Trachea Rupture in Tenascin-X-deficient Type Ehlers–Danlos Syndrome

Besselink-Lobanova, Anna; Maandag, Natasja J G; Voermans, Nicol C.; Heijden, Erik H F M van der; Hoeven, Johannes G. van der; Heunks, Leo

doi:10.1097/aln.0b013e3181e19c0f

Cited by 11 publications

(12 citation statements)

References 19 publications

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“…Specific management guidelines may include: MusculoskeletalIn case of operations, special attention for the effect of general anesthesia and of adequate positioning and support is important to prevent pressure or stretch neuropathies [Voermans et al, ]. Furthermore, intubation and endoscopic studies should be performed carefully in order to prevent rupture of trachea or esophagus [Besselink‐Lobanova et al, ; Hendriks et al, ] PregnancyGynecological follow‐up throughout pregnancy is not warranted based on the retrospective study in five patients [Egging et al, ]. However, the severe complications that have been reported during insertion of a trachea tube and a transesophageal ultrasound probe call for a very careful handling of patients, especially in emergency situations.…”

Section: Classical‐like Eds Due To Tenascin‐x Deficiency (Cleds)mentioning

confidence: 99%

“…In case of operations, special attention for the effect of general anesthesia and of adequate positioning and support is important to prevent pressure or stretch neuropathies [Voermans et al, ]. Furthermore, intubation and endoscopic studies should be performed carefully in order to prevent rupture of trachea or esophagus [Besselink‐Lobanova et al, ; Hendriks et al, ]…”

Section: Classical‐like Eds Due To Tenascin‐x Deficiency (Cleds)mentioning

confidence: 99%

“…This 32‐year female patient was described to have recurrent (sub)luxations, hypermobile joints, hyperextensible, and velvety skin that easily bruises, musculoskeletal pain, and CAH. Besselink‐Lobanova et al [] presented the follow‐up of this case in order to draw attention to the severe complications encountered during intubation. During elective surgery at the age of 41 years (because of a luxation of the left knee joint) a tracheal rupture developed, despite the initially uneventful intubation.…”

Section: The Contiguous Gene Syndrome With Congenital Adrenal Hyperplmentioning

confidence: 99%

“…The authors acknowledge that the patient had other anatomic risk factors for a tracheal rupture (obesity and short stature for example). However, the authors also state that TNX alters the characteristics of the ECM and therefore advise caution when intubating patients with TNX‐deficiency, or even to refrain from intubating entirely [Besselink‐Lobanova et al, ].…”

Section: The Contiguous Gene Syndrome With Congenital Adrenal Hyperplmentioning

confidence: 99%

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The Ehlers–Danlos syndromes, rare types

Brady¹,

Demirdas²,

Fournel‐Gigleux³

et al. 2017

American J of Med Genetics Pt C

187

288

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The Ehlers–Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen‐modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS‐variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes. Advances in molecular testing have made it possible to now identify the causative mutation for many patients presenting these phenotypes. The aim of this literature review is to summarize the current knowledge on the rare EDS subtypes and highlight areas for future research. © 2017 Wiley Periodicals, Inc.

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Section: Classical‐like Eds Due To Tenascin‐x Deficiency (Cleds)mentioning

confidence: 99%

Section: Classical‐like Eds Due To Tenascin‐x Deficiency (Cleds)mentioning

confidence: 99%

Section: The Contiguous Gene Syndrome With Congenital Adrenal Hyperplmentioning

confidence: 99%

Section: The Contiguous Gene Syndrome With Congenital Adrenal Hyperplmentioning

confidence: 99%

See 2 more Smart Citations

The Ehlers–Danlos syndromes, rare types

Brady¹,

Demirdas²,

Fournel‐Gigleux³

et al. 2017

American J of Med Genetics Pt C

187

288

View full text Add to dashboard Cite

show abstract

“…Endotracheal intubation should be performed with the smallest acceptable endotracheal tube and cuff pressures should be minimized. There has been one reported case of tracheal rupture after intubation [39]. Patients with gastroparesis should be considered full stomach at all times.…”

Section: Intraoperativementioning

confidence: 99%

Perioperative Care in Patients with Ehlers Danlos Syndromes

Chopra¹,

Bluestein²

2020

OJAnes

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Background: There is an increasing recognition of patients with Ehlers Danlos Syndromes. The laxity of the ligaments and the weakness of the connective tissue has resulted in increasing number of patients requiring surgical intervention. Ehlers Danlos Syndromes are not about hypermobile joints only, they are associated with multiple co-existing conditions such as Chiari malformation, Tethered Cord Syndrome, spinal instability, abdominal pain, Dysautonomia and Mast Cell Activation Syndrome. The combined incidence of Ehlers Danlos Syndromes is 1 in 5000 people. Most experts believe that the actual incidence is much higher. Many of these cases are under-diagnosed. Nevertheless, patients with Ehlers Danlos Syndromes, diagnosed or undiagnosed often require surgical intervention. This review article has been written to shed light on the need for special consideration during anesthesia. Objectives: Our objective was to conduct a review of anesthetic considerations in patients with Ehlers Danlos Syndromes. Study Design: We used a narrative review design.

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Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes

Joseph

Francomano

et al. 2018

JAMA Facial Plast Surg

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IMPORTANCE Ehlers-Danlos syndromes (EDSs) are a group of heritable connective tissue disorders. Patients with EDSs can develop excessive facial rhytids, nasal deformities, and facial scarring, for which they may seek consultation with a facial plastic surgeon. Ehlers-Danlos syndromes can be associated with serious surgical complications and should be identified preoperatively to facilitate optimal treatment. To our knowledge, no management guidelines for patients with EDSs exist in the facial plastic surgery literature. We present a review of the literature and management recommendations for the facial plastic surgeon.OBSERVATIONS We performed a PubMed/MEDLINE search for all publications in the English language related to surgical experience in patients with EDSs. A total of 37 publications (including reviews and case series) were included. Ehlers-Danlos syndromes are more common than appreciated, with an overall point prevalence between 1 in 2500 and 1 in 5000 according to existing literature. There are 6 main subtypes of EDSs that have significant phenotypic heterogeneity. Patients with classic type and hypermobile EDS (the 2 most common subtypes) can typically undergo elective facial plastic surgery without major complications. However, specific preoperative, intraoperative, and postoperative issues, as outlined in this review, must be taken into consideration. Vascular EDS should serve as a contraindication to elective surgery given its potential for life-threatening complications.CONCLUSIONS AND RELEVANCE Because of their skin laxity, patients with EDSs may present more frequently to facial plastic surgeons' offices. Simple screening questions can help the surgeon identify potential patients with EDSs. Treatment should be individualized and performed with extreme care to ensure optimal outcomes.

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Trachea Rupture in Tenascin-X-deficient Type Ehlers–Danlos Syndrome

Cited by 11 publications

References 19 publications

The Ehlers–Danlos syndromes, rare types

The Ehlers–Danlos syndromes, rare types

Perioperative Care in Patients with Ehlers Danlos Syndromes

Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes

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