[en] The distinction between the Ehlers-Danlos syndrome hypermobile type (EDSH) and the benign joint hypermobility syndrome (BJHS) is unclear. The aim of the present study was to compare skin ultrastructural abnormalities of EDSH and BJHS among different families. Skin of 23 EDSH, 27 BJHS, and 41 asymptomatic subjects from 17 families was examined using transmission electron microscopy. Similar ultrastructural abnormalities were found irrespective of the Beighton score. Flower-like collagen fibrils represented the key change and elastic fibers were altered as well. Beighton score is a clinical parameter rating joint mobility that appeared unrelated to quantitative and qualitative collagen ultrastructural alterations in the skin. Some EDSH family members fit with BJHS diagnosis. BJHS possibly represents a mild variant of EDSH.
Disciplines :
Dermatology
Author, co-author :
Hermanns-Lê, Trinh ; Centre Hospitalier Universitaire de Liège - CHU > Dermatopathologie
Franchimont, Claudine ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Département des sciences biomédicales et précliniques
Delvenne, Philippe ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Anatomie et cytologie pathologiques
PIERARD, Gérald ; Centre Hospitalier Universitaire de Liège - CHU > Dermatopathologie
Manicourt, Daniel
Language :
English
Title :
Dermal ultrastructure in low Beighton score members of 17 families with hypermobile-type Ehlers-Danlos syndrome.
Beighton P., de Paepe A., Steinmann B., Tsipouras P., Wenstrup R. J., Ehlers-Danlos syndrome: revised nosology, Villefranche, 1997. American Journal of Medical Genetics 77 1 31 37
Henry F., Goffin V., Piérard-Franchimont C., Piérard G. E., Mechanical properties of skin in Ehlers-Danlos syndrome, types I, II, and III. Pediatric Dermatology 1996 13 6 464 467 2-s2.0-0030465444 (Pubitemid 27009812)
Seçkin U., Tur B. S., Yilmaz O., Yaci I., Bodur H., Arasil T., The prevalence of joint hypermobility among high school students. Rheumatology International 2005 25 4 260 263 2-s2.0-20044393684 10.1007/s00296-003-0434-9 (Pubitemid 40767829)
Everman D. B., Robin N. H., Hypermobility syndrome. Pediatrics in Review 1998 19 4 111 117 2-s2.0-0032042059
Simpson M. R., Benign joint hypermobility syndrome: evaluation, diagnosis, and management. Journal of the American Osteopathic Association 2006 106 9 531 536 2-s2.0-33750689863 (Pubitemid 44704011)
Al-Rawi Z. S., Al-Aszawi A. J., Al-Chalabi T., Joint mobility among university students in Iraq. British Journal of Rheumatology 1985 24 4 326 331 2-s2.0-0022235471 (Pubitemid 16250725)
Birrell F. N., Adebajo A. O., Hazleman B. L., Silman A. J., High prevalence of joint laxity in West Africans. British Journal of Rheumatology 1994 33 1 56 59 2-s2.0-0028047346 (Pubitemid 24042038)
Narcisi P., Richards A. J., Ferguson S. D., Pope F. M., A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen. Human Molecular Genetics 1994 3 9 1617 1620 2-s2.0-0027936493
Zweers M. C., Dean W. B., van Kuppevelt T. H., Bristow J., Schalkwijk J., Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations. Clinical Genetics 2005 67 4 330 334 2-s2.0-15844369376 10.1111/j.1399-0004.2005.00401.x (Pubitemid 40424829)
Hausser I., Anton-Lamprecht I., Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification. Human Genetics 1994 93 4 394 407 2-s2.0-0028220223 (Pubitemid 24106464)
Kobayasi T., Abnormality of dermal collagen fibrils in Ehlers Danlos syndrome. Anticipation of the abnormality for the inherited hypermobile disorders. European Journal of Dermatology 2004 14 4 221 229 2-s2.0-3543092231 (Pubitemid 39024227)
Hermanns-Lê T., Piérard G. E., Ultrastructural alterations of elastic fibers and other dermal components in Ehlers-Danlos syndrome of the hypermobile type. American Journal of Dermatopathology 2007 29 4 370 373 2-s2.0-34547678047 10.1097/DAD.0b013e3180de3ec0 (Pubitemid 47220488)
Grahame R., Bird H. A., Child A., The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). Journal of Rheumatology 2000 27 7 1777 1779 2-s2.0-0033909531 (Pubitemid 30462827)
Grahame R., Joint hypermobility and genetic collagen disorders: are they related? Archives of Disease in Childhood 1999 80 2 188 191 2-s2.0-0032987578 (Pubitemid 29119738)
Grahame R., Heritable disorders of connective tissue. Bailliere's Best Practice and Research in Clinical Rheumatology 2000 14 2 345 361 2-s2.0-0033931848 10.1053/berh.1999.0069 (Pubitemid 30487526)
Adib N., Davies K., Grahame R., Woo P., Murray K. J., Joint hypermobility syndrome in childhood. A not so benign multisystem disorder? Rheumatology 2005 44 6 744 750 2-s2.0-24944514038 10.1093/rheumatology/keh557 (Pubitemid 41487202)
Zweers M. C., Kucharekova M., Schalkwijk J., Tenascin-X: a candidate gene for benign joint hypermobility syndrome and hypermobility type Ehlers-Danlos syndrome? Annals of the Rheumatic Diseases 2005 64 3 504 505 2-s2.0-14144250372 10.1136/ard.2004.026559 (Pubitemid 40283075)
Hermanns-Lê T., Piérard G. E., Collagen fibril arabesques in connective tissue disorders. American Journal of Clinical Dermatology 2006 7 5 323 326 2-s2.0-34347251262 10.2165/00128071-200607050-00006 (Pubitemid 46998582)
