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Acta Dermatovenerol Croat. 2013;21(2):118-22.

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

Author information

1
Department of Dermatology and Venereology, Hospital São João, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal. paulomoraiscardoso@gmail.com

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.

PMID:
24001420
[Indexed for MEDLINE]

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