National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Olmsted syndrome

Olmsted syndrome is a very rare congenital (present from birth) disorder causing abnormal growth and thickening of skin. The most common affected areas are the palms of the hand, the soles of the feet, and the area around the eyes and mouth. Other symptoms include sparse hair and abnormal nails, joint abnormalities, pain, and itching. The abnormal skin thickening in Olmsted syndrome tends to get worse over time. People with this condition are at increased risk for infections and for skin cancer. Olmsted syndrome is caused by genetic changes (DNA variants) in the TRPV3 and the MBTPS2  gene. Many different forms of inheritance have been reported, although many cases of Olmsted syndrome are sporadic (a new case in a family). Diagnosis is based on the symptoms, and genetic testing can be helpful. Treatment includes oral and topical retinoids and steroids. Newer medications used to treat cancer are under investigation.[1][2][3]
Last updated: 5/1/2020
The following list includes the most common signs and symptoms in people with Olmsted syndrome. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list also does not include every symptom or feature that has been described in this condition. 

Signs and symptoms may include:[1][2]
  • Thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma)
  • Abnormal growths around the mouth, nose, eyes, ears and genital areas (periorificial keratotic plaques)
  • Skin fissures
  • Pain and itching
  • Abnormal hair growth
  • Nail abnormalities
  • Sweating abnormalities
The symptoms of Olmsted syndrome vary greatly from person to person.  In general, the skin symptoms tend to get worse over time and can lead to difficulty walking, joint constrictions, and an increased risk for infections. People with Olmsted syndrome are at increased risk for skin cancer in the areas of skin thickening.[2] 
Last updated: 5/1/2020

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.

Showing of 30 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails
[ more ] 		0001231
Anhidrosis
Lack of sweating
Sweating dysfunction
[ more ] 		0000970
Ankylosis 0031013
Erythema 0010783
Palmoplantar hyperhidrosis
Excessive sweating of palms and soles
0007410
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Skin fissure
Cracked skin
0031057
Sparse hair 0008070
30%-79% of people have these symptoms
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ] 		0000670
Hypodontia
Failure of development of between one and six teeth
0000668
Sensorineural hearing impairment 0000407
Skin ulcer
Open skin sore
0200042
5%-29% of people have these symptoms
Abnormality of the gingiva
Abnormality of the gums
0000168
Abnormality of the tongue
Abnormal tongue
Tongue abnormality
[ more ] 		0000157
Alopecia
Hair loss
0001596
Alopecia universalis 0002289
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] 		0000975
Melanoma 0002861
Neoplasm of the lung
Lung tumor
0100526
Neoplasm of the skin
Skin tumors
Tumor of the skin
[ more ] 		0008069
Opacification of the corneal stroma 0007759
Osteolysis
Breakdown of bone
0002797
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Flexion contracture
Flexed joint that cannot be straightened
0001371
Nail dysplasia
Atypical nail growth
0002164
Nail dystrophy
Poor nail formation
0008404
Parakeratosis 0001036
Pruritus
Itching
Itchy skin
Skin itching
[ more ] 		0000989
Subungual hyperkeratosis
Thickened, discolored skin under nail
0008392
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Last updated: 7/1/2020
Olmsted syndrome is caused by DNA variants (mutations) in the TRPV3 gene and less commonly by DNA variants in the MBTPS2 gene.[2]
Last updated: 5/1/2020
Most cases of Olmsted syndrome are sporadic and are not inherited in families.  Olmsted syndrome has also been reported in some families with autosomal dominant, autosomal recessive and X-linked recessive inheritance patterns.[1][2]
Last updated: 5/1/2020
Olmsted syndrome is diagnosed based on a clinical examination and the symptoms. It is usually diagnosed in early childhood when symptoms become more obvious. Genetic testing can be helpful for diagnosis as well.[1][2][4]
Last updated: 5/1/2020

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.
There is no cure for Olmsted syndrome. Treatment is based on managing the symptoms. The skin symptoms in Olmsted syndrome are difficult to treat. Specific types of medications including steroids and retinoids are sometimes helpful, and other medications are currently being studied.[2][3][5] 
Last updated: 5/1/2020
Olmsted syndrome is very rare.  Less than 75 cases have been reported in the literature. It is thought that the incidence is less than 1 in 1,000,000 people.[2]
Last updated: 5/1/2020

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

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

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

  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Wilson NJ, Cole C, Milstone LM, Kiszewski AE, Hansen CD et al. Expanding the Phenotypic Spectrum of Olmsted Syndrome. J Invest Dermatol. 2015; 135(11):2879-2883. https://pubmed.ncbi.nlm.nih.gov/26067147.
  2. Duchatelet S, Hovnanian A. Olmsted syndrome: clinical, molecular and therapeutic aspects. Orphanet J Rare Dis. 2015; 10:33. https://pubmed.ncbi.nlm.nih.gov/25886873.
  3. Greco C, Leclerc-Mercier S, Chaumon S, Doz F, Hadj-Rabia S et al. Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations. JAMA Dermatol. Jan 2020; 156(2):191-195. https://pubmed.ncbi.nlm.nih.gov/31895432.
  4. Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques. Online Mendelian Inheritance in Man (OMIM). Updated 5/29/2015; http://omim.org/entry/614594.
  5. Zhang A, Duchatelet S, Lakdawala N, Tower RL, Diamond C et al.. Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome. JAMA Dermatol. 2020; 156(2):196-200. https://pubmed.ncbi.nlm.nih.gov/31895414.