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Acta Dermatovenerologica Croatica, Vol. 21 No. 2, 2013.

Professional paper

Classic Ehlers-Danlos syndrome: Case report and brief review of literature

Paulo Morais ; Department of Dermatology and Venereology, São João Hospital Center, Porto, PortugalFaculty of Medicine, University of Porto, Porto, Portugal
Olga Ferreira ; Department of Dermatology and Venereology, São João Hospital Center, Porto, PortugalFaculty of Medicine, University of Porto, Porto, Portugal
Sofia Magina ; Department of Dermatology and Venereology, São João Hospital Center, Porto, PortugalFaculty of Medicine, University of Porto, Porto, Portugal
Carmen Silva ; Department of Pediatrics, São João Hospital Center, Porto, Portugal
Ana Maia ; Department of Pediatrics, São João Hospital Center, Porto, Portugal
Miguel Leão ; Department of Genetics, São João Hospital Center, Porto, PortugalFaculty of Medicine, University of Porto, Porto, Portugal
Filomena Azevedo ; Department of Dermatology and Venereology, São João Hospital Center, Porto, Portugal

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Abstract

Easy bruising in children represents a diagnostic conundrum. Although trauma (accidental or not) and bleeding disturbances are the most common causes, other rarer etiologies should be considered in differential diagnosis. When a 4-year-old male patient presented with a history of bruising and hematomas after slight injuries coagulopathy and physical abuse were suspected. However, the presence of skin hyperextensibility, generalized joint hypermobility, atrophic and "cigarette paper" scars, pes planus, piezogenic pedal papules, and similar clinical picture in the mother, maternal uncle and grandfather, suggested a diagnosis of Ehlers-Danlos syndrome, classic type. Genetic study revealed a heterozygous variant (c.379C>T) in exon 3 of the COL5A1 gene, not previously described in the literature, confirming the clinical suspicion. The authors intend to draw attention to this rare and diagnostically challenging condition that should be correctly diagnosed for the early adoption of preventive measures.

Keywords

Hrčak ID:

106666

URI

https://hrcak.srce.hr/106666

Publication date:

23.8.2013.

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