Olmsted syndrome

Alternate names

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

Definition

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.

Epidemiology

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.

Cause

Olmsted syndrome is caused by DNA variants (mutations) in the TRPV3 gene and less commonly by DNA variants in the MBTPS2 gene.

Inheritance

• 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

Signs and symptoms

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.

Clinical presentation

80%-99% of people have these symptoms

• Abnormal fingernail morphology(Abnormal fingernails)
• Anhidrosis(Lack of sweating)
• Ankylosis
• Erythema
• Palmoplantar hyperhidrosis(Excessive sweating of palms and soles)
• Palmoplantar keratoderma(Thickening of palms and soles)
• Skin fissure(Cracked skin)
• Sparse hair

30%-79% of people have these symptoms

• Carious teeth(Dental cavities)
• Hypodontia(Failure of development of between one and six teeth)
• Sensorineural hearing impairment
• Skin ulcer(Open skin sore)

5%-29% of people have these symptoms

• Abnormality of the gingiva(Abnormality of the gums)
• Abnormality of the tongue(Abnormal tongue)
• Alopecia(Hair loss)
• Alopecia universalis
• Hyperhidrosis(Excessive sweating)
• Melanoma
• Neoplasm of the lung(Lung tumor)
• Neoplasm of the skin(Skin tumors)
• Opacification of the corneal stroma
• Osteolysis(Breakdown of bone)
• Seizure

Diagnosis

• 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.

Treatment

• 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.

NIH genetic and rare disease info

• NIH info on Olmsted syndrome

Olmsted syndrome is a rare disease.

Olmsted syndrome Resources
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