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Article ; Online: Deconstructing and reconstructing joint hypermobility on an evo-devo perspective.

Castori, Marco

2021 Volume 60, Issue 6, Page(s) 2537–2544

Abstract: Joint hypermobility is a common characteristic in humans. Its non-casual association with various musculoskeletal complaints is known and currently defined "the spectrum". It includes hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum ... ...

Abstract	Joint hypermobility is a common characteristic in humans. Its non-casual association with various musculoskeletal complaints is known and currently defined "the spectrum". It includes hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD). hEDS is recognized by a set of descriptive criteria, while HSD is the background diagnosis for individuals not fulfilling these criteria. Little is known about the aetiopathogenesis of the spectrum. It may be interpreted as a complex trait according to the integration model. Particularly, the spectrum is common in the general population, affects morphology, presents extreme clinical variability and is characterized by marked sex bias without a clear Mendelian or hormonal explanation. Joint hypermobility and the other hEDS systemic criteria are intended as qualitative derivatives of continuous traits of normal morphological variability. The need for a minimum set of criteria for hEDS diagnosis implies a tendency to co-vary of these underlying continuous traits. In evolutionary biology, such a co-variation (i.e. integration) is driven by multiple forces, including genetic, developmental, functional and environmental/acquired interactors. The aetiopathogenesis of the spectrum may be resolved by a deeper understanding of phenotypic variability, which superimposes on normal morphological variability.
MeSH term(s)	Body Size/genetics ; Ehlers-Danlos Syndrome/diagnosis ; Ehlers-Danlos Syndrome/etiology ; Ehlers-Danlos Syndrome/genetics ; Ehlers-Danlos Syndrome/pathology ; Gene-Environment Interaction ; Genetic Variation ; Humans ; Joint Instability/diagnosis ; Joint Instability/etiology ; Joint Instability/genetics ; Joint Instability/pathology ; Phenotype ; Range of Motion, Articular/physiology ; Sex Characteristics ; Sex Factors ; Somatotypes/genetics ; Syndrome
Language	English
Publishing date	2021-03-02
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1464822-2
ISSN	1462-0332 ; 1462-0324
ISSN (online)	1462-0332
ISSN	1462-0324
DOI	10.1093/rheumatology/keab196
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Article ; Online: Joint hypermobility in children: a neglected sign needing more attention.

Castori, Marco

Minerva pediatrica

2020 Volume 72, Issue 2, Page(s) 123–133

Abstract: Joint hypermobility refers to the ability that a joint has to move beyond its normal range of motion. It is common in the general population, particularly in children. While many individuals manifesting joint hypermobility are healthy, this feature can ... ...

Abstract	Joint hypermobility refers to the ability that a joint has to move beyond its normal range of motion. It is common in the general population, particularly in children. While many individuals manifesting joint hypermobility are healthy, this feature can accompany a wide range of symptoms and systemic disorders, whose management can be influenced by their prompt recognition. Given the increasing attention that joint hypermobility is attracting in various fields of medicine, many practitioners are asked to approach more carefully joint hypermobility, in order to avoid over- and under-diagnosis of related disorders. Among the most common conditions featuring joint hypermobility there are hypermobility spectrum disorders and hereditary connective tissue disorders, in particular, the Ehlers-Danlos syndromes. In children, joint hypermobility also accompany a variety of disorders affecting neurodevelopment. The nature of such an association is protean, as joint hypermobility may occur in selected congenital neuromuscular disorders, monogenic multiple malformation/intellectual disability syndromes, and well-known and emerging genomic syndromes. In addition, joint hypermobility seems strongly associated with developmental coordination disorders. This review offers an overview on definitions, assessment procedures, patterns of associated manifestations and disorders related to joint hypermobility, as well as treatment principles of associated musculoskeletal pain for practitioners that are not familial with this issue but encounter people featuring this physical attribute in their daily activity.
MeSH term(s)	Child ; Connective Tissue Diseases/complications ; Connective Tissue Diseases/genetics ; Ehlers-Danlos Syndrome/complications ; Ehlers-Danlos Syndrome/genetics ; Humans ; Joint Instability/classification ; Joint Instability/diagnosis ; Joint Instability/etiology ; Joint Instability/therapy ; Range of Motion, Articular ; Syndrome
Language	English
Publishing date	2020-04-09
Publishing country	Italy
Document type	Journal Article ; Review
ZDB-ID	123571-0
ISSN	1827-1715 ; 0026-4946
ISSN (online)	1827-1715
ISSN	0026-4946
DOI	10.23736/S0026-4946.20.05766-7
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Article ; Online: Placing joint hypermobility in context: traits, disorders and syndromes.

