Phenotypic overlap of Ehlers‐Danlos syndrome types IV and VIII
Identifieur interne : 005832 ( Istex/Corpus ); précédent : 005831; suivant : 005833Phenotypic overlap of Ehlers‐Danlos syndrome types IV and VIII
Auteurs : James K. Hartsfield Jr. ; Boris G. KousseffSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1990-12.
English descriptors
- KwdEn :
- Abnormal type, Alveolar bone loss, Atrophic scars, Biochemical analysis, Biochemical defect, Bruisability, Byers, Centile, Chief complaint, Cigarette paper scars, Clinical manifestations, Clinical sign, Collagen, Collagen formation, Collagen type, Collagenous proteins, Connective tissue, Considerable overlap, Cultured skin fibroblasts, Early periodontitis, Easy bruisability, Ecchymotic, Ecchymotic pretibial lesions, Fibroblast, First report, Fragile skin, Further studies, Genet byers, Hand length, Heritable disorders, Joint hypermobility, Joint laxity, Lesion, Lysyl hydroxylase, Lysyl hydroxylase activity, Mandibular, Marfanoid habitus, Maxillary right, Mckusick, Medical genetics, Mendelian inheritance, Necrobiosis lipoidica diabeticorum, Online version, Periodontal, Periodontal disease, Periodontitis, Permanent teeth, Pretibial lesions, Same laboratory, Severe periodontitis, Structural defect, Syndrome, Syndrome type, Thin skin, Third finger length, Tooth mobility, Total collagen, Total hand length, Type viii, Variable gingival recession, Varicose veins, Venous pattern, Viii.
- Teeft :
- Abnormal type, Alveolar bone loss, Atrophic scars, Biochemical analysis, Biochemical defect, Bruisability, Byers, Centile, Chief complaint, Cigarette paper scars, Clinical manifestations, Clinical sign, Collagen, Collagen formation, Collagen type, Collagenous proteins, Connective tissue, Considerable overlap, Cultured skin fibroblasts, Early periodontitis, Easy bruisability, Ecchymotic, Ecchymotic pretibial lesions, Fibroblast, First report, Fragile skin, Further studies, Genet byers, Hand length, Heritable disorders, Joint hypermobility, Joint laxity, Lesion, Lysyl hydroxylase, Lysyl hydroxylase activity, Mandibular, Marfanoid habitus, Maxillary right, Mckusick, Medical genetics, Mendelian inheritance, Necrobiosis lipoidica diabeticorum, Online version, Periodontal, Periodontal disease, Periodontitis, Permanent teeth, Pretibial lesions, Same laboratory, Severe periodontitis, Structural defect, Syndrome, Syndrome type, Thin skin, Third finger length, Tooth mobility, Total collagen, Total hand length, Type viii, Variable gingival recession, Varicose veins, Venous pattern, Viii.
Abstract
An 18‐year‐old Caucasian woman has been followed since age 12 years for Ehlers‐Danlos syndrome (EDS) with easy bruisability and “cigarette paper scars.” Her chief complaint at age 17 years was tooth mobility, especially in the anterior mandible, necessitating the removal of the four incisors. Initial biochemical analysis of cultured skin fibroblasts indicated the presence of pepsin‐sensitive type III collagen. Subsequent analysis of cultured skin fibroblasts by the same laboratory and another laboratory found no abnormality in the type III collagen with or without protease treatment. This is in distinction to the finding of abnormal type III collagen in the only two reported patients with EDS and early‐onset periodontitis who have had collagen analyses. One of them was diagnosed as EDS type IV and the other as EDS type VIII, although the defects of type III collagen were consistent with EDS type IV. The defect in type III collagen in some patients with early periodontitis and the considerable overlap of the clinical manifestations of EDS types IV and VIII point out the need for further studies of collagen formation and maturation in any patient who has early periodontitis and who has been classified with EDS type IV or VIII.
