Olmsted syndrome
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]
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Congenital and Genetic Diseases; Skin Diseases
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.[1][2][3]
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]
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails
Anhidrosis
Lack of sweating
Sweating dysfunction
Ankylosis
Palmoplantar hyperhidrosis
Excessive sweating of palms and soles
Palmoplantar keratoderma
Thickening of palms and soles
Skin fissure
Sparse hair
Carious teeth
Dental cavities
Tooth cavities
Hypodontia
Failure of development of between one and six teeth
Skin ulcer
Open skin sore
Abnormality of the gingiva
Abnormality of the gums
Abnormality of the tongue
Abnormal tongue
Tongue abnormality
Alopecia universalis
Profuse sweating
Sweating profusely
Sweating, increased
Neoplasm of the lung
Lung tumor
Neoplasm of the skin
Skin tumors
Tumor of the skin
Opacification of the corneal stroma
Osteolysis
Breakdown of bone
Flexion contracture
Flexed joint that cannot be straightened
Nail dysplasia
Atypical nail growth
Nail dystrophy
Poor nail formation
Parakeratosis
Skin itching
Subungual hyperkeratosis
Thickened, discolored skin under nail
Olmsted syndrome is caused by DNA variants (mutations) in the TRPV3 gene and less commonly by DNA variants in the MBTPS2 gene.[2]
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]
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]
E-mail: info@firstskinfoundation.org
Website: https://www.firstskinfoundation.org/
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.
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.
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.
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques. Online Mendelian Inheritance in Man (OMIM). Updated 5/29/2015; https://omim.org/entry/614594.
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.