Autopsy and Case Reports
https://app.periodikos.com.br/journal/autopsy/article/doi/10.4322/acr.2018.008
Autopsy and Case Reports
Article / Clinical Case Report

Suspicious scars: physical child abuse vs Ehlers-Danlos syndrome

Amal Nishantha Vadysinghe; Chatula Usari Wickramashinghe; Dineshi Nadira Nanayakkara; Chandishni Ishara Kaluarachchi

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Abstract

Child abuse is a sensitive topic among many medical practitioners and the diagnosis of this entity requires awareness about conditions which can mimic physical child abuse. Here, the authors present a case of a 13-year-old school non-attendee who was referred due to multiple scars, over areas prone to accidental as well as non-accidental injury, who underwent medicolegal examination due to suspicion of physical child abuse. On further inquiry, it was discovered that she had easy bruising and poor wound healing. A diagnosis of Ehlers-Danlos syndrome was established and physical child abuse was excluded. This case emphasizes the importance of identifying conditions which may confound the diagnosis of physical child abuse. This is of utmost importance in avoiding adverse legal and psycho-social implications on the child, family and society.

Keywords

Child Maltreatment, Child Neglect, Ehlers Danlos Disease

References

Coulter K. Bruising and skin trauma. Pediatr Rev. 2000;21(1):34-5. [PMID:10617762] [https://doi.org/10.1542/pir.21-1-34].

Unite for Children. Violence against children in Kenya: Findings from a 2010 National Survey. Kenya: United Nations Children’s Fund Kenya Country Office, Division of Violence Prevention, National Center for Injury Prevention and Control, U.S. Centers for Disease Control and Prevention, Kenya National Bureau of Statistics; 2012.

Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. [PMID:28306229] [https://doi.org/10.1002/ajmg.c.31552].

Malfait F, Wenstrup RJ, De Paepe A. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med. 2010;12(10):597-605. [PMID:20847697] [https://doi.org/10.1097/GIM.0b013e3181eed412].

Reece RM, Christian CW, editors. Child abuse medical diagnosis and management. 3rd ed. Elk Grove Village: American Academy of Pediatrics; 2009.

Kos L, Shwayder T. Cutaneous manifestations of child abuse. Pediatr Dermatol. 2006;23(4):311-20. [PMID:16918624] [https://doi.org/10.1111/j.1525-1470.2006.00266.x].

Jenny C. Child abuse and neglect: diagnosis, treatment and evidence. St. Louis: Saunders/Elsevier; 2011.

Vadysinghe AN, Dassanayaka PB, Sivasubramanium M, Senasinghe DPP, Samaranayake AN, Wickramasinghe WMMHP. A study on sexual violence inflicted on individuals with intellectual developmental disorder. Disabil Health J. 2017;10(3):451-4. [PMID:28065419] [https://doi.org/10.1016/j.dhjo.2016.12.010].

Male I, Kenney I, Appleyard C, Evans N. Neoplasia masquerading as physical abuse. Child Abuse Rev. 2000;9(2):142-7. [https://doi.org/10.1002/1099-0852(200003/04)9:2<142::AID-CAR602>3.0.CO;2-E].

De Paepe A, Malfait F. The Ehlers Danlos syndrome, a disorder with many faces. Clin Genet. 2012;82(1):1-11. [PMID:22353005] [https://doi.org/10.1111/j.1399-0004.2012.01858.x].

Tschernogobow A. Cutis laxa. Mhft Prakt Dermatol. 1892;14:76.

De Paepe A, Malfait F. Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders. Br J Haematol. 2004;127(5):491-500. [PMID:15566352] [https://doi.org/10.1111/j.1365-2141.2004.05220.x].

Ritelli M, Dordoni C, Venturini M, et al. Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis. 2013;8(1):58. [PMID:23587214] [https://doi.org/10.1186/1750-1172-8-58].

Malfait F, Wenstrup R, De Paepe A. Ehlers-Danlos syndrome, Classic Type. Updated 2011 Aug 18. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle: University of Washington; 2007 [cited 2017 Sept 20]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1244/

Pourazizi M, Abtahi-Naeini B, Shapouri J, Masjedi M, Saffaei A. Unexplained facial scar: child abuse or Ehlers-Danlos syndrome? N Am J Med Sci. 2014;6(11):595-8. [PMID:25535610] [https://doi.org/10.4103/1947-2714.145482].

Bursztejn AC, Baumann M, Lipsker D. Ehlers-Danlos syndrome related toFKBP14mutations: detailed cutaneousphenotype. Clin Exp Dermatol. 2017;42(1):64-7. [PMID:27905128] [https://doi.org/10.1111/ced.12983].

Walter SM. Case report: Ehlers-Danlos syndrome in an adolescent presenting with chronic daily headache. Surg Neurol Int. 2014;5(13, Suppl 13):S475-8. [PMID:25506506] [https://doi.org/10.4103/2152-7806.144629].

De Paepe A, Nuytinck L, Hausser I, Anton-Lamprecht I, Naeyaert JM. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. Am J Hum Genet. 1997;60(3):547-54. [PMID:9042913]

Pauker SP, Stoler JM. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpTtoDate; 2016 [cited 2017 Sept 20]. Available from: https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-ehlers-danlos-syndromes

Onyon C, Rabb L, Debelle G. Non-accidental injury and bone fragility disorders: the need for a multidisciplinary perspective. Child Abuse Rev. 2009;18(5):346-53. [https://doi.org/10.1002/car.1086].

Thain J. Child protection, public health and nursing. Nurs Child Young People. 2017;29(3):18. [https://doi.org/10.7748/ncyp.29.3.18.s21].


Publication date:
02/16/2018

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