Ehlers-Danlos syndrome, kyphoscoliotic type. Ehlers-Danlos syndrome type 6
Incidence
The disease is very rare and is transmitted as an autosomal recessive trait.
Clinical Characteristics
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inherited disorders in connective tissues characterized by hyperextensible skin and joints and tissue friability. The new classification defines 6 clinical forms among which the kyphoscoliotic form, formerly called EDS type VI or oculoscoliotic EDS. This particular form is marked by progressive congenital scoliosis, severe muscle hypotonia, hyperextensibility of all joints, and fragile eyeballs. The following signs are very frequently seen: kiphosis, hypotonia, scoliosis, abnormal scarring, hyperelastic skin, joint dislocation, metabolism anomalies, hyperextensible joints. These other signs were seen frequently also: keratoconus, microcornea, dislocated hip, inguinal hernia, retinal detachment, visual loss-severe. The disease is very rare and is transmitted as an autosomal recessive trait. It is due to lysyl-hydroxilase deficiency, which is involved in posttranslational modifications of lysine in the alpha chains of collagen. The PLOD gene that codes for the enzyme is located on the short arm of chromosome 1 (1p36); it has been cloned and homozygous or heterozygous compound mutations have been identified in patients affected by kyphoscoliotic EDS. Biochemical screening tests are available in specialised laboratories.
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
Biochemical screening tests are available in specialised laboratories.