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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Case Presentation</span><p id="par0005" class="elsevierStylePara elsevierViewall">A 39-week-old male infant developed several blebs on his thumbs within a few hours of birth&#44; which were classified as &#8220;suction blisters&#8221; at his local hospital&#46; In the following days&#44; several extensive blisters appeared on his chest and arms&#44; presenting positive Nikolski&#39;s sign&#46; He was then diagnosed as &#8220;Staphylococcal scalded skin syndrome&#8221;&#44; so nasal and conjunctival exudate samples were taken for culture and empirical treatment with intravenous cloxacillin was started&#46; No microorganisms were identified on culture&#44; so antibiotic treatment was discontinued at one week of life&#44; and a diagnosis of &#8220;neonatal bullous pemphigoid&#8221; was done&#46; Blisters remained apparently stable&#44; with no purulent or haemorrhagic secretions&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">However&#44; at 20-days of life&#44; the baby started with fever and exudative blistering lesions&#46; Due to the lack of response to treatment and to worsening of the skin lesions&#44; he was referred to our institution at 44-days of life&#46; Upon arrival&#44; the baby presented extensive haemorrhagic lesions which involved 60&#37; total body surface area&#44; affecting all 4 extremities&#44; head and back &#40;<a class="elsevierStyleCrossRefs" href="#fig0005">Figs&#46; 1 and 2</a>&#41;&#46; He presented painful erosions of the pharyngeal mucosa&#44; which were aggravated by the nasogastric tube&#44; finally requiring the performance of a gastrostomy due to impossibility of maintaining oral feeding&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">What is Your Diagnosis&#63;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Diagnosis</span><p id="par0020" class="elsevierStylePara elsevierViewall">Herlitz junctional Epidermolysis Bullosa &#40;H-JEB&#41;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Diagnosis and Discussion</span><p id="par0025" class="elsevierStylePara elsevierViewall">A skin biopsy was performed&#44; which determined the diagnosis of Herlitz junctional Epidermolysis Bullosa &#40;H-JEB&#41;&#44; after antigen mapping showed a complete lack of laminin 332&#46; He subsequently developed severe hydroelectrolytic and haematological disorders&#44; requiring several blood transfusions&#46; The child died at the age of 3 months because of cardiac and respiratory failure due to severe sepsis caused by <span class="elsevierStyleItalic">Pseudomonas aeruginosa</span>&#46; Patient&#39;s parents required psychological support all through the course of the disease and have received genetic counselling&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">H-JEB is attributed to homozygous mutations in the LAMA3&#44; LAMB3 or LAMC2 genes&#44; each encoding for one of the three chains of the heterotrimer laminin-332&#44; resulting in the lack of expression of this protein in the skin&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a> This lethal subtype usually presents as severe and extensive non-healing mucocutaneous blistering due to skin cleavage at the lamina lucida&#44; and are at increased risk of death from dehydration&#44; metabolic derangement and sepsis&#44; with 40&#8211;60&#37; patients progressing to sepsis and 30&#8211;50&#37; patients dying from sepsis-related complications&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></a> Therefore&#44; all efforts should be directed towards preventing these complications&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">3</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">The differential diagnosis for a neonate presenting with blisters must include bullous impetigo&#44; Staphylococcal scalded skin syndrome&#44; epidermolysis bullosa and bullous pemphigoid&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">4</span></a> Any form of EB should be suspected if any mechanical skin fragility is observed at birth with extensive blistering associated with crusting and erosions&#46; Skin biopsy should not be delayed in case of any suspected bullous disorder in the neonatal period&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">H-JEB is ultimately fatal&#44; even with the best of care&#46; In the case we present here&#44; the wrong initial diagnosis probably did not alter the outcome&#46; However&#44; an earlier diagnosis would have expedited the referral of the patient to a specialized EB centre&#44; allowing for earlier and better supportive care&#46; The handling of the newborn&#44; until a final diagnosis and prognosis is assured&#44; is a challenging and difficult time which poses complex ethical dilemmas&#44; both to the family and healthcare professionals&#46; Ethical questions and discussions regarding life expectancy&#44; quality of future life and the utility of certain aggressive treatments will arise and must be addressed&#44; for they are necessary when planning the management of these patients and their families&#46; EB parents usually complain of the feeling of uncertainty when dealing with this disease&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a> A prompt and correct diagnosis is paramount to inform them as honestly as possible about the disease and its lethal prognosis&#44; and to help both the patients and their parents to deal with such a desolating condition&#46; Cases such as the one we present here should result in education and training of health personnel at all levels&#46; As health-care providers&#44; we have a responsibility to provide the best possible medical care&#44; both to our patients and their families&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Conflict of Interests</span><p id="par0045" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflict of interest&#46;</p></span></span>"
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Cases for Diagnosis
Misdiagnosis in Epidermolysis Bullosa: Yet Another Burden on Patients and their Families
Error diagnóstico en un caso de epidermólisis bullosa: una carga más para los pacientes y sus familiares
C. Delgado-Miguela,
Autor para correspondencia
carlosdelgado84@hotmail.com

Corresponding author.