Url:
DOI: 10.1002/ajmg.1320370408
Links to Exploration step
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<front><div type="abstract" xml:lang="en">An 18‐year‐old Caucasian woman has been followed since age 12 years for Ehlers‐Danlos syndrome (EDS) with easy bruisability and “cigarette paper scars.” Her chief complaint at age 17 years was tooth mobility, especially in the anterior mandible, necessitating the removal of the four incisors. Initial biochemical analysis of cultured skin fibroblasts indicated the presence of pepsin‐sensitive type III collagen. Subsequent analysis of cultured skin fibroblasts by the same laboratory and another laboratory found no abnormality in the type III collagen with or without protease treatment. This is in distinction to the finding of abnormal type III collagen in the only two reported patients with EDS and early‐onset periodontitis who have had collagen analyses. One of them was diagnosed as EDS type IV and the other as EDS type VIII, although the defects of type III collagen were consistent with EDS type IV. The defect in type III collagen in some patients with early periodontitis and the considerable overlap of the clinical manifestations of EDS types IV and VIII point out the need for further studies of collagen formation and maturation in any patient who has early periodontitis and who has been classified with EDS type IV or VIII.</div>
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<abstract>An 18‐year‐old Caucasian woman has been followed since age 12 years for Ehlers‐Danlos syndrome (EDS) with easy bruisability and “cigarette paper scars.” Her chief complaint at age 17 years was tooth mobility, especially in the anterior mandible, necessitating the removal of the four incisors. Initial biochemical analysis of cultured skin fibroblasts indicated the presence of pepsin‐sensitive type III collagen. Subsequent analysis of cultured skin fibroblasts by the same laboratory and another laboratory found no abnormality in the type III collagen with or without protease treatment. This is in distinction to the finding of abnormal type III collagen in the only two reported patients with EDS and early‐onset periodontitis who have had collagen analyses. One of them was diagnosed as EDS type IV and the other as EDS type VIII, although the defects of type III collagen were consistent with EDS type IV. The defect in type III collagen in some patients with early periodontitis and the considerable overlap of the clinical manifestations of EDS types IV and VIII point out the need for further studies of collagen formation and maturation in any patient who has early periodontitis and who has been classified with EDS type IV or VIII.</abstract>
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<p>An 18‐year‐old Caucasian woman has been followed since age 12 years for Ehlers‐Danlos syndrome (EDS) with easy bruisability and “cigarette paper scars.” Her chief complaint at age 17 years was tooth mobility, especially in the anterior mandible, necessitating the removal of the four incisors. Initial biochemical analysis of cultured skin fibroblasts indicated the presence of pepsin‐sensitive type III collagen. Subsequent analysis of cultured skin fibroblasts by the same laboratory and another laboratory found no abnormality in the type III collagen with or without protease treatment. This is in distinction to the finding of abnormal type III collagen in the only two reported patients with EDS and early‐onset periodontitis who have had collagen analyses. One of them was diagnosed as EDS type IV and the other as EDS type VIII, although the defects of type III collagen were consistent with EDS type IV. The defect in type III collagen in some patients with early periodontitis and the considerable overlap of the clinical manifestations of EDS types IV and VIII point out the need for further studies of collagen formation and maturation in any patient who has early periodontitis and who has been classified with EDS type IV or VIII.</p>
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<abstract lang="en">An 18‐year‐old Caucasian woman has been followed since age 12 years for Ehlers‐Danlos syndrome (EDS) with easy bruisability and “cigarette paper scars.” Her chief complaint at age 17 years was tooth mobility, especially in the anterior mandible, necessitating the removal of the four incisors. Initial biochemical analysis of cultured skin fibroblasts indicated the presence of pepsin‐sensitive type III collagen. Subsequent analysis of cultured skin fibroblasts by the same laboratory and another laboratory found no abnormality in the type III collagen with or without protease treatment. This is in distinction to the finding of abnormal type III collagen in the only two reported patients with EDS and early‐onset periodontitis who have had collagen analyses. One of them was diagnosed as EDS type IV and the other as EDS type VIII, although the defects of type III collagen were consistent with EDS type IV. The defect in type III collagen in some patients with early periodontitis and the considerable overlap of the clinical manifestations of EDS types IV and VIII point out the need for further studies of collagen formation and maturation in any patient who has early periodontitis and who has been classified with EDS type IV or VIII.</abstract>
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