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VWF&#58; Ag and hemogram&#44; although a slightly prolonged bleeding time was found &#40;13&#47;9<span class="elsevierStyleHsp" style=""></span>min&#41;&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Physical examination</span><p id="par0010" class="elsevierStylePara elsevierViewall">The initial examination revealed several ecchymoses of different sizes predominantly in the lower extremities &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; Her skin was velvety in appearance and to the touch&#44; she had some atrophic scars on her legs and arms&#44; piezogenic papules and hyperelasticity of the skin &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; With these findings&#44; joint mobility was assessed&#44; scoring 7&#47;9 in the Beighton scale &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41;&#59; based on these clinical findings&#44; a diagnosis of hypermobile Ehlers-Danlos Syndrome &#40;hEDS&#41; was proposed&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">What is the diagnosis&#63;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Diagnosis and evolution</span><p id="par0020" class="elsevierStylePara elsevierViewall">The patient was referred to genetics&#44; who considered ruling out classical EDS and ordered a genetic panel and complementary tests&#46; A mild mitral prolapse was identified through M-mode echocardiogram &#40;posterior mitral leaflet 2<span class="elsevierStyleHsp" style=""></span>mm above the annular plane&#41;&#46; MRI and X-rays of the dorsolumbar spine and knees demonstrated mild scoliosis with facet joint stenosis&#44; bilateral patellofemoral malalignment&#44; and grade 1 chondromalacia patellae&#46; The ophthalmologic evaluation found bilateral lattice degeneration of the retina with a small peripheral tear in the left eye&#44; which was corrected through photocoagulation&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">The EDS genetic panel was negative but diagnostic criteria for hEDS were met by the patient &#40;<a class="elsevierStyleCrossRef" href="#sec0035">Table 1&#46; Supplementary data</a>&#41;&#44; and also by her mother&#46; Paraclinical findings allowed starting an opportune multidisciplinary approach to attenuate further deterioration&#46; Treatment with ascorbic acid 2<span class="elsevierStyleHsp" style=""></span>g daily was started&#44; the patient referred decreased bruising&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Discussion</span><p id="par0030" class="elsevierStylePara elsevierViewall">EDS encloses a broad group of genetic disorders of the connective tissue&#59; according to the latest classification&#44; there are 13 subtypes&#44; being hypermobile the most frequent one with an estimated prevalence of 1&#58;5000&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> hEDS is inherited in an autosomal dominant pattern&#44; it is characterized by generalized joint hypermobility predisposing to instability and early degenerative joint disease&#44; skin hyperextensibility that is milder than in other EDS subtypes&#44; and easy bruising&#46; It may be associated with mitral valve prolapse&#44; migraines&#44; postural orthostatic tachycardia syndrome &#40;POTS&#41;&#44; ocular alterations &#40;including myopia and predisposition to retinal detachments&#41;&#44; chronic pain&#44; and psychologic disturbances&#46;<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">2&#8211;4</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">A genetic mutation hasn&#8217;t been identified yet&#44; hence the diagnosis remains clinical and based on the criteria established by the International Consortium on Ehlers-Danlos Syndrome &#38; Related Disorders in association with the Ehlers-Danlos society<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a>&#59; three criteria must be met&#58; The presence of generalized joint hypermobility&#59; systemic manifestations&#44; family history&#44; and&#47;or musculoskeletal complications&#59; and the exclusion of alternate diagnosis &#40;<a class="elsevierStyleCrossRef" href="#sec0035">Table 1</a>&#41;&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Given the broad compromise&#44; patients require multidisciplinary management aiming to prevent the complications that might present&#44; and should be tailored to the particular manifestations of each patient&#59; there is no standardized approach for soft tissue fragility and its manifestations&#44; but the use of high doses of ascorbic acid &#40;1&#8211;4<span class="elsevierStyleHsp" style=""></span>g daily&#41; may improve wound healing and decrease easy bruising&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a> It is also advisable&#44; when practicing procedures in these patients&#44; to consider longer times for suture removal&#44; up to 5 days later than in non-EDS patients&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Ehlers-Danlos syndrome is an entity with a variable presentation that usually has cutaneous manifestations&#44; these may be the leading cause of consultation&#44; so the dermatologist must be aware and alert to the identification of the different signs suggestive of the disease&#46; In this case&#44; the presence of ecchymoses led to the diagnosis and allowed the opportune identification and management of subclinical multisystemic compromise&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Conflict of interests</span><p id="par0050" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflict of interest&#46;</p></span></span>"
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Cases for Diagnosis
Spontaneous Ecchymoses in a Young Woman Leading to the Diagnosis of Hypermobile Ehlers-Danlos Syndrome
Equimosis espontáneas en una mujer joven, con propuesta de diagnóstico de síndrome de Ehlers-Danlos hipermóvil
M.F. Hernandez-Amarisa,
Autor para correspondencia
mafhernandez_a@hotmail.com

Corresponding author.
