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and&#44; in general&#44; recessive forms are more severe&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> The latter is usually associated with variants causing Premature Stop Codons &#40;PTC&#41;&#44; with subsequent decay or truncated polypeptides&#46; In heterozygosity&#44; PTC variants do not cause disease&#44; but compound heterozygosity with missense variants could be associated with milder forms of RDEB&#46; DDEB is generally caused by glycine substitutions&#44; but other mutations could be involved&#46; Glycine substitutions could also be inherited recessively&#44; and some specific substitutions were even associated with both RDEB and DDEB&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#8211;3</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">The severity of symptoms depends on the level of COL7A1 expression&#44; which is determined by the type and position of the pathogenic variant&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#8211;3</span></a> However&#44; genotype-phenotype correlation is not consistent and identical variants could result in different phenotypes&#44; which suggests that other factors&#44; genetic or environmental&#44; may be involved in this phenotype divergence&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;4</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">The variant presented in our patient is rare&#44; with less than 10 cases previously reported&#46; Interestingly&#44; this variant was only reported in northern parts of Portugal and Brazil&#44; which could be due to a founding effect&#44; related to the former Portuguese settlement&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">The present case contributes to the mutational spectrum associated with RDEB and to a better understanding of its clinical correlation&#46;</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Financial support</span><p id="par0030" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Authors&#8217; contributions</span><p id="par0035" class="elsevierStylePara elsevierViewall">Patr&#237;cia Amoedo&#58; Writing and editing &#40;lead&#41;&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Ana Grangeia&#58; Review &#40;support&#41;&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">L&#237;gia Peralta&#58; Review &#40;support&#41;&#46;</p><p id="par0050" class="elsevierStylePara elsevierViewall">Alberto Mota&#58; Review and final approval&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflicts of interest</span><p id="par0055" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span></span>"
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Letter - Clinical
A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant
Patrícia Amoedoa,
Corresponding author
amoedo.p.patricia@gmail.com

Corresponding author.
, Ana Grangeiab, Lígia Peraltac, Alberto Motaa,d,e
a Dermatology and Venereology Service, Centro Hospitalar Universitário de São João, Porto, Portugal
b Medical Genetics Service, Centro Hospitalar Universitário de São João, Porto, Portugal
c Neonatology Service, Centro Hospitalar Universitário de São João, Porto, Portugal
d Facudade de Medicina da Universidade do Porto, Porto, Portugal
e Centro de Investigação em Tecnologias e Serviços de Saúde, Porto, Portugal
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">A full-term male infant was born with bullae and several eroded areas&#44; mainly in the feet and the face&#44; but also affecting the trunk&#44; scalp&#44; and perineal region &#40;<a class="elsevierStyleCrossRefs" href="#fig0005">Figs&#46; 1 and 2</a>&#41;&#46; He also presented corneal opacity in the right eye with hypervascularization and hemorrhage&#46; Nails&#44; hair&#44; and mucosae were normal&#46; The patient was the first child of a healthy&#44; non-consanguineous couple with no family history of blistering skin diseases&#46; A 22 gene panel performed by Next-Generation Sequencing &#40;NGS&#41; found a pathogenic variant&#44; c&#46;325&#95;326insCG &#40;p&#46;Glu109Alafs&#42;39&#41;&#44; in homozygosity in the COL7A1 gene&#46; In the first months of life&#44; the condition worsened with new lesions on the hands and armpits and mutilating scarring of the feet&#46; Unfortunately&#44; parents declined further studies&#46; Based on clinical presentation and genetic analysis&#44; a diagnosis of Severe Recessive Dystrophic Epidermolysis Bullosa was made&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">Dystrophic Epidermolysis Bullosa &#40;DEB&#41; is an inherited skin fragility disorder&#44; characterized by blister formation in the sublamina densa&#46; It is caused by pathogenic variants in the COL7A1 gene&#44; that encodes type VII collagen&#44; responsible for a cohesive dermal-epidermal junction&#46; The inheritance pattern could be Recessive &#40;RDEB&#41; or Dominant &#40;DDEB&#41;&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2</span></a> The clinical spectrum is highly variable&#44; from generalized blistering forms&#44; with mucous involvement&#44; to mild localized ones&#44; and&#44; in general&#44; recessive forms are more severe&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> The latter is usually associated with variants causing Premature Stop Codons &#40;PTC&#41;&#44; with subsequent decay or truncated polypeptides&#46; In heterozygosity&#44; PTC variants do not cause disease&#44; but compound heterozygosity with missense variants could be associated with milder forms of RDEB&#46; DDEB is generally caused by glycine substitutions&#44; but other mutations could be involved&#46; Glycine substitutions could also be inherited recessively&#44; and some specific substitutions were even associated with both RDEB and DDEB&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#8211;3</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">The severity of symptoms depends on the level of COL7A1 expression&#44; which is determined by the type and position of the pathogenic variant&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#8211;3</span></a> However&#44; genotype-phenotype correlation is not consistent and identical variants could result in different phenotypes&#44; which suggests that other factors&#44; genetic or environmental&#44; may be involved in this phenotype divergence&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;4</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">The variant presented in our patient is rare&#44; with less than 10 cases previously reported&#46; Interestingly&#44; this variant was only reported in northern parts of Portugal and Brazil&#44; which could be due to a founding effect&#44; related to the former Portuguese settlement&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">The present case contributes to the mutational spectrum associated with RDEB and to a better understanding of its clinical correlation&#46;</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Financial support</span><p id="par0030" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Authors&#8217; contributions</span><p id="par0035" class="elsevierStylePara elsevierViewall">Patr&#237;cia Amoedo&#58; Writing and editing &#40;lead&#41;&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Ana Grangeia&#58; Review &#40;support&#41;&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">L&#237;gia Peralta&#58; Review &#40;support&#41;&#46;</p><p id="par0050" class="elsevierStylePara elsevierViewall">Alberto Mota&#58; Review and final approval&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflicts of interest</span><p id="par0055" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span></span>"
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Article information
ISSN: 03650596
Original language: English
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