scholarly journals Ehlers–Danlos Syndrome: Not Just Joint Hypermobility

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Tina Bregant ◽  
Milica Klopcic Spevak
Keyword(s):  
Back Pain ◽  
Connective Tissue ◽  
Severe Pain ◽  
Joint Hypermobility ◽  
Connective Tissue Disorders ◽  
Skin Texture ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Ehlers–Danlos syndrome is an umbrella term for a group of heritable soft connective tissue disorders which is characterized by joint hypermobility, skin texture and elasticity abnormalities, and visceral and vascular fragility or dysfunctions. As the syndrome is rare, it is often underdiagnosed. Patients usually present late, with chronic moderate to severe pain which is attributed to the joint hypermobility and joint subluxations. If the clinician is aware of the syndrome, he/she can identify affected patients in order to prevent complications. We report a 60-year-old woman with arthralgia and back pain lasting for several months and recent metatarsophalangeal luxation of the left toe who was discovered to have Ehlers–Danlos syndrome.

scholarly journals A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Rosaura Conti ◽  
Chiara Zanchi ◽  
Egidio Barbi
Keyword(s):  
Connective Tissue ◽  
Muscular Atrophy ◽  
Neuromuscular Disorders ◽  
Joint Hypermobility ◽  
Mechanical Instability ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Lower Lip ◽  
Floppy Infant ◽  
Danlos Syndrome

Abstract Background Ehlers-Danlos syndrome (EDS) represents a group of connective tissue disorders characterized by the fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and internal organ involvement. The clinical spectrum is highly variable in terms of clinical features, complications, severity, biochemical characteristics and genes mutations. The kyphoscoliotic type EDS (EDS VIA) is a rare variant of the disease, with an incidence of 1:100.000 live births. EDS VIA presents at birth as severe muscular hypotonia, early onset of progressive kyphoscoliosis, marked hyperelasticity and fragility of the skin with abnormal scarring, severe joint hypermobility, luxations and osteopenia without a tendency to fractures. This condition is due to a mutation in the PLOD1 gene, and less commonly in FKBP14 gene, which results in the erroneous development of collagen molecules with consequent mechanical instability of the affected tissue. Case presentation A female newborn, found to be floppy at birth, presented a remarkable physical examination for joint hypermobility, muscle weakness, hyperelastic skin, a slight curve of the spine, the absence of the inferior labial and lingual frenulum. Due to severe hypotonia, neuromuscular disorders such as Spinal Muscular Atrophy (SMA), genetic diseases such as Prader Willi syndrome (PWS), myopathies and connective tissue disorders were considered in the differential diagnosis. Targeted gene sequencing were performed for SMN1, PLOD1, FKBP14, COL6A1, COL6A2, COL6A3. The urinary lysyl and hydroxy-lysyl pyridinoline ratio was diagnostic before discovering the homozygous duplication in the PLOD1 gene, which confirmed kyphoscoliotic EDS diagnosis. Conclusion In front of a floppy infant, a large variety of disorders should be considered, including some connective diseases. The presence at the birth of kyphoscoliosis, associated with joint hypermobility and the absence of the lingual and lower lip frenulum, should suggest an EDS.

scholarly journals Classification, nosology and diagnostics of Ehlers-Danlos syndrome

2019 ◽  
Vol 5 (2) ◽  
pp. 34-46
Author(s):  
Ben C J Hamel
Keyword(s):  
New York ◽  
Connective Tissue ◽  
Joint Hypermobility ◽  
Multidisciplinary Teams ◽  
Connective Tissue Disorders ◽  
Joint Hypermobility Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Skin Fragility ◽  
Danlos Syndrome ◽  
Heritable Connective Tissue Disorders

Ehlers-Danlos syndrome (EDS) comprises a group of heritable connective tissue disorders which has as cardinal features varying degrees of skin hyperextensibility, joint hypermobility, easy bruising and skin fragility. The 2017 New York nosology distinguishes 13 types of EDS, which all, except hypermobile EDS, have a known molecular basis. Hypermobile EDS is recognized as a common and often disabling disorder, incorporating benign joint hypermobility syndrome. EDS needs to be differentiated from other connective tissue disorders, in particular Marfan syndrome, Loeys-Dietz syndrome and cutis laxa. The frequent types of EDS can be diagnosed after careful history taking and clinical examination, but for definite diagnosis molecular confirmation is needed in all types. Management for EDS patients preferably is provided by multidisciplinary teams in expertise centres. After diagnosing EDS genetic counselling is an essential part of the management of patients and their family.