, J. Victoria-Chaparroa,b
a Universidad Libre, Cali, Colombia
b Clínica Farallones, Cali, Colombia
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        "titulo" => "Equimosis espont&#225;neas en una mujer joven&#44; con propuesta de diagn&#243;stico de s&#237;ndrome de Ehlers-Danlos hiperm&#243;vil"
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          "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Hyperelasticity of the skin&#44; stretching beyond 3<span class="elsevierStyleHsp" style=""></span>cm in the neck &#40;superior left&#41;&#59; Pyezogenic papules &#40;superior right&#41;&#59; Atrophic scars &#40;bottom&#41;&#46;</p>"
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Case-report</span><p id="par0005" class="elsevierStylePara elsevierViewall">A 30-year-old female was seen in the outpatient clinic with recurrent bruising that appeared spontaneously&#44; or after minimal trauma&#59; these were barely painful and would disappear on their own after a few weeks leaving a greenish discoloration&#46; She had a personal history of migraine and myopia&#44; her mother had a history of surgery for retinal detachments in several occasions&#44; and&#44; since her father had a diagnosis of Von Willebrand&#39;s disease&#44; she had already been evaluated by hematology&#44; who ruled out a coagulation disorder after finding normal coagulation tests and platelet aggregation curve&#46; Nevertheless&#44; coagulation function was reassessed finding normal PT&#44; PTT&#44; platelet aggregation curve&#44; VWF&#58; Ag and hemogram&#44; although a slightly prolonged bleeding time was found &#40;13&#47;9<span class="elsevierStyleHsp" style=""></span>min&#41;&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Physical examination</span><p id="par0010" class="elsevierStylePara elsevierViewall">The initial examination revealed several ecchymoses of different sizes predominantly in the lower extremities &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; Her skin was velvety in appearance and to the touch&#44; she had some atrophic scars on her legs and arms&#44; piezogenic papules and hyperelasticity of the skin &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; With these findings&#44; joint mobility was assessed&#44; scoring 7&#47;9 in the Beighton scale &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41;&#59; based on these clinical findings&#44; a diagnosis of hypermobile Ehlers-Danlos Syndrome &#40;hEDS&#41; was proposed&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">What is the diagnosis&#63;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Diagnosis and evolution</span><p id="par0020" class="elsevierStylePara elsevierViewall">The patient was referred to genetics&#44; who considered ruling out classical EDS and ordered a genetic panel and complementary tests&#46; A mild mitral prolapse was identified through M-mode echocardiogram &#40;posterior mitral leaflet 2<span class="elsevierStyleHsp" style=""></span>mm above the annular plane&#41;&#46; MRI and X-rays of the dorsolumbar spine and knees demonstrated mild scoliosis with facet joint stenosis&#44; bilateral patellofemoral malalignment&#44; and grade 1 chondromalacia patellae&#46; The ophthalmologic evaluation found bilateral lattice degeneration of the retina with a small peripheral tear in the left eye&#44; which was corrected through photocoagulation&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">The EDS genetic panel was negative but diagnostic criteria for hEDS were met by the patient &#40;<a class="elsevierStyleCrossRef" href="#sec0035">Table 1&#46; Supplementary data</a>&#41;&#44; and also by her mother&#46; Paraclinical findings allowed starting an opportune multidisciplinary approach to attenuate further deterioration&#46; Treatment with ascorbic acid 2<span class="elsevierStyleHsp" style=""></span>g daily was started&#44; the patient referred decreased bruising&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Discussion</span><p id="par0030" class="elsevierStylePara elsevierViewall">EDS encloses a broad group of genetic disorders of the connective tissue&#59; according to the latest classification&#44; there are 13 subtypes&#44; being hypermobile the most frequent one with an estimated prevalence of 1&#58;5000&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> hEDS is inherited in an autosomal dominant pattern&#44; it is characterized by generalized joint hypermobility predisposing to instability and early degenerative joint disease&#44; skin hyperextensibility that is milder than in other EDS subtypes&#44; and easy bruising&#46; It may be associated with mitral valve prolapse&#44; migraines&#44; postural orthostatic tachycardia syndrome &#40;POTS&#41;&#44; ocular alterations &#40;including myopia and predisposition to retinal detachments&#41;&#44; chronic pain&#44; and psychologic disturbances&#46;<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">2&#8211;4</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">A genetic mutation hasn&#8217;t been identified yet&#44; hence the diagnosis remains clinical and based on the criteria established by the International Consortium on Ehlers-Danlos Syndrome &#38; Related Disorders in association with the Ehlers-Danlos society<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a>&#59; three criteria must be met&#58; The presence of generalized joint hypermobility&#59; systemic manifestations&#44; family history&#44; and&#47;or musculoskeletal complications&#59; and the exclusion of alternate diagnosis &#40;<a class="elsevierStyleCrossRef" href="#sec0035">Table 1</a>&#41;&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Given the broad compromise&#44; patients require multidisciplinary management aiming to prevent the complications that might present&#44; and should be tailored to the particular manifestations of each patient&#59; there is no standardized approach for soft tissue fragility and its manifestations&#44; but the use of high doses of ascorbic acid &#40;1&#8211;4<span class="elsevierStyleHsp" style=""></span>g daily&#41; may improve wound healing and decrease easy bruising&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a> It is also advisable&#44; when practicing procedures in these patients&#44; to consider longer times for suture removal&#44; up to 5 days later than in non-EDS patients&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Ehlers-Danlos syndrome is an entity with a variable presentation that usually has cutaneous manifestations&#44; these may be the leading cause of consultation&#44; so the dermatologist must be aware and alert to the identification of the different signs suggestive of the disease&#46; In this case&#44; the presence of ecchymoses led to the diagnosis and allowed the opportune identification and management of subclinical multisystemic compromise&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Conflict of interests</span><p id="par0050" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflict of interest&#46;</p></span></span>"
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          "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Assessment of joint hypermobility with the Beighton score&#58; Ability to flex spine placing palms to floor without bending knees &#40;Left&#41; &#8211; 1 point&#59; Active hyperextension of elbow &#62;10&#176; &#40;Superior right&#41; &#8211; 1 point each side&#59; Active hyperextension of knee &#62;10&#176; &#8211; was not present&#59; Passive apposition of thumb to forearm &#40;Bottom middle&#41; &#8211; 1 point each side&#59; Passive hyperextension of fifth metacarpal-phalangeal joint &#62;90&#176; &#40;Bottom right&#41; &#8211; 1 point each side&#46;</p>"
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