Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome (Fibrodysplasia Elastica Generalisata; Cutis Hyperelastica; Meekeren-Ehlers-Danlos Syndrome; Indian Rubber Man Syndrome; Cutis Laxa)
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 plana; 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 1908; 19:70.
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; 90:1337-1341.
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: 1795-1798.
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.
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 plana; 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 1908; 19:70.
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; 90:1337-1341.
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: 1795-1798.
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.
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