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Biomedical subjects

J R Lichtenstein

Publications and source records attributed to J R Lichtenstein.

28 records · Page 2Linked to original sources
PubMed1974

Hydroxylysine-deficient skin collagen in a patient with a form of the Ehlers-Danlos syndrome.

Two sibs with the Ehlers-Danlos syndrome, one of whom was shown to have hydroxylysine-deficient collagen, are described. In addition to the usual features of the Ehlers-Danlos syndrome (loose-jointedness and excessively stretchable, fragile, and bruisable skin), these patients had severe scoliosis and fragility of ocular tissues leading to rupture of the globe or retinal detachment. This combination of symptoms was tentatively classified as Ehlers-Danlos syndrome, Type VI. The condition is inherited as an autosomal recessive. The activity of lysyl hydroxylase was present at a reduced level in fibroblasts cultured from the patient's skin.

Chromosome Aberrations↗
PubMed1973

Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.

Three patients with a form of the Ehlers-Danlos syndrome, a generalized disorder of connective tissue, have detectable amounts of procollagen in extracts of their skin and tendon. The activity of procollagen peptidase, the enzyme that converts procollagen to collagen, is reduced in cultures of fibroblasts. The clinical manifestations of this syndrome may be related to impaired enzymatic conversion of procollagen to collagen. Cultures of skin fibroblasts from these patients have an increased rate of synthesis of collagenous protein (collagen and procollagen), possibly related to the inability of these cells to convert procollagen to collagen.

Carbon Radioisotopes↗
PubMedDate not supplied

Localized scleroderma and idiopathic thrombocytopenia.

Two patients with localized scleroderma who developed thrombocytopenic purpura are reported. In both patients the thrombocytopenia improved after prednisone therapy, and has not recurred in 5 and 8 yr of subsequent observation without steroids. Both patients had a positive antinuclear antibody (ANA) test and 1 had a positive assay for immune complexes by the Clq solid phase radioimmunoassay. Non-immune causes for the lowered platelets were not found. This possible association may add a new, potentially life-threatening dimension to localized scleroderma.

Adolescent↗
PubMedDate not supplied

Ehlers-Danlos syndrome presenting as rheumatic manifestations in the child.

Nine patients with Ehlers-Danlos syndrome (EDS) presented with joint complaints. This represented 5% of the new pediatric arthritis patients seen over a 6-month period. All 9 patients had a history of double-jointedness, and 7 had arthralgias associated with increased physical activity. On physical examination all had hypermobile joints, 7 had joint tenderness, but none had joint swelling. Based on the presence of other features including hyperextensible skin, widened scars, and cardiac clicks and murmurs, 8 were categorized as EDS Type II and 1 as EDS Type III. It posed a significant problem because the diagnosis had not been previously entertained before consultation and erroneous diagnosis had been made. Therefore, EDS should be included in the differential diagnosis of polyarthralgia in the child.

Adolescent↗