antihistamines[7]
  • Analgesics (pain relievers)[7]
  • Opioid receptor antagonists naltrexone[7]
  • Alpha interferon 2b[7]
  • Cholestyramine (used for lowering cholesterol)[7]
  • Clonidine (used for high blood pressure)[7]
  • Topical capsaicin cream[2][7][9]
  • Selective serotonin reuptake inhibitors[2][7]
  • Different types of phototherapy (may be up to 50% effective)[10]
  • Beta-blockers (propranolol, atenolol)[2][7]
  • Triamcinolone (corticosteroid)[10]
  • Transcutaneous electrical nerve stimulation[10]
  • Use of tight-fitting Lycra clothing[10]
  • Omalizumab[11]
  • B-alanine supplements[12]

People with questions about the management of aquagenic pruritus should speak with their doctor about available treatment options.

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.

Social Networking Websites

    Organizations Providing General Support

      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.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Aquagenic pruritus. Click on the link to view a sample search on this topic.

        References

        1. Sekar CS, Srinivas CR & Jacob S. Aquagenic pruritus: beneath water "lies". Indian J Dermatol. 2011 Jul; 56(4):446-7. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179019/.
        2. Cao T, Yong AA, Tan KB, Tey HL. Idiopathic aquagenic pruritus: pathogenesis and effective treatment with atenolol.. Dermatol Ther. 2015 May-Jun; 28(3):118-21. https://www.ncbi.nlm.nih.gov/pubmed/25640024.
        3. Hamie L, Abou-Rahal J. Water-related dermatoses. Int J Dermatol. May 2019; 58(5):515-529. https://pubmed.ncbi.nlm.nih.gov/30506676/.
        4. Sara B Fazio, Gil Yosipovitch. Pruritus: Etiology and patient evaluation. UpToDate. Waltham, MA: UpToDate; October, 2016;
        5. Le Gall-Ianotto C et al. Clinical characteristics of aquagenic pruritus in patients with myeloproliferative neoplasms. Br J Dermatol. June 13, 2016;
        6. Pongpairoj K, Saha M, Greaves M. Antimalarial drug-induced aquagenic pruritus. J Eur Acad Dermatol Venereol. July 16, 2016;
        7. Wang F, Zhao YK, Luo ZY, Gao Q, Wu W, Sarkar R, Luo DQ. Aquagenic cutaneous disorders. J Dtsch Dermatol Ges. June, 2017; 15(6):602-608. https://www.ncbi.nlm.nih.gov/pubmed/28513988.
        8. Misery L. Aquadynia and Aquagenic Pruritus. Pruritus. London: Springer; 2010; 138.
        9. Sara B Fazio, Gil Yosipovitch. Pruritus: Overview of management. UpToDate. Waltham, MA: UpToDate; October, 2016;
        10. Morgado-Carrasco D, Riera-Monroig J, Feola H, Aguilera P. Treatment of 2 Patients With Aquagenic Pruritus With UVA/Narrow Band UVB Combined Therapy Once a Year. Actas Dermosifiliogr. Dec 2020; 111(10):889-892. https://pubmed.ncbi.nlm.nih.gov/32679119/.
        11. Murphy B, Duffin M, Tolland J. Aquagenic pruritus successfully treated with omalizumab. Clin Exp Dermatol. Oct 2018; 43(7):858-859. https://pubmed.ncbi.nlm.nih.gov/29450908/.
        12. Friedlander MSH, Admani S. Aquagenic pruritus in an adolescent effectively managed with ß-alanine supplementation.. Pediatr Dermatol. Nov 10, 2020; epub ahead of print:https://pubmed.ncbi.nlm.nih.gov/33170524/.

        Rare Pulmonology News