Olmsted syndrome is a rare condition in which a palmoplantar keratoderma is associated with periorificial keratotic plaques and scattered keratotic papules.
- Various mutations have been found [JAMADerm March 2014;303]. The cause has been identified as a mutation in the gene for TRPV3 (transient receptor potential vanilloid 3), although an X-linked variety of OS-like syndrome has been shown to result from mutations in MBTPS2 (membrane-bound transcription factor protease site 2).
- It may present with erythema around the orifices which later develop keratotic papules.
- Onset is usually infancy.
- The PPK is transgredient. Linear keratoderma may be seen.
- Progression to mutilating flexion contractures of digits and autoamputation may occur.
There is a red, scaly periorificial rash along with a mutilating keratoderma. There may be nail dystrophy and scattered keratotic papules. Other potential findings include alopecia, oral leukokeratoses, onychodystrophy, shortness of stature and laxity of the large joints. Cutaneous malignancies have been seen including plantar squamous cell carcinoma and epithelioma cuniculatum.
Olmsted syndrome: Rare occurrence in four siblings. Indian J Dermatol 2016;61:347
Indian J Dermatol 2008;53:93-5
Case Reports in Dermatologic Medicine
Indian J Dermatol 2011;56:591-3
Homepage | FAQs | Contact Dr. White
It is not the intention of RegionalDerm.com to provide specific medical advice, diagnosis or treatment. RegionalDerm.com only intends to provide users with information regarding various medical conditions for educational purposes and will not provide specific medical advice. Information on RegionalDerm.com is not intended as a substitute for seeking medical treatment and you should always seek the advice of a qualified healthcare provider for diagnosis and for answers to your individual questions. Information contained on RegionalDerm.com should never cause you to disregard professional medical advice or delay seeking treatment. If you live in the United States and believe you are having a medical emergency call 911 immediately.