hydroxylysine and Scoliosis

We report on the unprecedented combination of two recessively inherited disorders, the kyphoscoliosis type of Ehlers-Danlos syndrome (EDS type VI) and cystic fibrosis (CF), in two sibs born to consanguineous Turkish parents. Because of failure to thrive and bronchitis CF was diagnosed in the index patient early whereas EDS VI was recognized only very late. Both patients had marked muscular hypotonia at birth, delayed gross motor development, progressive kyphoscoliosis, joint dislocations, Marfanoid habitus, hypertrophic and atrophic scars, and osteopenia. EDS VI was proven by collagen studies and the pathognomonic pattern of urinary pyridinolines. Because the genes coding for the two disorders are located on different chromosomes and a chromosomal rearrangement was excluded, we conclude that their combination is a chance association. The cardiopulmonary impairment common to both diseases makes the prognosis dismal.

Topics: Amino Acids; Collagen; Consanguinity; Cystic Fibrosis; Ehlers-Danlos Syndrome; Female; Genes, Recessive; Hand Deformities, Congenital; Humans; Hydroxylysine; Infant, Newborn; Nuclear Family; Pedigree; Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase; Prognosis; Radiography; Scoliosis; Turkey

Two Turkish sibs with clinical features of Ehlers-Danlos syndrome type VI-B are presented. The hydroxylysine contents of dermis and gel electrophoresis of type I and type III collagen produced by fibroblasts were normal. Ultrastructural studies of skin collagen and elastic fibers showed discrete abnormalities. Other syndromes with similar clinical, biochemical and ultrastructural features are discussed.

Topics: Child, Preschool; Collagen; Diagnosis, Differential; Ehlers-Danlos Syndrome; Elastin; Eye Abnormalities; Female; Fibroblasts; Humans; Hydroxylysine; Infant; Joint Instability; Male; Pedigree; Sclera; Scoliosis; Skin

The collagen content, proportion of Types I and II collagen, and the relative concentrations of the reducible crosslinks of human lumbar intervertebral discs have been found to vary with age and location and to be highly dependent on the topography of the tissue. From adolescence to mature adulthood, the most significant change is an increase in the content of Type I collagen at the expense of genetically distinct Type II collagen in the outer lamella of the posterior quadrant, while just the reverse is true of the anterior quadrant. These changes are accompanied by similar but smaller alterations in the total collagen content and in the crosslink hydroxylysinohydroxynorleucine . The same differences in the distribution of Types I and II collagens occur in the annuli on the concave and convex sides of scoliotic curves. Together, these data establish that active cellular activity and tissue remodelling occur in the annuli fibrosi and suggest that these specific changes are initiated in response to overall increases in compressive loading on the concave side and tensile loading on the convex side of the spine and the subsequent changes they induce in the magnitude and distribution of internal stresses within the annuli. In its most general formulation, the biological behavior of annuli fibrosi to mechanical forces appears to follow Wolff's Law.

Topics: Adolescent; Adult; Aged; Aging; Amino Acids; Chromatography, Ion Exchange; Collagen; Cross-Linking Reagents; Female; Humans; Hydroxylysine; Intervertebral Disc; Lumbar Vertebrae; Male; Middle Aged; Scoliosis

Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Bone and Bones; Cartilage; Child; Collagen; Collagen Diseases; Fascia; Female; Humans; Hydroxylation; Hydroxylysine; Hydroxyproline; Lysine; Microscopy, Electron; Pedigree; Scoliosis; Skin; Skin Diseases; Solubility; X-Ray Diffraction