Ultrastructural alterations of elastic fibers and other dermal components in Ehlers-Danlos syndrome of the hypermobile type

American Journal of Dermatopathology

Volumn 29, Issue 4, 2007, Pages 370-373

  Hermanns Lê, Trinh ^a   Piérard, Gérald E ^a  

^a UNIVERSITY OF LIÈGE   (Belgium)

Author keywords

Collagen; Ehlers Danlos syndrome; Elastic fiber; Hypermobile; Ultrastructure

Indexed keywords

COLLAGEN FIBRIL; HYALURONIC ACID;

ADOLESCENT; ADULT; ARTICLE; CALCIFICATION; CHILD; CLINICAL ARTICLE; EHLERS DANLOS SYNDROME; ELASTIC FIBER; HUMAN; HUMAN TISSUE; MORPHOLOGY; PRIORITY JOURNAL; SKIN STRUCTURE; ULTRASTRUCTURE;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; COLLAGEN; EHLERS-DANLOS SYNDROME; ELASTIC TISSUE; FIBRILLAR COLLAGENS; HUMANS; HYALURONIC ACID; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; SKIN;

EID: 34547678047     PISSN: 01931091     EISSN: None     Source Type: Journal    
DOI: 10.1097/DAD.0b013e3180de3ec0     Document Type: Article

References (22)

1. Beighton P, De Paepe A, Steinmann B, et al. Ehlers-Danlos syndromes: revised nosology, Villefranche 1997. Am J Human Genet. 1998;77:31-37.
2. Henry F, Goffin V, Piérard-Franchimont C, et al. Mechanical properties of skin in Ehlers-Danlos syndrome, types I, II and III. Ped Dermatol. 1996;13:464-467.
3. Hermanns-Lê T, Piérard GE. The Ehlers-Danlos syndrome: a revisited centenarian. Skin. 2000;3:138-141.
4. Holbrook KA, Byers PH. Structural abnormalities in the dermal collagen and elastic matrix from the skin of patient with inherited connective tissue disorders. J Invest Dermatol. 1982;79:S7-S16.
5. Piérard GE, Piérard-Franchimont C, Lapière ChM. Histopathology aid at the diagnosis of the Ehlers-Danlos syndrome, gravis and mitis types. Int J Dermatol. 1983;22:300-304.
6. Piérard GE, Lê T, Hermanns JF, et al. Morphometric study of cauliflower collagen fibrils in dermatosparaxis of the calves. Coll Rel Res. 1986;6:481-492.
7. Piérard GE, Lê T, Piérard-Franchimont C, et al. Morphometric study of cauliflower collagen fibrils in Ehlers-Danlos syndrome type I. Coll Rel Res. 1988;8:453-457.
8. Piérard GE, Hermanns-Lê T, Arrese Estrada J, et al. Structure of the dermis in type VIIc Ehlers-Danlos syndrome. Am J Dermatopathol. 1993;15:127-132.
9. Hausser I, Anton-Lamprecht I. Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostic and classification. Hum Genet. 1994;3:394-407.
10. Hermanns-Lê T. How I explore some cutaneous disorders using ultrastructural examination of the skin. Rev Med Liège. 2000;55:954-956.
11. Hermanns-Lê T, Piérard GE. The collagen fibril arabesques in connective tissue disorders. Am J Clin Dermatol. 2006;7:323-326.
12. Zweers MC, van Vlijmen-Willems IM, van Kuppevelt TH, et al. Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J Invet Dermatol. 2004;122:885-891.
13. Sweers MC, Dean WB, Van Kuppevelt TH, et al. Elastic fibers abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations. Clin Genet. 2005;67:330-334.
14. Byers PH. Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity. J Invest Dermatol. 1994;103:S47-S52.
15. Nusgens BV, Verellen-Dumoulin Ch, Hermanns-Lê T, et al. Evidence for a relationship between Ehlers-Danlos type VIIc in humans and bovine dermatosparaxis. Nat Genet. 1992;1:214-217.
16. Mao Jr, Bristow J. The Ehlers-Danlos syndrome: on beyond collagens. J Clin Invest. 2001;107:1063-1069.
17. Schalkwijk J, Zweers MC, Steijlen PM, et al. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med. 2001;345:1167-1175.
18. Hashimoto K, DiBella RJ. Electron microscopic studies of normal and abnormal elastic fibers of the skin. J Invest Dermatol. 1967;48:405-423.
19. Ross R, Fialkow PJ, Altman LK. Fine structure alterations of elastic fibers in pseudoxanthoma elasticum. Clin Genet. 1978;13:213-223.
20. Bobryshev YV. Calcification of elastic fibers in human atherosclerotic plaque. Atherosclerosis. 2005;180:293-303.
21. Noble PW. Hyaluronan and its catabolic products in tissue injury and repair. Matrix Biol. 2002;21:25-29.
22. Kalund S, Hogsa B, Grevy C, et al. Reduced strength of skin in Ehlers-Danlos syndrome, type III. Scand J Rheumatol. 1990;19:67-70.