Cutaneous and articular features in patients with cEDS. a-d) marked skin hyperextensibility on the neck, the forearm, the elbow, and the knee; e-h) different scar types, small atrophic, atrophic and hypertrophic, hypertrophic and haemosiderotic; i, j) scars and easy bruising of the knees and pretibial area in a pediatric and an adult patient; k-n) hypermobility of the little finger, the thumb, the elbow and the knee in a pediatric patient; o-p) molluscoid pseudotumors; q) piezogenic papules. Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, Zoppi N, Vascellaro A, Wischmeijer A, Manfredini E, Garavelli L, Calzavara-Pinton P, Colombi M - Orphanet journal of rare diseases (2013). Not Altered. CC.
Ehlers-Danlos Syndrome is a connective tissue disorder that results in stretchy skin, usually due to a defect in collagen genes such as COL5A1 and COL5A2.