title: Vascular Ehlers-Danlos syndrome: a case with fatal outcome.
abstract: A 13-year-old boy, born prematurely and hypotonic, from non-consanguineous healthy parents, was referred to our department because of easy bruising. A slightly extensible, thin and translucent skin, associated with dysmorphic facies, acrogeria, multiple ecchymoses, hypermobility of the small joints, dorsal kyphosis, genu valgum, flat feet, elongated upper limbs, and low muscle tone were all evident. A history of learning disability and bilateral inguinal hernia was present. Blood and imaging studies were unremarkable. A skin biopsy disclosed an unremarkable dermis; electron microscopy showed abnormalities in the diameter, contour, and shape of collagen fibrils/fibers. Genetic analysis revealed heterozygosity for a novel mutation in COL3A1 gene (c.3527G>A), confirming the diagnosis of vascular Ehlers-Danlos syndrome (VEDS). The patient died at 15 years of age because of aortic dissection. Vascular Ehlers-Danlos syndrome is a rare, life-threatening, autosomal dominant variant of EDS, resulting from mutations in COL3A1 gene. Affected individuals are prone to serious and potentially fatal complications, especially vascular, intestinal, and uterine ruptures. Delay in diagnosis is common, even when the clinical presentation is typical. Therefore, dermatologists should be familiar with VEDS features because the skin findings may be the first signs. Early diagnosis will improve management of visceral complications and allow early genetic counseling.
authors.affiliation: Department of Dermatovenereology, Hospital S. João, Porto, Portugal.
authors.forename: Paulo
authors.initials: P
authors.lastname: Morais
authors.forename: Alberto
authors.initials: A
authors.lastname: Mota
authors.forename: Catarina
authors.initials: C
authors.lastname: Eloy
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Lopes
authors.forename: Fátima
authors.initials: F
authors.lastname: Torres
authors.forename: Aida
authors.initials: A
authors.lastname: Palmeiro
authors.forename: Purificação
authors.initials: P
authors.lastname: Tavares
authors.forename: Filomena
authors.initials: F
authors.lastname: Azevedo
mesh_terms: D000293:Adolescent; D001014:Aortic Aneurysm / Q000209:etiology* / Q000235:genetics; D001706:Biopsy; D024061:Collagen Type III / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D017809:Fatal Outcome; D006579:Heterozygote; D006801:Humans; D008297:Male; D017354:Point Mutation
chemical_list: C439971:COL3A1 protein, human; D024061:Collagen Type III