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Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

Overview of attention for article published in Orphanet Journal of Rare Diseases, November 2008
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (91st percentile)
  • Above-average Attention Score compared to outputs of the same age and source (62nd percentile)

Mentioned by

news
1 news outlet
wikipedia
4 Wikipedia pages

Citations

dimensions_citation
372 Dimensions

Readers on

mendeley
259 Mendeley
citeulike
1 CiteULike
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Title
Nevoid basal cell carcinoma syndrome (Gorlin syndrome)
Published in
Orphanet Journal of Rare Diseases, November 2008
DOI 10.1186/1750-1172-3-32
Pubmed ID
Authors

Lorenzo Lo Muzio

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5-10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic therapy and topical chemotherapy. Radiotherapy should be avoided. Vitamin A analogs may play a preventive role against development of new BCCs. Life expectancy in NBCCS is not significantly altered but morbidity from complications can be substantial. Regular follow-up by a multi-specialist team (dermatologist, neurologist and odontologist) should be offered. Patients with NBCCS should strictly avoid an excessive sun exposure.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 259 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Canada 2 <1%
France 1 <1%
Brazil 1 <1%
Germany 1 <1%
United Kingdom 1 <1%
India 1 <1%
Spain 1 <1%
United States 1 <1%
Unknown 250 97%

Demographic breakdown

Readers by professional status Count As %
Student > Master 30 12%
Researcher 27 10%
Student > Bachelor 27 10%
Student > Postgraduate 25 10%
Student > Doctoral Student 22 8%
Other 65 25%
Unknown 63 24%
Readers by discipline Count As %
Medicine and Dentistry 136 53%
Biochemistry, Genetics and Molecular Biology 22 8%
Agricultural and Biological Sciences 21 8%
Neuroscience 5 2%
Arts and Humanities 3 1%
Other 8 3%
Unknown 64 25%
Attention Score in Context

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 21 June 2023.
All research outputs
#2,897,061
of 23,921,147 outputs
Outputs from Orphanet Journal of Rare Diseases
#399
of 2,782 outputs
Outputs of similar age
#13,794
of 170,743 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#4
of 8 outputs
Altmetric has tracked 23,921,147 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 2,782 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.0. This one has done well, scoring higher than 85% 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 170,743 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 91% of its contemporaries.
We're also able to compare this research output to 8 others from the same source and published within six weeks on either side of this one. This one has scored higher than 4 of them.