What is the definition of Olmsted Syndrome?
Olmsted syndrome, also known as mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques, 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.
What are the alternative names for Olmsted Syndrome?
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques
What are the causes for Olmsted Syndrome?
Olmsted syndrome is caused by DNA variants (mutations) in the TRPV3 gene and less commonly by DNA variants in the MBTPS2 gene.
What are the symptoms for Olmsted Syndrome?
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:
- 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.
What are the current treatments for Olmsted Syndrome?
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.
Is Olmsted Syndrome an inherited disorder?
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.