Deficiency of Tenascin-X Causes Abnormalities in Dermal Elastic Fiber Morphology

Zweers, Manon C.; Vlijmen-Willems, I.M. van; Kuppevelt, Toin H. Van; Mecham, Robert P.; Steijlen, P.M.; Bristow, Jim; Schalkwijk, Joost

doi:10.1111/j.0022-202x.2004.22401.x

Cited by 73 publications

(83 citation statements)

References 32 publications

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“…Mutations in COL3A1 result in vascular-type EDS. Recently, Zweers et al (22)(23)(24) suggested that a Tenascin-X mutation could well be a candidate for joint hypermobility. Those authors believe that complete or partial deficiency (haploinsufficiency) of Tenascin-X can result in 2 distinct hereditary CTDs in which hypermobility is present, indicating that Tenascin-X has an essential role in the mechanical properties of skin, ligaments, and tendons (23).…”

Section: Discussionmentioning

confidence: 99%

Clinical study of hereditary disorders of connective tissues in a Chilean population

Bravo¹,

Wolff²

2006

Arthritis & Rheumatism

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Objective. To demonstrate the high frequency and lack of diagnosis of joint hypermobility syndrome (JHS) and the seriousness of vascular Ehlers-Danlos syndrome (VEDS).Methods. Two hundred forty-nine Chilean patients with hereditary disorders of the connective tissues (CTDs) and 64 control subjects were evaluated for the diagnoses of JHS and VEDS using the validated Brighton criteria, as compared with the traditional Beighton score. In addition, the presence of blue sclera was determined, with the degree of intensity graded as mild, moderate, or marked.Results. The frequency of hereditary CTDs was 35%, with diagnoses of JHS in 92.4% of subjects, VEDS in 7.2%, and osteogenesis imperfecta in 0.4%. The Beighton score proved to be insufficient for the diagnosis of JHS (35% of subjects had a negative score), whereas the Brighton criteria yielded positive findings (a diagnosis of JHS) in 39% of control subjects. Blue sclera was frequent, being identified in 97% of JHS patients and 94% of VEDS patients. Moderate osteopenia/osteoporosis was observed in 50% of patients with VEDS and 26% of those with JHS. Dysautonomia, dyslipidemia, and scoliosis were more frequent in VEDS patients than in JHS patients. The typical JHS facial appearance and the "hand holding the head sign" were identified. Raynaud's phenomenon was extremely rare in JHS patients (2%). Ruptured uterus and cerebral aneurysm occurred in 12% and 6% of VEDS patients, respectively. Spontaneous pneumothorax was more frequent in VEDS patients (11%) than in JHS patients (0.9%).Conclusion. JHS is very frequent but usually undiagnosed. The Beighton score is an insufficient method for JHS diagnosis. We recommend that physicians learn to recognize the typical facial features of JHS and be able to identify blue sclera. We also propose that validated hypermobility criteria be routinely used. Further research is needed to determine why the prevalence of JHS is so high in Chile.Hippocrates first described hypermobile joints 2,400 years ago, but the condition of joint hypermobility was not described as a medical problem until 1967, by Kirk et al (1). Although many people have hypermobile joints, the general public as well as many physicians consider hypermobility to be a curiosity rather than a potentially serious medical problem (2,3). The prevalence of hypermobility is difficult to evaluate because it varies with age, sex, and ethnic background and because multiple criteria are being used. It is more frequent in female subjects and children, is more frequent in Asian than in black populations, and is more frequent in both Asian and black populations than in whites. It is generally agreed that it exists in ϳ10% of individuals in Western populations (4) and up to 25% in Iraqis (5). Most cases of joint hypermobility are pauciarticular rather than generalized, which makes the diagnosis more difficult. Because of this, many people are unaware of having lax joints (6). In spite of this laxity in the joints, most people with hypermobility do not experience joint or musculoskelet...

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Section: Discussionmentioning

confidence: 99%

Clinical study of hereditary disorders of connective tissues in a Chilean population

Bravo¹,

Wolff²

2006

Arthritis & Rheumatism

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“…They were able to confirm normal appearing fibrils and reduced collagen content, but also noticed irregular and immature elastin fibers containing few or no microfibrils [36]. Elastin staining showed absence of fine elastic fibers in papillary dermis and fragmented or clumped elastic fibers in reticular dermis.…”

Section: Tenascin-x Elastogenesis and Matrix Remodelingmentioning

confidence: 93%

Tenascin‐X, collagen, elastin, and the Ehlers–Danlos syndrome

Bristow

Carey

Egging

et al. 2005

American J of Med Genetics Pt C

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105

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Francisco. He was involved in the original cloning of tenascin-X and has spent the past decade using genetic approaches to understand the functions of tenascins in disease.2. William Carey is a neonatologist and Instructor in Pediatrics at the University of California, San Francisco. He is studying the role of tenascin-X and tenascin-C in pathologic fibrosis. Tenascin-X serves as a compelling example of how human "experiments of nature" can guide us to an understanding of genes whose function may not be evident from their sequence or in vitro studies of their encoded proteins.

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“…At the light microscopic level, it was apparent that the typical candelabra structures at the dermal-epidermal junction were disrupted, and the length of the fibers was dramatically reduced. Ultrastructure examination of the dermis showed abnormalities in both the microfibrillar and the elastin component in all tenascin-X-deficient patients with EDS (61). Whether the abnormalities arise during development by aberrant deposition of the elastic fibers or appear later in life by degradation of the elastic fiber is not known.…”

Section: Tenascin-x Deficiency and Elastic Fiber Abnormalitiesmentioning

confidence: 99%

Joint hypermobility syndromes: The pathophysiologic role of tenascin‐X gene defects

Zweers¹,

Hakim²,

Grahame³

et al. 2004

Arthritis & Rheumatism

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Deficiency of Tenascin-X Causes Abnormalities in Dermal Elastic Fiber Morphology

Cited by 73 publications

References 32 publications

Clinical study of hereditary disorders of connective tissues in a Chilean population

Clinical study of hereditary disorders of connective tissues in a Chilean population

Tenascin‐X, collagen, elastin, and the Ehlers–Danlos syndrome

Joint hypermobility syndromes: The pathophysiologic role of tenascin‐X gene defects

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