Systemic hyalinosis or fibromatosis hyalinica multiplex juvenilis as a congenital syndrome. A new entity based on the inborn error of the acid mucopolysaccharide metabolism in connective tissue cells?
D001847:Bone Diseases; D002239:Carbohydrate Metabolism, Inborn Errors; D002648:Child; D002675:Child, Preschool; D002807:Chondroitin / Q000096:biosynthesis*; D003238:Connective Tissue / Q000378:metabolism*; D005886:Gingival Hypertrophy / Q000473:pathology; D006025:Glycosaminoglycans / Q000032:analysis / Q000378:metabolism*; D006651:Histocytochemistry; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007592:Joint Diseases; D008297:Male; D008722:Methods; D012867:Skin / Q000032:analysis; D012871:Skin Diseases / Q000473:pathology; D012878:Skin Neoplasms / Q000473:pathology; D013194:Staining and Labeling; D013577:Syndrome
D006025:Glycosaminoglycans; D002807:Chondroitin