scholarly journals Ehlers-Danlos Syndrome—Hypermobility Type and Hemorrhoids

2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Timothy P. Plackett ◽  
Edward Kwon ◽  
Ronald A. Gagliano ◽  
Robert C. Oh
Keyword(s):  
Connective Tissue ◽  
Musculoskeletal Pain ◽  
Clinical Examination ◽  
Connective Tissue Disorder ◽  
Chronic Musculoskeletal Pain ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Ehlers-Danlos syndrome-hypermobility type (EDS-HT) is a connective tissue disorder associated with chronic musculoskeletal pain. The diagnosis is based on simple clinical examination, although it is easily overlooked. Herein we present a case of EDS-HT associated with hemorrhoids and suggest that there may be an association between the two conditions.

Facial subcutaneous emphysema in a patient with connective tissue disorder

2021 ◽  
Vol 14 (5) ◽  
pp. e232399
Author(s):  
Jon Curtis ◽  
Nicola Rachel Wooles ◽  
David Phillips
Keyword(s):  
Emergency Department ◽  
Connective Tissue ◽  
Subcutaneous Emphysema ◽  
English Literature ◽  
Connective Tissue Disorder ◽  
Sudden Onset ◽  
Prophylactic Antibiotics ◽  
Ehlers Danlos Syndrome ◽  
Nasal Cartilage ◽  
Danlos Syndrome

A 47-year-old woman presented to the emergency department with sudden onset of swelling in her face, which had been triggered by blowing her nose. She had no other symptoms, but was known to have Ehlers-Danlos syndrome. A CT confirmed bilateral subcutaneous facial emphysema attributed to a defect in her left nasal cartilage. The condition was managed conservatively with prophylactic antibiotics and self-resolved within 48 hours. Only eight cases of sudden facial subcutaneous emphysema following nose blowing or sneezing have been found in the English literature and this is the first known case in a patient with a connective tissue disorder. In this case, her condition is suspected to have contributed to her presentation and may be underlying in other similar cases.

Thumb carpometacarpal arthritis in patients with Ehlers-Danlos Syndrome: non-operative and operative experiences

2018 ◽  
Vol 44 (2) ◽  
pp. 161-166
Author(s):  
Mario Hevesi ◽  
Arif R. Chaudhry ◽  
Eric R. Wagner ◽  
Steven L. Moran
Keyword(s):  
Connective Tissue ◽  
Conservative Therapy ◽  
Surgical Intervention ◽  
Connective Tissue Disorder ◽  
Level Of Evidence ◽  
Ehlers Danlos Syndrome ◽  
Subjective Pain ◽  
Thumb Carpometacarpal ◽  
Danlos Syndrome ◽  
Over Time

Ehlers-Danlos Syndrome is a connective tissue disorder that results in joint and generalized tissue hyperlaxity, predisposing patients to early onset arthritis. An institutional database spanning 1999–2016 was reviewed for all patients with symptomatic carpometacarpal arthritis and coexisting Ehlers-Danlos Syndrome, resulting in 14 thumbs amongst nine patients followed clinically for a median of 5.9 years (range 1–15). Patients managed non-operatively demonstrated stable subjective pain and trended towards decreased range of motion over time, whereas patients managed operatively had significant improvements in pain and trended towards increased grip strength. Our findings suggest that patients with Ehlers-Danlos-associated carpometacarpal arthritis can be successfully managed both operatively and non-operatively and that patients with pain refractory to conservative therapy may benefit from relief and increased hand strength following surgical intervention. Level of evidence: IV

scholarly journals The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases

Genes ◽  
2020 ◽  
Vol 11 (4) ◽  
pp. 420 ◽  
Author(s):  
Camille Kumps ◽  
Belinda Campos-Xavier ◽  
Yvonne Hilhorst-Hofstee ◽  
Carlo Marcelis ◽  
Marius Kraenzlin ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Short Stature ◽  
Connective Tissue Disorder ◽  
Zinc Transporter ◽  
Facial Features ◽  
Transporter Gene ◽  
Ehlers Danlos Syndrome ◽  
Type 3 ◽  
Danlos Syndrome

Recessive loss-of-function variants in SLC39A13, a putative zinc transporter gene, were first associated with a connective tissue disorder that is now called “Ehlers–Danlos syndrome, spondylodysplastic form type 3” (SCD-EDS, OMIM 612350) in 2008. Nine individuals have been described. We describe here four additional affected individuals from three consanguineous families and the follow up of two of the original cases. In our series, cardinal findings included thin and finely wrinkled skin of the hands and feet, characteristic facial features with downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia, or oligodontia, and—in contrast to most types of Ehlers–Danlos syndrome—significant short stature of childhood onset. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. Two of our patients developed severe keratoconus, and two suffered from cerebrovascular accidents in their twenties, suggesting that there may be a vascular component to this condition. All patients tested had a significantly reduced ratio of the two collagen-derived crosslink derivates, pyridinoline-to-deoxypyridinoline, in urine, suggesting that this simple test is diagnostically useful. Additionally, analysis of the facial features of affected individuals by DeepGestalt technology confirmed their specificity and may be sufficient to suggest the diagnosis directly. Given that the clinical presentation in childhood consists mainly of short stature and characteristic facial features, the differential diagnosis is not necessarily that of a connective tissue disorder and therefore, we propose that SLC39A13 is included in gene panels designed to address dysmorphism and short stature. This approach may result in more efficient diagnosis.

scholarly journals Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Delia Lorenz ◽  
Wolfram Kress ◽  
Ann-Kathrin Zaum ◽  
Christian P. Speer ◽  
Helge Hebestreit
Keyword(s):  
Connective Tissue ◽  
Short Stature ◽  
Connective Tissue Disorder ◽  
Joint Hypermobility ◽  
Compound Heterozygous ◽  
Ehlers Danlos Syndrome ◽  
Craniofacial Features ◽  
Chain Synthesis ◽  
Compound Heterozygous Variants ◽  
Danlos Syndrome

Abstract Background The spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by a combination of connective tissue symptoms, skeletal features and short stature. It is caused by variants in genes encoding for enzymes involved in the proteoglycan biosynthesis or for a zinc transporter. Presentation of cases We report two brothers with a similar phenotype of short stature, joint hypermobility, distinct craniofacial features, developmental delay and severe hypermetropia indicative for a spondylodysplastic Ehlers-Danlos subtype. One also suffered from a recurrent pneumothorax. Gene panel analysis identified two compound heterozygous variants in the B4GALT7 gene: c.641G > A and c.723 + 4A > G. B4GALT7 encodes for galactosyltransferase I, which is required for the initiation of glycosaminoglycan side chain synthesis of proteoglycans. Conclusions This is a first full report on two cases with spondylodysplastic Ehlers-Danlos syndrome and the c.723 + 4A > G variant of B4GALT7. The recurrent pneumothoraces observed in one case expand the variable phenotype of the syndrome.

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