2014
DOI: 10.4103/1947-2714.145482
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Unexplained facial scar: Child abuse or Ehlers-Danlos syndrome?

Abstract: Context:Child abuse is a serious problem, and its physical manifestations can be mimicked by certain diseases and conditions. These conditions can include genetic, congenital and other disorders that may result in poor weight gain, bone fractures or skin lesions that look like bruises or burns.Case Report:This paper reports the case of a seven-year-old girl with Ehlers-Danlos Syndrome (EDS), which was misdiagnosed as child abuse. This child was referred to us for treatment of an unexplained facial scar that wa… Show more

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Cited by 12 publications
(1 citation statement)
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“…Classic EDS, with a prevalence of 1 in 20,000, can be diagnosed accurately with family history and clinical examination alone. 14 The cutaneous manifestations seen in classic EDS are multiple, with the most common being smooth, velvety, fragile and hyper-extensible skin with easy bruising 15 and atrophic scars, 16 as were observed in our patient. Genetic mutations of COL5A1 and COL5A2, resulting in deficiency of type 5 collagen, 17 , 18 have been identified to be responsible for around 50% of cases of classic EDS, with approximately 50% representing de novo mutations.…”
Section: Discussionsupporting
confidence: 65%
“…Classic EDS, with a prevalence of 1 in 20,000, can be diagnosed accurately with family history and clinical examination alone. 14 The cutaneous manifestations seen in classic EDS are multiple, with the most common being smooth, velvety, fragile and hyper-extensible skin with easy bruising 15 and atrophic scars, 16 as were observed in our patient. Genetic mutations of COL5A1 and COL5A2, resulting in deficiency of type 5 collagen, 17 , 18 have been identified to be responsible for around 50% of cases of classic EDS, with approximately 50% representing de novo mutations.…”
Section: Discussionsupporting
confidence: 65%