title: Classic Ehlers-Danlos syndrome: case report and brief review of literature.
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.
authors.affiliation: Department of Dermatology and Venereology, Hospital São João, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal. paulomoraiscardoso@gmail.com
authors.forename: Paulo
authors.initials: P
authors.lastname: Morais
authors.forename: Olga
authors.initials: O
authors.lastname: Ferreira
authors.forename: Sofia
authors.initials: S
authors.lastname: Magina
authors.forename: Cármen
authors.initials: C
authors.lastname: Silva
authors.forename: Miguel
authors.initials: M
authors.lastname: Leão
authors.forename: Ana
authors.initials: A
authors.lastname: Maia
authors.forename: Filomena
authors.initials: F
authors.lastname: Azevedo
mesh_terms: D002675:Child, Preschool; D024062:Collagen Type V / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D014644:Genetic Variation; D006801:Humans; D008297:Male
chemical_list: C530725:COL5A1 protein, human; D024062:Collagen Type V