Ehlers-Danlos syndrome type VI

Genetics: - associated with defects in PLOD1 (lysyl hydroxylase 1) Clinical manifestations: 1) scoliosis may result in respiratory impairment 2) ocular fragility 3) keratoconus (cone-shaped deformity of the cornea) 4) the eye may rupture with minimal trauma 5) sclera may be blue 6) retinal detachment 7) Nevo syndrome & Ehlers-Danlos syndrome type 6 have similar clinical phenotypes & may be same clinical entity

References

Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2189-91