Olmsted Syndrome
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Olmsted Syndrome Overview

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Learn About Olmsted Syndrome

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.
What are the alternative names for Olmsted Syndrome?
  • Olmsted syndrome
  • Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Who are the top Olmsted Syndrome Local Doctors?
Elite in Olmsted Syndrome
Alain A. Hovnanian
Elite in Olmsted Syndrome
Alain A. Hovnanian
Paris, FR 

Alain Hovnanian practices practicing medicine in Paris, France. Mr. Hovnanian is rated as an Elite expert by MediFind in the treatment of Olmsted Syndrome. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Netherton Syndrome, Olmsted Syndrome, Dystrophic Epidermolysis Bullosa, and Epidermolysis Bullosa.

Experienced in Olmsted Syndrome
Dr. Jessica W. Galvin
Dermatology
Experienced in Olmsted Syndrome
Dr. Jessica W. Galvin
Dermatology

Clear Dermatology LLC

4906 Penn Ave, Ste 202, 
Sinking Spring, PA 
610-484-3761
Languages Spoken:
English
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. Dr. Galvin is rated as an Experienced provider by MediFind in the treatment of Olmsted Syndrome. Her clinical expertise encompasses Pityriasis Lichenoides Et Varioliformis Acuta, Pityriasis Lichenoides, Actinic Keratosis, and Graham-Little-Piccardi-Lassueur Syndrome. Dr. Galvin is board certified in American Osteopathic Board Of Dermatology.

 
 
 
 
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Experienced in Olmsted Syndrome
Dr. Alix J. Charles
Dermatology
Experienced in Olmsted Syndrome
Dr. Alix J. Charles
Dermatology
2155 City Gate Lane, Suite 225, 
Naperville, IL 
630-547-5040
Experience:
26+ years
Languages Spoken:
English, French, Haitian Creole, Spanish
See accepted insurances
Offers Telehealth

Early in my training at the Mayo Clinic I was taught that the interest of the patient is the only interest to be considered. With that as my guiding principle, I strive to create a warm and trusting relationship with my patients so they may feel at ease discussing their skin care issues with me. I believe strongly in educating patients on how best they can be in control of their own outcomes; they are the ones who live day to day in their own skin and I need them to help with their care plan! Lastly, I try to administer a healthy dose of laughter with each prescription or procedure as I've found this helps my patients get better more quickly. Dr. Charles is rated as an Experienced provider by MediFind in the treatment of Olmsted Syndrome. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Seborrheic Keratosis, Warts, Actinic Keratosis, and Psoriasis. Dr. Charles is board certified in Dermatology.

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What are the latest Olmsted Syndrome Clinical Trials?
A Combined Single and Multiple Ascending Dose Phase 1a/1b, Double-blind, Placebo-Controlled, and Food-effect Study to Evaluate the Safety and Pharmacokinetics of Oral KM-023 in Healthy Participants. Followed by a 3-month Open Label Study to Evaluate the Safety, Pharmacokinetics and Efficacy of Oral KM-023 in Olmsted Syndrome Patients
A Combined Single and Multiple Ascending Dose Phase 1a/1b, Double-blind, Placebo-Controlled, and Food-effect Study to Evaluate the Safety and Pharmacokinetics of Oral KM-023 in Healthy Participants. Followed by a 3-month Open Label Study to Evaluate the Safety, Pharmacokinetics and Efficacy of Oral KM-023 in Olmsted Syndrome Patients
Enrollment Status: Recruiting
Publish Date: July 29, 2025
Intervention Type: Drug
Study Phase: Phase 1

Summary: The trial is conducted in order to assess the safety of KM-023 and to observe what effects, both beneficial and adverse, it has on the body, and the way the body absorbs and eliminates KM-023, first in healthy participants, then in Olmsted Syndrome patients. In addition, the study will examine the presence of KM-023 in the different layers of the skin. Finally, the efficacy of KM-023 will be inves...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center