, M. Miguel-Ferreroa, R. De Lucas-Lagunab
a Department of Pediatric Surgery, La Paz Children's Hospital, Madrid, Spain
b Department of Pediatric Dermatology, La Paz Children's Hospital, Madrid, Spain
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with no purulent or haemorrhagic secretions&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">However&#44; at 20-days of life&#44; the baby started with fever and exudative blistering lesions&#46; Due to the lack of response to treatment and to worsening of the skin lesions&#44; he was referred to our institution at 44-days of life&#46; Upon arrival&#44; the baby presented extensive haemorrhagic lesions which involved 60&#37; total body surface area&#44; affecting all 4 extremities&#44; head and back &#40;<a class="elsevierStyleCrossRefs" href="#fig0005">Figs&#46; 1 and 2</a>&#41;&#46; He presented painful erosions of the pharyngeal mucosa&#44; which were aggravated by the nasogastric tube&#44; finally requiring the performance of a gastrostomy due to impossibility of maintaining oral feeding&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">What is Your Diagnosis&#63;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Diagnosis</span><p id="par0020" class="elsevierStylePara elsevierViewall">Herlitz junctional Epidermolysis Bullosa &#40;H-JEB&#41;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Diagnosis and Discussion</span><p id="par0025" class="elsevierStylePara elsevierViewall">A skin biopsy was performed&#44; which determined the diagnosis of Herlitz junctional Epidermolysis Bullosa &#40;H-JEB&#41;&#44; after antigen mapping showed a complete lack of laminin 332&#46; He subsequently developed severe hydroelectrolytic and haematological disorders&#44; requiring several blood transfusions&#46; The child died at the age of 3 months because of cardiac and respiratory failure due to severe sepsis caused by <span class="elsevierStyleItalic">Pseudomonas aeruginosa</span>&#46; Patient&#39;s parents required psychological support all through the course of the disease and have received genetic counselling&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">H-JEB is attributed to homozygous mutations in the LAMA3&#44; LAMB3 or LAMC2 genes&#44; each encoding for one of the three chains of the heterotrimer laminin-332&#44; resulting in the lack of expression of this protein in the skin&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a> This lethal subtype usually presents as severe and extensive non-healing mucocutaneous blistering due to skin cleavage at the lamina lucida&#44; and are at increased risk of death from dehydration&#44; metabolic derangement and sepsis&#44; with 40&#8211;60&#37; patients progressing to sepsis and 30&#8211;50&#37; patients dying from sepsis-related complications&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></a> Therefore&#44; all efforts should be directed towards preventing these complications&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">3</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">The differential diagnosis for a neonate presenting with blisters must include bullous impetigo&#44; Staphylococcal scalded skin syndrome&#44; epidermolysis bullosa and bullous pemphigoid&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">4</span></a> Any form of EB should be suspected if any mechanical skin fragility is observed at birth with extensive blistering associated with crusting and erosions&#46; Skin biopsy should not be delayed in case of any suspected bullous disorder in the neonatal period&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">H-JEB is ultimately fatal&#44; even with the best of care&#46; In the case we present here&#44; the wrong initial diagnosis probably did not alter the outcome&#46; However&#44; an earlier diagnosis would have expedited the referral of the patient to a specialized EB centre&#44; allowing for earlier and better supportive care&#46; The handling of the newborn&#44; until a final diagnosis and prognosis is assured&#44; is a challenging and difficult time which poses complex ethical dilemmas&#44; both to the family and healthcare professionals&#46; Ethical questions and discussions regarding life expectancy&#44; quality of future life and the utility of certain aggressive treatments will arise and must be addressed&#44; for they are necessary when planning the management of these patients and their families&#46; EB parents usually complain of the feeling of uncertainty when dealing with this disease&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a> A prompt and correct diagnosis is paramount to inform them as honestly as possible about the disease and its lethal prognosis&#44; and to help both the patients and their parents to deal with such a desolating condition&#46; Cases such as the one we present here should result in education and training of health personnel at all levels&#46; As health-care providers&#44; we have a responsibility to provide the best possible medical care&#44; both to our patients and their families&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Conflict of Interests</span><p id="par0045" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflict of interest&#46;</p></span></span>"
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