research Olmsted Syndrome: A Rare Keratinization Disorder
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
Search
forLearn
0 / 0 results — no results
Research
5 / 113 resultsresearch Hypotrichosis in a Child with Olmsted Syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
The study identified a homozygous recessive mutation in the TRPV3 gene, specifically c.1562G>C, as a cause of a severe form of Olmsted syndrome (OS) in a 2-year-old patient of Arab Muslim origin. This mutation was associated with symptoms like painful palmoplantar keratoderma and hyperkeratotic plaques. It was not found in 250 healthy individuals or in large genetic databases, indicating its rarity and potential pathogenicity. The study concluded that OS could be inherited as an autosomal recessive trait, in addition to the previously known dominant and X-linked recessive patterns, thus broadening the understanding of its genetic basis.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Index
The document is a detailed medical reference on skin and genetic disorders.
Community Join
0 / 0 results — no results