X-linked cutis laxa
Occipital horn syndrome (OHS) is a mild form of Menkes disease (see this term), a syndrome characterized by progressive neurodegeneration and ConnectiveTissue Disordersdue to a copper transport defect.
Additional InformationOccipital horn syndrome (OHS) is a pathology of the extracellular matrix associated with cutaneous and skeletal manifestations. It is a rare disease for which the incidence is unknown. Although signs of the syndrome may be present from birth, onset is variable and not all the manifestations may be present. OHS is a less severe allelic variant of Menkes syndrome (see this term). The cutaneous manifestations include hyperextensibility, Vascular fragility and atrophic scars. The skeletal manifestations include palpable occipital exostoses ("horns"), as well as Joint hypermobility, short clavicles with widening of the distal parts of the bones, radial luxation, bowed long bones, tarsal fusion, a narrow rib cage and osteoporosis. Urinary tract anomalies (vesical and ureter diverticula), Digestive problems (diarrhea) and Vascular anomalies (varicosities and aneurysms) have also been reported. The neurological manifestations are variable and often not severe, but mild intellectual deficit is not uncommon. The disease is associated with mutations in the ATP7A Gene (Xq13.3), encoding an intracellular copper transport protein. The symptoms result from alterations in the Function of copper-dependant enzymes, in particular that of lysyl oxidase. Diagnosis can be established by detecting low levels of copper (and ceruloplasmin) in the serum and High levels in cutaneous fibroblasts. The Diagnosis can be confirmed by identification of the Gene mutation. Genetic analysis also allows Screening of carrier females and antenatal Diagnosis through chorionic villus sampling. Treatment is based on parenteral administration of histidine-copper and is effective at preventing the neurological symptoms. The prognosis is variable and depends on the level of residual enzyme activity. The majority of patients survive until adulthood.
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