Rare Gastroenterology News

Disease Profile

Yellow nail syndrome

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

Adult

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ICD-10

L60.5

Inheritance

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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Lymphedema with yellow nails; YNS

Categories

Blood Diseases; Congenital and Genetic Diseases; Lung Diseases;

Summary

Yellow nail syndrome is a very rare disorder characterized by three features: yellow nail discoloration, respiratory problems, and lower limb swelling (lymphedema). It usually occurs in people over age 50, but can occur in younger people.[1] In addition to being yellow, nails may lack a cuticle, grow very slowly, and become detached (onycholysis).[2] Respiratory problems may include chronic cough, bronchiectasis, and pleural effusion.[1] Chronic sinusitis may also occur.[1] The cause of yellow nail syndrome remains unknown. It usually occurs on its own, but is sometimes associated with autoimmune disease, lymphatic diseases, or cancers. Some researchers have hypothesized that titanium may play a role in the development of yellow nail syndrome (for example, in dental or joint implants or other environmental exposures). Treatment addresses each symptom present. In some cases, yellow nail syndrome goes away on its own.[1]

Symptoms

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
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Fingernail dysplasia
Abnormal fingernail development
0100798
Hypoplasia of lymphatic vessels
Underdeveloped lymphatic vessels
0003759
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Toenail dysplasia
Abnormal toenail development
0100797
Yellow nails
0011367
30%-79% of people have these symptoms
Cough
Coughing
0012735
Dyspnea
Trouble breathing
0002094
Pleuritis
Inflammation of tissues lining lungs and chest
0002102
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Rhinitis
Nasal inflammation
0012384
Sinusitis
Sinus inflammation
0000246
5%-29% of people have these symptoms
Biliary tract neoplasm
0100574
Generalized abnormality of skin
Generalised abnormality of skin
0011354
Immunodeficiency
Decreased immune function
0002721
Neoplasm of the lung
Lung tumor
0100526
Nephropathy
0000112
Onycholysis
Detachment of nail
0001806
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Renal neoplasm
Renal tumors
0009726
Sarcoma
Cancer of connective tissue
Malignant connective tissue tumor

[ more ]

0100242
Percent of people who have these symptoms is not available through HPO
Abnormality of the musculature
Muscular abnormality
0003011
Autosomal dominant inheritance
0000006
Predominantly lower limb lymphedema
0003550
Slow-growing nails
0008383

Cause

The exact cause of yellow nail syndrome remains unknown. Lymphatic impairment or reduced lymphatic drainage has been proposed, as it may explain lymphedema, pleural effusion, and nail discoloration. However, problems with the lymphatic system are not known to cause bronchiectasia and sinusitis. Additionally, lymphatic impairment is not easy to confirm.[1]

While most cases of yellow nail syndrome occur randomly, a few cases have run in families. Although this suggests that genetic factors may play a role in some cases, no known genetic factors have been identified.[2]

Rarely, yellow nail syndrome has occurred in people with autoimmune disease, lymphatic diseases, or cancers. Some researchers have hypothesized that titanium exposure may play a role in the development of yellow nail syndrome in some people (for example, in dental or joint implants; drugs that contain titanium dioxide; candy or gum; or other environmental exposures).[1][3][4] However, a direct association between titanium exposure and yellow nail syndrome has not been confirmed.[4]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Treatment

    Yellow nail syndrome management aims to address each of the symptoms. Treatment for nail discoloration may include oral vitamin E and/or triazole antifungals. Pleural effusion may be treated with surgery. Antibiotic prophylaxis may be prescribed for bronchiectasia with chronic mucus production. Lymphedema treatment may involve low-stretch bandages and elastic compression garments combined with skin care, exercises and manual lymph drainage as needed.[1]

    In some cases, yellow nail syndrome goes away on its own or when an underlying, associated condition is treated.[1]

    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

      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.

        Where to Start

        • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about 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.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • 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 Yellow nail syndrome. Click on the link to view a sample search on this topic.

            References

            1. Vignes S and Baran R. Yellow nail syndrome: a review. Orphanet J Rare Dis. February, 2017; 12:42:https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0594-4.
            2. Yellow Nail Syndrome. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/yellow-nail-syndrome/.
            3. Berglund F, Carlmark B. Titanium, Sinusitis, and the Yellow Nail Syndrome. Biol Trace Elem Res. October, 2011; 143(1):1-7. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3176400/.
            4. Decker A, Daly D, Scher RK. Role of Titanium in the Development of Yellow Nail Syndrome. Skin Appendage Disord. March, 2015; 1(1):28-30. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4857837/.

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