A 10-year-old boy presents for evaluation of scattered scars on his ankles and back, which are slightly atrophic and violaceous. According to his parents, the scars were the result of minor trauma incurred months ago. The boy’s parents were concerned because of his abnormal healing. Highly elastic skin was noted during the examination. The patient also demonstrated joint hypermobility, as did his father but to a lesser degree.
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Ehlers-Danlos syndrome is an uncommon inherited disorder characterized by the production of abnormal collagen. The condition was first described in 1901.1 Cardinal features include flexible joints and elastic, doughy skin. Minor trauma eventuates in delayed healing and cigarette paper-like scars. Prevalence ranges from 1:5,000 to 1:25,000.2 Six subtypes based on clinical manifestations were defined and numbered in 1997.3 More recently, 13 subtypes have been proposed based on associated molecular aberrations.4 The most common type is caused by defects in collagen COL5A1 and COL5A2 genes.5
No effective treatment has been developed, and affected individuals should avoid activities that involve repetitive motion or physical contact. Most cases are transmitted in an autosomal dominant pattern, and all patients and families should receive genetic counseling.
Stephen Schleicher, MD, is an associate professor of medicine at the Commonwealth Medical College in Scranton, Pennsylvania, and an adjunct assistant professor of dermatology at the Perelman School of Medicine at the University of Pennsylvania in Philadelphia.
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- Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis. 2007;2:32.
- Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998;77:31-37.
- 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;175:8-26.
- Sobey G. Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. Arch Dis Child. 2015;100:57-61.