Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report
- MedicineCase Reports in Dermatology
This work describes a Mexican case from consanguineous parents with all the phenotypical characteristics previously described, plus skeletal abnormalities, as well as new clinical criteria for EDS type VIIC.
Ehlers-Danlos syndrome: type VI A - kyphoscoliosis; a case report
A case of an adult male patient complaining of recurrent acne over the chin, axilla and pyoderma in the groin region since he was 14 years of age with a severely reduced Lysyl Hydroxylase (LH) activity in the skin fibroblast culture is presented.
Musculoskeletal manifestations of Ehlers-Danlos syndrome.
- Medicine, BiologyOrthopedic nursing
The pathogenesis of Ehlers-Danlos syndrome, as it relates to the musculoskeletal system, is presented.
Ehlers-Danlos Syndrome Presenting as Airway Obstruction and Hoarseness
The case of a 42-year-old female who presents with dyspnea and hoarseness and is diagnosed with classic Ehlers-Danlos syndrome is described, which means poor healing or abnormal scarring occurs post surgery.
Ehlers-Danlos syndrome and wound healing: injury in a collagen disorder.
- MedicineBritish journal of nursing
Manuka honey was used to reduce the level of invading bacilli and stimulate production of collagen, and the action of manuka honey appears to be beneficial in the management of complex wounds, and further research is needed to determine its value in EDS.
Peripheral nerve block in patients with Ehlers-Danlos syndrome, hypermobility type: a case series.
- MedicineJournal of clinical anesthesia
Desmopressin responsiveness in children with Ehlers‐Danlos syndrome associated bleeding symptoms
- MedicineBritish journal of haematology
Assessment of bleeding time responsiveness to desmopressin therapy in a cohort of children with EDS‐associated bleeding manifestations found it normalizes bleeding times in childrenwith EDS.
Difficulties in diagnosis and selection of optimal diagnostic methods for hypermobile Ehlers Danlos Syndrome – literature review
- MedicineMedycyna Ogólna i Nauki o Zdrowiu
In order to diagnose EDS-HT, one should be guided not only by the established standard, which is the Beighton score, but also by additional tests that would confirm the diagnostic decision and reduce the risk of error.
Ehlers-Danlos syndrome (Cutaneous asthenia) - a report of three cases in cats
The paper presents three cases of Ehlers–Danlos syndrome, very rarely found in cats, characterized by skin hyper-extensibility, which was based on physical examinations, and the results of additional testing.
Complexities of management of a urostomy in Ehlers-Danlos syndrome: a reflective account.
- MedicineBritish journal of nursing
A reflective account is offered (informed by Gibbs' Reflective Cycle) and the complexities of caring for an individual with EDS who undergoes stoma formation are illustrated and the author, a stoma care nurse, demonstrates how using purposeful reflection resulted in better understanding and awareness.
SHOWING 1-10 OF 26 REFERENCES
Clinical and Genetic Features of Vascular Ehlers-Danlos Syndrome
- MedicineAnnals of vascular surgery
Vascular Ehlers Danlos syndrome (EDS) is a rare autosomal dominant inherited disorder of connective tissue resulting from mutation of the COL3A1 gene encoding type III collagen. Affected individuals…
Ehlers-Danlos syndrome, classical type: case management.
- MedicineDermatology nursing
Symptoms and genetic basis of Ehlers-Danlos syndrome, suggestions for management, and resources available for health care providers, families, and patients with EDS are provided.
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
- MedicineThe New England journal of medicine
Although most affected patients survive the first and second major complications, Ehlers-Danlos syndrome type IV results in premature death, and the diagnosis should be considered in young people who come to medical attention because of uterine rupture during pregnancy or arterial or visceral rupture.
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
- BiologyAmerican journal of human genetics
It is shown that mutations in other fibrillar collagens can be causally involved in classical EDS and point to genetic heterogeneity of this disorder.
A survey of patients with Ehlers-Danlos syndrome.
- MedicineClinical orthopaedics and related research
A survey of 151 EDS patients showed a high percentage of the patients were classified as having Types I through IV, and Bracing and fusion appear to be the most commonly used methods of orthopedic care.
Hypermobility type of Ehlers–Danlos syndrome: influence of pregnancies
- MedicineClinical genetics
The evolution of two consecutive pregnancies in a 21-year-old woman diagnosed with an HT-EDS, showing an evolution showing no worsening of the articular symptoms after the pregnancies has not been emphasized in the literature.
Acceptance of disability and sense of coherence in individuals with Ehlers-Danlos syndrome.
- MedicineJournal of clinical nursing
It has been shown that the level of AD and SOC in individuals with EDS is similar to other patient groups, e.g. individuals with ostomy and with diabetes, and those working full-time accepted their disability to a greater degree than those on sick leave or disability pension.
Cutaneous signs in heritable disorders of the connective tissue.
- MedicineIndian journal of dermatology, venereology and leprology
Heritable disorders of the connective tissue are caused by genetic mutations affecting individual components like collagen and elastin or enzymes regulating their metabolism and present with widespread manifestations involving the skin as well as different systems.
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.
- Biology, MedicineThe Journal of investigative dermatology
Although the exons 3-5 or 14-16 encode protein domains that have not been previously recognized as crucial for ADAMTS-2 activity, the aminoprocollagen processing was strongly impaired in vitro and in vivo, providing evidence for the requirement of these domains for proper enzyme function.