Ehlers-danlos syndrome (fibrodysplasia elastica generalisata; cutis hyperelastica; meekeren-ehlers-danlos syndrome; indian rubber man syndrome; cutis laxa)  400

General: Present at birth; autosomal dominant; two groups: (i) cutaneous and (ii) articular; syndrome is one of three primary disorders of elastic tissue (other two are pseudoxanthoma elasticum [Grönblad-Strandberg syndrome] and senile elastosis); inherited disorder of collagen biosynthesis.

Ocular: Hyperelasticity of palpebral skin; easy eversion of upper lid; ptosis; epicanthal folds; hypotony of extraocular muscles; strabismus; microcornea; thinning of cornea with keratoconus; thinning of sclera (blue sclera); subluxation of lens; angioid streaks; chorioretinal hemorrhages; retinitis proliferans with secondary detachment; macular degeneration; myopia; ruptured globe after minor trauma; limbus-to-limbus corneal thinning; acute hydrops; cornea a; keratoglobus.

Clinical: Cutaneous manifestations include thin, atrophic, fragile skin, cutaneous hyperelasticity, and pseudomolluscoid tumors; articular manifestations include excessive articular laxity and luxations; hypermobile joints.

Ainsworth SR, Aulicino PL. A survey of patients with Ehlers-Danlos syndrome. Clin Orthop Rel Res 1993; 286: 250-256.

Cameron JA. Corneal abnormalities in Ehlers-Danlos syndrome type VI. Cornea 1993; 12:54-59.

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.

Danlos H. Un Cas de Cutis Laxa avec Tumeurs par Contusion Chronique des Caudes et des Genoux. Bull Soc Fr Dermatol Syph

Ehlers E. Cutis Laxa, Neigung zu Hoemorrhagien in der Haut, Lockerung mehrerer Artikulationen. Dermatol Zr 1901; 8:173.

Farley MK, et al. Spontaneous carotid-cavernous fistula and the Ehlers-Danlos syndromes. Am Acad Ophthalmol 1983; 90:1337-l341.

Harley RD, ed. Pediatric Ophthalmology, 4th ed. Philadelphia: WB Saunders, 1998.

Pesudovs K: Orbscan mapping in Ehlers-Danlos syndrome. J Cataract Refract Surg 2004; 30: 1795-l798.

Prockop DJ, Kuivaniemi H, Tromp G. Heritable disorders of connective tissue. Ehlers-Danlos syndrome. In: Isselbacher KJ, et al., eds. Harrison’s Principles of Internal Medicine, 13th ed. New York: McGraw-Hill, 1994:2113-2114.