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?
Advanced in Olmsted Syndrome
Dr. Marina Bravin
Dermatology
Advanced in Olmsted Syndrome
Dr. Marina Bravin
Dermatology
Referral may be required

Bassett Oneonta Specialty Services

1 Associate Drive, 
Oneonta, NY 
607-547-6542
Languages Spoken:
English
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Marina Bravin is a Dermatologist practicing medicine in Oneonta, New York. Dr. Bravin is rated as an Advanced provider by MediFind in the treatment of Olmsted Syndrome. She is also highly rated in 59 other conditions, according to our data. Her clinical expertise encompasses Actinic Keratosis, Melanoma, Warts, and Psoriasis. Dr. Bravin is board certified in Internal Medicine, American Board Of Internal Medicine.

Elite in Olmsted Syndrome
Alain A. Hovnanian
Elite in Olmsted Syndrome
Alain A. Hovnanian
Referral may be required
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.

 
 
 
 
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Elite in Olmsted Syndrome
Sabine Duchatelet
Elite in Olmsted Syndrome
Sabine Duchatelet
Referral may be required
Paris, FR 

Sabine Duchatelet practices practicing medicine in Paris, France. Ms. Duchatelet is rated as an Elite expert by MediFind in the treatment of Olmsted Syndrome. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Judge Misch Wright Syndrome, Olmsted Syndrome, Acrokeratoelastoidosis of Costa, and Palmoplantar Keratoderma.

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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: May 22, 2026
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