Morlino, Silvia / Castori, Marco

British medical bulletin

2023 Volume 147, Issue 1, Page(s) 90–107

Abstract: Background: Joint hypermobility (JHM) is a common physical trait. It may occur alone or in combination with musculoskeletal (MSK) pain, outside or within more complex phenotypes. Hypermobility spectrum disorders (HSD) are diagnosed in individuals with ... ...

Abstract	Background: Joint hypermobility (JHM) is a common physical trait. It may occur alone or in combination with musculoskeletal (MSK) pain, outside or within more complex phenotypes. Hypermobility spectrum disorders (HSD) are diagnosed in individuals with JHM and related MSK pain, when an alternative diagnosis cannot be identified. Conversely, the Ehlers-Danlos syndrome (EDS) encompasses a group of rare hereditary connective tissue disorders featuring JHM along with other pleiotropic manifestations. The 2017 EDS Classification identifies 13 different subtypes. Hypermobile EDS (HEDS) is the only EDS variant still lacking a confirmatory test. Sources of data: Literature was reviewed searching for the most relevant papers related to key arguments. Particular attention was focused on papers published after the 2017 Classification. Areas of agreement: Definition, epidemiology, assessment tools and patterns of JHM are presented. The morbid nature of the 2017 EDS Classification and of the 'spectrum' is also illustrated. Areas of controversy: We discuss current limitations and disagreements concerning the 'spectrum', HSD and HEDS. Growing points: In the clinical context, elucidation of the pathophysiology of pain related to JHM should develop in parallel with the analysis of pleiotropic manifestations of syndromes with JHM. Areas timely for developing research: Future challenges concerning classification, nosology, diagnosis and management of JHM, EDS and related disorders are discussed.
MeSH term(s)	Humans ; Syndrome ; Joint Instability/complications ; Joint Instability/diagnosis ; Ehlers-Danlos Syndrome/complications ; Ehlers-Danlos Syndrome/diagnosis ; Ehlers-Danlos Syndrome/genetics ; Pain ; Phenotype
Language	English
Publishing date	2023-07-21
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	213294-1
ISSN	1471-8391 ; 0007-1420
ISSN (online)	1471-8391
ISSN	0007-1420
DOI	10.1093/bmb/ldad013
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Article ; Online: Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?

Castori, Marco

American journal of medical genetics. Part A

2016 Volume 170, Issue 7, Page(s) 1947

Language	English
Publishing date	2016-05-05
Publishing country	United States
Document type	Journal Article ; Published Erratum
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.37733
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Article ; Online: Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?

Castori, Marco

American journal of medical genetics. Part C, Seminars in medical genetics

2015 Volume 169, Issue 4, Page(s) 289–292

Abstract: Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues. It is usually ascertained due to abnormal skin texture, scarring complications, vascular ... ...

Abstract	Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues. It is usually ascertained due to abnormal skin texture, scarring complications, vascular fragility, or chronic symptoms, such as fatigue and musculoskeletal pain. Sometimes, Ehlers-Danlos syndrome remains undetected until the patient, usually in the pediatric age, shows extensive or severe mucocutaneous injuries after only minor traumas. In this scenario, the misdiagnosis of Ehlers-Danlos syndrome with child abuse is a possibility, as occasionally reported in the literature. Recently, more attention was posed by lay people between the possible association of Ehlers-Danlos syndrome and bone fragility. Literature and personal experience show a strong association between Ehlers-Danlos syndrome, generalized joint hypermobility and reduced bone mass density in older children and adults, especially fertile women. The existence of a true increased risk of fracture in Ehlers-Danlos syndrome is still a matter of debate in children and adults with little and conflicting evidence. In case of suspected child abuse, Ehlers-Danlos syndrome is certainly on the differential for bruising, especially in EDS types with marked cutaneous and capillary involvement. In suspected child abuse cases, careful examination of the index case and her/his extended family is routine, as well as exclusion of other disorders such as osteogenesis imperfecta. The hypothesis of Ehlers-Danlos syndrome as an alternative explanation for infantile fractures remains speculative.
MeSH term(s)	Adult ; Child ; Child Abuse ; Collagen Type I/genetics ; Contusions/etiology ; Diagnosis, Differential ; Ehlers-Danlos Syndrome/diagnosis ; Fractures, Bone/etiology ; Humans ; Joint Instability/etiology ; Male ; Skin Abnormalities/etiology
Chemical Substances	COL1A2 protein, human ; Collagen Type I ; collagen type I, alpha 1 chain
Language	English
Publishing date	2015-12
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.31460
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Article: Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders.

