Hiram Larangeira de Almeida Jr., Gabriela Rossi, Luciana Boff de Abreu, Cristina Bergamaschi, Alessandra Banaszeski da Silva, Kerstin Kutsche
Abstract
The association of microphthalmia and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females. We examined a female newborn with facial linear skin defects following the Blaschko lines. Computer tomography and ophthalmological examination confirmed bilateral microphthalmia. An interstitial microdeletion at Xp22.2, encompassing the entire HCCS gene, was identified. Dermatoscopic examination showed erythematous linear areas with telangectasias and absence of sebaceous glands, which appear as brilliant white dots. Vellus hairs were also absent in the red areas. Dermatoscopy could help to establish the diagnosis of MLS/MIDAS syndrome by confirming the aplastic nature of the lesions.
Pharmacology, Toxicology and Pharmaceutical Science
1
11%
Unknown
3
33%
Attention Score in Context
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 11 March 2014.
All research outputs
#20,435,228
of 25,986,827 outputs
Outputs from Anais Brasileiros de Dermatologia
#6
of 6 outputs
Outputs of similar age
#236,948
of 321,766 outputs
Outputs of similar age from Anais Brasileiros de Dermatologia
#8
of 10 outputs
Altmetric has tracked 25,986,827 research outputs across all sources so far. This one is in the 18th percentile – i.e., 18% of other outputs scored the same or lower than it.
So far Altmetric has tracked 6 research outputs from this source. They receive a mean Attention Score of 1.6. This one scored the same or higher as 0 of them.
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We're also able to compare this research output to 10 others from the same source and published within six weeks on either side of this one. This one has scored higher than 2 of them.
