Pathogenesis and Management of TRPV3-Related Olmsted Syndrome

December 2024 in “ Frontiers in Genetics ”

Aobo Lu, Kezhen Li, Cong Huang, Bo Yu, Weilong Zhong

TRPV3 Olmsted syndrome hyperkeratosis dermatitis hair loss EGFR inhibitors mTOR inhibitors erlotinib sirolimus keratinocyte apoptosis calcium overload TRPV3 antagonists epidermal growth factor receptor inhibitors mammalian target of rapamycin inhibitors

Studysummary This review discusses the genetic causes and pathogenesis of Olmsted syndrome, emphasizing the potential for a genotype-phenotype correlation due to TRPV3 mutations, and explores avenues for individualized treatment developments for this condition.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

Olmsted syndrome (OS) is a rare skin disorder caused by mutations in the TRPV3 gene, leading to symptoms such as hyperkeratosis, dermatitis, hair loss, itching, and pain. The review discusses the role of TRPV3 mutations in OS, highlighting that these mutations increase channel activity, causing calcium overload and keratinocyte apoptosis. Traditional treatments offer limited relief, but EGFR and mTOR inhibitors, like erlotinib and sirolimus, show promise in managing symptoms by targeting molecular pathways. Additionally, TRPV3 antagonists and certain herbal extracts may alleviate symptoms, though their low selectivity limits reliability. Further research is needed to develop more effective and individualized treatments.

View this study on frontiersin.org →

Discuss this study in the Community →

Research cited in this study

8 / 8 results

research Structural Mechanism of TRPV3 Channel Inhibition by the Plant-Derived Coumarin Osthole

28 citations , September 2021 in “EMBO reports”

In this study, researchers used cryo-electron microscopy to reveal how the natural compound osthole inhibits TRPV3 channels by binding to specific sites, changing the channel's conformation.

research Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes

11 citations , March 2021 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study found that hair loss in an Olmsted syndrome mouse model with a Trpv3 mutation was linked to premature keratinocyte maturation, affecting hair follicle structure and function.

Pharmacological Activation of Thermo-Transient Receptor Potential Vanilloid 3 Channels Inhibits Hair Growth by Inducing Cell Death of Hair Follicle Outer Root Sheath

research Pharmacological Activation of Thermo-Transient Receptor Potential Vanilloid 3 Channels Inhibits Hair Growth by Inducing Cell Death of Hair Follicle Outer Root Sheath

12 citations , June 2019 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics”

This study found that inhibiting the TRPV3 channel may significantly promote hair growth and suggests a potential therapeutic approach for hair loss and related skin diseases.

research Activation of TRPV3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes

77 citations , September 2017 in “Journal of Investigative Dermatology”

This study found that TRPV3 ion channels on human epidermal keratinocytes suppress cell proliferation, induce cell death, and trigger a proinflammatory response, suggesting a role in cutaneous inflammatory processes.

research Expanding The Phenotypic Spectrum Of Olmsted Syndrome

27 citations , June 2015 in “Journal of Investigative Dermatology”

This study found that mutations in the TRPV3 gene can cause a broader range of symptoms in Olmsted syndrome than previously recognized, including severe palmoplantar keratoderma without other classic features.

research TRPV3 as a Therapeutic Target for Itch

88 citations , April 2012 in “Journal of Investigative Dermatology”

This study suggests that TRPV3 may play a key role in dry skin-related itch, indicating potential for TRPV3 antagonists in treating pruritus resistant to histamine H1R antagonists.

research Activation of Transient Receptor Potential Vanilloid-3 Inhibits Human Hair Growth

105 citations , May 2011 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study found that activation of the TRPV3 ion channel inhibits human hair growth by affecting hair follicles and outer root sheath keratinocytes.

research Influence of TRPV3 Mutation on Hair Growth Cycle in Mice

59 citations , September 2007 in “Biochemical and Biophysical Research Communications”

This study found that a gain-of-function mutation in the TRPV3 channel leads to altered hair development in DS-Nh mice by affecting the anagen and telogen phases, highlighting TRPV3's role in hair growth regulation.