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Olmsted syndrome: clinical, molecular and therapeutic aspects

Overview of attention for article published in Orphanet Journal of Rare Diseases, March 2015
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (85th percentile)

Mentioned by

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1 news outlet
twitter
3 tweeters

Citations

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59 Dimensions

Readers on

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58 Mendeley
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Title
Olmsted syndrome: clinical, molecular and therapeutic aspects
Published in
Orphanet Journal of Rare Diseases, March 2015
DOI 10.1186/s13023-015-0246-5
Pubmed ID
Authors

Sabine Duchatelet, Alain Hovnanian

Abstract

Olmsted syndrome (OS) is a rare genodermatosis classically characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma (PPK) and periorificial keratotic plaques, but which shows considerable clinical heterogeneity. The disease starts usually at birth or in early childhood. About 73 cases have been reported worldwide. OS is observed in both sexes, although male cases are more frequent. The most suggestive symptoms associate PPK with pseudoainhum and periorificial keratotic plaques. Frequently associated features include hair and nail abnormalities, leukokeratosis, corneal default and recurrent infections. Pain and itching are variable but can be severe. Most of reported OS cases are sporadic, although familial cases with different mode of inheritance were also described. Mutations in TRPV3 (Transient receptor potential vanilloid-3) gene have recently been identified as a cause of autosomal dominant (gain-of-function mutations) or recessive OS. Mutations in MBTPS2 (membrane-bound transcription factor protease, site 2) gene were identified in a recessive X-linked form. The diagnosis relies mainly on clinical features associating severe PPK and periorificial keratotic plaques, but can be challenging in patients with incomplete phenotype or atypical features. OS has to be differentiated from other severe forms of PPK including Vohwinkel, Clouston, Papillon-Lefèvre or Haim-Munk syndromes, Mal de Meleda, pachyonychia congenita, Tyrosinemia type II and acrodermatitis enteropathica. When differential diagnoses are difficult to exclude, genetic studies are essential to search for a TRPV3 or MBTPS2 mutation. However, additional genes remain to be identified. No specific and satisfactory therapy is currently available for OS. Current treatments of hyperkeratosis (mainly emollients, keratolytics, retinoids or corticosteroids), either topical or systemic, are symptomatic and offer only temporary partial relief. Specific management of pain and itching is important to reduce the morbidity of the disease. The disease is debilitating and progressive keratoderma and auto-amputation of digits can prevent patients from grasping and walking, and confine them to a wheelchair. New therapeutic options are therefore crucial and are expected from a better understanding of the disease mechanisms. The use of TRPV3 antagonists would represent such a targeted and potentially powerful strategy.

Twitter Demographics

The data shown below were collected from the profiles of 3 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 58 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 2%
Unknown 57 98%

Demographic breakdown

Readers by professional status Count As %
Student > Master 9 16%
Student > Postgraduate 9 16%
Other 8 14%
Researcher 6 10%
Student > Doctoral Student 5 9%
Other 12 21%
Unknown 9 16%
Readers by discipline Count As %
Medicine and Dentistry 24 41%
Agricultural and Biological Sciences 6 10%
Biochemistry, Genetics and Molecular Biology 3 5%
Pharmacology, Toxicology and Pharmaceutical Science 3 5%
Nursing and Health Professions 3 5%
Other 9 16%
Unknown 10 17%

Attention Score in Context

This research output has an Altmetric Attention Score of 11. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 02 January 2020.
All research outputs
#2,313,512
of 19,174,303 outputs
Outputs from Orphanet Journal of Rare Diseases
#283
of 2,074 outputs
Outputs of similar age
#39,348
of 273,651 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#1
of 1 outputs
Altmetric has tracked 19,174,303 research outputs across all sources so far. Compared to these this one has done well and is in the 87th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,074 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one has done well, scoring higher than 86% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 273,651 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 85% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them