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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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  • Good Attention Score compared to outputs of the same age (73rd percentile)
  • High Attention Score compared to outputs of the same age and source (93rd percentile)

Mentioned by

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1 tweeter
wikipedia
4 Wikipedia pages

Citations

dimensions_citation
332 Dimensions

Readers on

mendeley
230 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.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter 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 230 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 221 96%

Demographic breakdown

Readers by professional status Count As %
Student > Master 30 13%
Researcher 27 12%
Student > Bachelor 27 12%
Student > Postgraduate 26 11%
Student > Doctoral Student 21 9%
Other 60 26%
Unknown 39 17%
Readers by discipline Count As %
Medicine and Dentistry 133 58%
Agricultural and Biological Sciences 22 10%
Biochemistry, Genetics and Molecular Biology 20 9%
Neuroscience 5 2%
Arts and Humanities 3 1%
Other 8 3%
Unknown 39 17%

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 13 December 2021.
All research outputs
#5,943,133
of 21,321,698 outputs
Outputs from Orphanet Journal of Rare Diseases
#804
of 2,380 outputs
Outputs of similar age
#95,554
of 369,250 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#2
of 16 outputs
Altmetric has tracked 21,321,698 research outputs across all sources so far. This one has received more attention than most of these and is in the 70th percentile.
So far Altmetric has tracked 2,380 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.3. This one has gotten more attention than average, scoring higher than 64% 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 369,250 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 73% of its contemporaries.
We're also able to compare this research output to 16 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 93% of its contemporaries.