Case 64: Ehlers-Danlos Syndrome and Small Fiber Neuropathy

2019 ◽  
pp. 336-339
Author(s):  
Peter Novak
Keyword(s):  
Connective Tissue ◽  
Autonomic Failure ◽  
Joint Hypermobility ◽  
Anxiety Symptoms ◽  
Small Fiber Neuropathy ◽  
Tilt Test ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Small Fiber ◽  
Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. This patient had severe small fiber neuropathy, likely contributing to her pain complaints. Tilt test was negative, except for anxiety symptoms. There was no evidence of autonomic failure.

scholarly journals Hereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive Synthesis

2011 ◽  
Vol 2011 ◽  
pp. 1-18 ◽  
Author(s):  
Olivier M. Vanakker ◽  
Dimitri Hemelsoet ◽  
Anne De Paepe
Keyword(s):  
Connective Tissue ◽  
Metabolic Disorders ◽  
Type Iv Collagen ◽  
Connective Tissue Diseases ◽  
Haemorrhagic Stroke ◽  
Monogenic Disease ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome

Though the genetic background of ischaemic and haemorrhagic stroke is often polygenetic or multifactorial, it can in some cases result from a monogenic disease, particularly in young adults. Besides arteriopathies and metabolic disorders, several connective tissue diseases can present with stroke. While some of these diseases have been recognized for decades as causes of stroke, such as the vascular Ehlers-Danlos syndrome, others only recently came to attention as being involved in stroke pathogenesis, such as those related to Type IV collagen. This paper discusses each of these connective tissue disorders and their relation with stroke briefly, emphasizing the main clinical features which can lead to their diagnosis.

scholarly journals Respiratory Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review

2021 ◽  
Vol 7 (2) ◽  
pp. 1-7
Author(s):  
Christina Parducci ◽  
Keyword(s):  
Systematic Review ◽  
Connective Tissue ◽  
Connective Tissue Disorders ◽  
Respiratory Complications ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

The Ehlers-Danlos Syndromes (EDS) are genetic connective tissue disorders that are currently categorized into 14 subtypes. Symptoms of each subtype overlap, with some distinct manifestations

scholarly journals Considerations for lactation with Ehlers-Danlos syndrome: a narrative review

2022 ◽  
Vol 17 (1) ◽  
Author(s):  
Jimi Francis ◽  
Darby D. Dickton
Keyword(s):  
Connective Tissue ◽  
Human Milk ◽  
Joint Hypermobility ◽  
Narrative Review ◽  
Diagnostic Methods ◽  
Care Providers ◽  
Ehlers Danlos Syndrome ◽  
Lack Of Information ◽  
Skin Fragility ◽  
Danlos Syndrome

Abstract Background Ehlers-Danlos syndrome (EDS) is a rare genetic connective tissue condition that is poorly understood in relation to lactation. As diagnostic methods improve, prevalence has increased. EDS, a disorder that impacts connective tissue, is characterized by skin extensibility, joint hypermobility, and fragile tissue which can affect every organ and body system leading to complications during pregnancy, delivery, and the postpartum period. Traits of this disease can cause mild to severe physiologic and functional obstacles during lactation. Unfortunately, there is little clinical evidence and minimal guidance for lactation management, and providers may feel uncomfortable and hesitant to address these concerns with patients due to a lack of readily available resources on the subject and inexperience with such patients. This narrative review describes and discusses the types of EDS, identifying symptoms, considerations, and precautions for care providers to implement during lactation and breastfeeding. Methods An electronic search of relevant citations was conducted using the databases Cochrane, PubMed, and Google Scholar from 1 January 2000 to 1 November 2021. Search terms used were Ehlers-Danlos syndrome, Hypermobility Syndrome, breastfeeding, lactation, breastmilk expression, breastmilk collection, human milk expression, human milk collection, and infant feeding. The search of these databases yielded zero results. As no research articles on EDS were directly related to lactation, this narrative review includes articles found that related to the health of mothers relevant to maternal function during lactation. Discussion For the healthcare provider, identifying characteristics of EDS can improve the management of lactation challenges. Mothers may experience generalized symptoms from gastrointestinal distress to fatigue or chronic pain, while they also may suffer from more specific joint complaints and injuries, such as dislocations / subluxations, or skin fragility. Such obstacles can generate impediments to breastfeeding and create unique challenges for breastfeeding mothers with EDS. Unfortunately, new mothers with these symptoms may have them overlooked or not addressed, impacting a mother’s ability to meet her breastfeeding intentions. While there are some published research manuscripts on EDS and pregnancy, there is a lack of information regarding breastfeeding and lactation. Additional research is needed to help guide EDS mothers to achieve their breastfeeding intentions.

Sign in / Sign up

Export Citation Format

Share Document