Hyperextensibility with normal elastic recoil is a feature of-

Ehler Danos syndrome EDS is characterized by hyper-extensible skin and hypermobile joints but the category includes rare patients with other distinctive features. Mutations in different types of collagen are found in many patients but other genes are at fault in rare forms. Contrary to initial expectations, no patients have been found with mutations in the gene for elastin in EDS. Incidence The overall incidence of EDS is about 1 in 5000 bihs, with a higher rate for blacks. Classical and hypermobile types of EDS are the most common. Patients with milder forms frequently do not seek medical attention. Clinical features Skin Skin changes vary from thin and velvety to skin that is either dramatically hyperextensible ("rubber person" syndrome) or easily torn or scarred. Patients with classical EDS develop characteristic "cigarettepaper" scars. In vascular-type EDS, extensive scars and hyperpigmentation develop over bony prominences, and the skin may be so thin that subcutaneous blood vessels are visible. In the periodontotic type of EDS, the skin is more fragile than hyperextensible, and it heals with atrophic, pigmented scars. Easy bruisability occurs in several types of EDS. Ligament and Joint Changes Laxity and hypermobility of joints vary from mild to unreducible dislocations of hips and other large joints. In mild forms, patients learn to avoid dislocations by limiting physical activity. In more severe forms, surgical repair may be required. Some patients have progressive difficulty with age.Other Features Mitral valve prolapse and hernias occur, particularly with Type I. Pes planus and mild to moderate scoliosis are common. Extreme joint laxity and repeated dislocations may lead to degenerative ahritis. In the ocular-scoliotic type of EDS, the eye may rupture with minimal trauma, and kyphoscoliosis can cause respiratory impairment. Also, sclerae may be blue. Ref - harrisons's internal medicine 20e p2973