Micale, Lucia / Fusco, Carmela / Castori, Marco

Advances in experimental medicine and biology

2021 Volume 1348, Page(s) 207–233

Abstract: Ehlers-Danlos syndrome is an umbrella term for a clinically and genetically heterogeneous group of hereditary soft connective tissue disorders mainly featuring abnormal cutaneous texture (doughy/velvety, soft, thin, and/or variably hyperextensible skin), ...

Abstract	Ehlers-Danlos syndrome is an umbrella term for a clinically and genetically heterogeneous group of hereditary soft connective tissue disorders mainly featuring abnormal cutaneous texture (doughy/velvety, soft, thin, and/or variably hyperextensible skin), easy bruising, and joint hypermobility. Currently, musculoskeletal manifestations related to joint hypermobility are perceived as the most prevalent determinants of the quality of life of affected individuals. The 2017 International Classification of Ehlers-Danlos syndromes and related disorders identifies 13 clinical types due to deleterious variants in 19 different genes. Recent publications point out the possibility of a wider spectrum of conditions that may be considered members of the Ehlers-Danlos syndrome community. Most Ehlers-Danlos syndromes are due to inherited abnormalities affecting the biogenesis of fibrillar collagens and other components of the extracellular matrix. The introduction of next-generation sequencing technologies in the diagnostic setting fastened patients' classification and improved our knowledge on the phenotypic variability of many Ehlers-Danlos syndromes. This is impacting significantly patients' management and family counseling. At the same time, most individuals presenting with joint hypermobility and associated musculoskeletal manifestations still remain without a firm diagnosis, due to a too vague clinical presentation and/or the lack of an identifiable molecular biomarker. These individuals are currently defined with the term "hypermobility spectrum disorders". Hence, in parallel with a continuous update of the International Classification of Ehlers-Danlos syndromes, the scientific community is investing efforts in offering a more efficient framework for classifying and, hopefully, managing individuals with joint hypermobility.
MeSH term(s)	Databases, Genetic ; Ehlers-Danlos Syndrome/diagnosis ; Ehlers-Danlos Syndrome/epidemiology ; Ehlers-Danlos Syndrome/genetics ; Extracellular Matrix ; Humans ; Joint Instability/diagnosis ; Joint Instability/epidemiology ; Joint Instability/genetics ; Quality of Life
Language	English
Publishing date	2021-11-22
Publishing country	United States
Document type	Journal Article
ISSN	2214-8019 ; 0065-2598
ISSN (online)	2214-8019
ISSN	0065-2598
DOI	10.1007/978-3-030-80614-9_9
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Article ; Online: Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations.

Castori, Marco

ISRN dermatology

2012 Volume 2012, Page(s) 751768

Abstract: Ehlers-Danlos syndrome, hypermobility type, constituting a phenotypic continuum with or, perhaps, corresponding to the joint hypermobility syndrome (JHS/EDS-HT), is likely the most common, though the least recognized, heritable connective tissue disorder. ...

Abstract	Ehlers-Danlos syndrome, hypermobility type, constituting a phenotypic continuum with or, perhaps, corresponding to the joint hypermobility syndrome (JHS/EDS-HT), is likely the most common, though the least recognized, heritable connective tissue disorder. Known for decades as a hereditary condition with predominant rheumatologic manifestations, it is now emerging as a multisystemic disorder with widespread manifestations. Nevertheless, the practitioners' awareness of this condition is generally poor and most patients await years or, perhaps, decades before reaching the correct diagnosis. Among the various sites of disease manifestations, skin and mucosae represent a neglected organ where the dermatologist can easily spot diagnostic clues, which consistently integrate joint hypermobility and other orthopedic/neurologic manifestations at physical examination. In this paper, actual knowledge on JHS/EDS-HT is summarized in various sections. Particular attention has been posed on overlooked manifestations, including cutaneous, mucosal, and oropharyngeal features, and early diagnosis techniques, as a major point of interest for the practicing dermatologist. Actual research progresses on JH/EDS-HT envisage an unexpected link between heritable dysfunctions of the connective tissue and a wide range of functional somatic syndromes, most of them commonly diagnosed in the office of various specialists, comprising dermatologists.
Language	English
Publishing date	2012-11-22
Publishing country	Egypt
Document type	Journal Article
ZDB-ID	2612990-5
ISSN	2090-4606 ; 2090-4592
ISSN (online)	2090-4606
ISSN	2090-4592
DOI	10.5402/2012/751768
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Article ; Online: Surgical recommendations in Ehlers-Danlos syndrome(s) need patient classification: the example of Ehlers-Danlos syndrome hypermobility type (a.k.a. joint hypermobility syndrome).

Castori, Marco

Digestive surgery

2012 Volume 29, Issue 6, Page(s) 453–455

MeSH term(s)	Ehlers-Danlos Syndrome/complications ; Ehlers-Danlos Syndrome/therapy ; Humans ; Intestinal Perforation/etiology ; Intestinal Perforation/therapy ; Sigmoid Diseases/etiology ; Sigmoid Diseases/therapy
Language	English
Publishing date	2012
Publishing country	Switzerland
Document type	Comment ; Letter
ZDB-ID	605888-7
ISSN	1421-9883 ; 0253-4886
ISSN (online)	1421-9883
ISSN	0253-4886
DOI	10.1159/000346068
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Article ; Online: Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders.

Baban, Anwar / Castori, Marco

Expert review of clinical pharmacology

2018 Volume 11, Issue 7, Page(s) 689–703

Abstract: Introduction: Joint hypermobility (JH) is the hallmark of many hereditary soft connective tissue disorders, including Ehlers-Danlos syndromes and related disorders, disorders of the TGFβ-pathway, lateral meningocele syndrome, arterial tortuosity ... ...

Abstract	Introduction: Joint hypermobility (JH) is the hallmark of many hereditary soft connective tissue disorders, including Ehlers-Danlos syndromes and related disorders, disorders of the TGFβ-pathway, lateral meningocele syndrome, arterial tortuosity syndrome, and cutis laxa syndromes. Contemporary practice separates individuals with isolated, non-syndromic JH from patients with Mendelian syndromes and those with hypermobility spectrum disorders. The latter is a new nosologic entity grouping together individuals with JH and related musculoskeletal manifestations, but lacking inclusion criteria for well-defined and/or single-gene disorders. Area covered: Nomenclature of JH and JH-related disorders are summarized on a practically oriented perspective. Critical areas of clinical management comprise pain; cardiovascular and respiratory issues; fatigue and dysautonomia; bone fragility; and capillary, skin and soft tissue fragility. Medical management stands on low-evidence data. Ongoing preclinical and clinical studies are aimed to reach a more personalized pharmacological approach to the management of the cardiovascular risk, musculoskeletal pain, and reduced bone mass. Expert commentary: Correct classification of patients with JH-related disorders needs a systematic approach, in which a wide array of molecular tests should be intermingled with strong clinical competences in highly specialized settings. A multispecialty, hierarchical approach should be encouraged for optimal coordination of care in systemic phenotypes.
MeSH term(s)	Animals ; Cooperative Behavior ; Diagnosis, Differential ; Humans ; Joint Instability/diagnosis ; Joint Instability/drug therapy ; Joint Instability/physiopathology ; Pain/etiology ; Pain Management/methods ; Precision Medicine/methods
Language	English
Publishing date	2018-07
Publishing country	England
Document type	Journal Article ; Review
ISSN	1751-2441
ISSN (online)	1751-2441
DOI	10.1080/17512433.2018.1497973
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Article ; Online: Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass.

Guarnieri, Vito / Castori, Marco

Current osteoporosis reports

2018 Volume 16, Issue 4, Page(s) 333–343

Abstract: Purpose of review: To summarize current evidence on the links between joint hypermobility (JH) and Ehlers-Danlos syndromes (EDS), with pain and reduced bone mass; to illustrate an updated approach to JH and EDS.: Recent findings: In 2017, a novel ... ...

Abstract	Purpose of review: To summarize current evidence on the links between joint hypermobility (JH) and Ehlers-Danlos syndromes (EDS), with pain and reduced bone mass; to illustrate an updated approach to JH and EDS. Recent findings: In 2017, a novel classification for EDS and JH has been published. Increasing data demonstrate that pain is a major disability determinator in JH and EDS. Recent findings confirm a complex pathogenesis for pain in JH and EDS and suggest a potential role for joint instability, central sensitization and small fiber neuropathy. Some papers present bone mass reduction as an associated feature of JH and EDS. The association is preliminary and reflects heterogeneous mechanisms. Assessment of patients with JH/EDS is now well-structured and based on an integrated approach of clinical evaluations and molecular testing. Pain and reduced bone mass are possibly common satellite manifestations of JH/EDS and need expert consult for appropriate interpretation and management.
MeSH term(s)	Bone Density ; Central Nervous System Sensitization/physiology ; Ehlers-Danlos Syndrome/complications ; Ehlers-Danlos Syndrome/physiopathology ; Humans ; Joint Instability/complications ; Joint Instability/physiopathology ; Musculoskeletal Pain/etiology ; Musculoskeletal Pain/physiopathology ; Small Fiber Neuropathy/physiopathology
Language	English
Publishing date	2018-04-13
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2186581-4
ISSN	1544-2241 ; 1544-1873
ISSN (online)	1544-2241
ISSN	1544-1873
DOI	10.1007/s11914-018-0460-x
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