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Small atrophic, non-papyraceous scars. A small scar (A) showing dermal atrophy at observer's gentle compression between fingers (B). Two similar scars in a boy (C) and adult female (D).
Source publication
Cutaneous manifestations are a diagnostic criterion of Ehlers-Danlos syndrome, hypermobility type (EDS-HT) and joint hypermobility syndrome (JHS). These two conditions, originally considered different disorders, are now accepted as clinically indistinguishable and often segregate as a single-familial trait. EDS-HT and JHS are still exclusion diagno...
Context in source publication
Context 1
... Soft/ velvety/doughy skin was an entirely subjective feeling developed during clinical practice. Atrophic non-papyra- ceous scars were considered those with a resulting atrophic texture but with a minor extend, so that atrophy can be best appreciated by a gentle stretching of the patient's skin between the observer's index finger and thumb (Fig. 2). Pres- ence of true papyraceous scars lead to the exclusion from the study according to Villefranche nosology [Beighton et al., 1998]. The term "widened post-surgical scars" referred to mildly defective scar formation after surgery (usually, orthopedic interventions) (Fig. 3). Acquired cutis laxa/premature skin aging was considered ...
Citations
... Sin embargo, dentro de los signos y síntomas habituales encontramos la hiperlaxitud articular, hiperelasticidad de la piel e hiperequimosis de los vasos sanguíneos. 2,3 El siguiente trabajo tiene como objetivo realizar una revisión actualizada de la literatura respecto al manejo quirúrgico de los pacientes con SED sometidos a cirugía bucal. Para tal fin, se utilizaron resultados extraídos manualmente de artículos indexados a las bases de datos de PUBMED y EBSCO, que respondían a la búsqueda de los términos Ehlers-Danlos syndrome, dental management y oral surgery. ...
... 28 Anestesia: Algunos reportes indican que los pacientes con SED tienen una respuesta reducida a anestésicos locales, por lo que utiliza el término "resistencia anestésica". 3 En una encuesta, los pacientes refieren un menor efecto anestésico cuando se compara con controles. Un 80% refirió insuficiencia del efecto anestésico, lo que se traduce en dolor intra y post operatorio. ...
El síndrome de Ehlers-Danlos es una enfermedad hereditaria, producida por mutaciones cromosómicas que pueden llegar a tener un comportamiento autosómico dominante, recesivo o ligado al cromosoma X. Se caracteriza por defectos en las enzimas encargadas de la estructura y síntesis de colágeno. En vista de los 20 tipos de colágeno que existen, este síndrome es extremadamente heterogéneo tanto en su presentación clínica como en su progresión y evolución. Dentro de los signos y síntomas habituales encontramos la hiperlaxitud articular, hiperelasticidad de la piel e hiperequimosis de los vasos sanguíneos. Con relación a las complicaciones que pueden presentar estos pacientes, encontramos dislocaciones articulares, fragilidad en la piel, dolor articular, ruptura de grandes vasos sanguíneos, dificultad en la cicatrización y, en consecuencia, mayor incidencia de procesos infecciosos y de cicatrices poco estéticas.
Presenta una incidencia de 1 caso cada 2.500-5.000 nacidos vivos. Por ello, es fundamental que el odontólogo se encuentre familiarizado con el manejo médico-dental de estos pacientes, a fin de estar preparado para brindarles un tratamiento adecuado y responder ante las posibles complicaciones que se pueden presentar.
En esta revisión se emplearon resultados extraídos manualmente de artículos, indexados en las bases de datos PUBMED y EBSCO, que respondían a la búsqueda de los términos Ehlers-Danlos syndrome, dental management y oral surgery.
El objetivo fue describir el manejo médico-odontológico del paciente con síndrome de Ehlers-Danlos hasta la fecha.
... Baeza-Velasco et al., 2021;Bénistan & Martinez, 2019;Castori et al., 2015;Coussens et al., 2021;Hugon-Rodin et al., 2016;Kalisch et al., 2019;Puledda et al., 2015;Scheper et al., 2016). Four studies used only postal or internet surveys(De Wandele et al., 2014;Glayzer et al., ...
... (Alomari et al., 2020;De Wandele et al., 2014;Murray et al., 2013;Puledda et al., 2015); gastrointestinal symptoms including gut dysmotility, abdominal pain, gastroesophageal reflux disease, diarrhea, nausea, and constipation(Alomari et al., 2020;Bénistan & Martinez, 2019;De Wandele et al., 2014;Murray et al., 2013;Puledda et al., 2015;Scheper et al., 2016); skin and mucocutaneous symptoms(Bénistan & Martinez, 2019;Castori et al., 2015;Murray et al., 2013;Scheper et al., 2016); genitourinary difficulties(Alomari et al., 2020;Bénistan & Martinez, 2019;Glayzer et al., 2021;Hugon-Rodin et al., 2016;Murray et al., 2013;Puledda et al., 2015); sleep disturbances(Schubart et al., 2019(Schubart et al., , 2022; and neurological and psychological problems, including headaches(Bénistan & Martinez, 2019;Hugon-Rodin et al., 2016;Murray et al., 2013;Puledda et al., 2015), depression and anxiety(Bénistan & Martinez, 2019;De Wandele et al., 2014;Murray et al., 2013;Puledda et al., 2015), and suicidal ideation(Baeza-Velasco et al., 2021;Bénistan & Martinez, 2019). ...
Background:
Research on hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder (hEDS/HSD) has described its natural history and clinical course in children, adolescents, and young to middle-aged adults. However, more research is needed on the clinical trajectory of hEDS/HSD into older age. Therefore, clinicians, including nurse practitioners, know little about identifying older adults with undiagnosed hEDS/HSD.
Objective:
This review sought to identify studies regarding aging in hEDS/HSD.
Data sources:
This scoping review included PubMed, Cumulative Index to Nursing and Allied Health Literature, and Scopus and found 15 studies that mentioned age or aging on the symptoms and health-related quality of life.
Conclusions:
No study had a stated aim regarding aging in hEDS/HSD, but all studies corroborated earlier natural history studies describing the age-related trajectory of manifestations in younger people. Studies found that symptom progression was heterogeneous, multisystemic, and unpredictable. Studies also noted prolonged diagnosis delays and long symptom duration, but the impact of these factors on outcomes was unclear. The high variability in patient outcomes precludes the prediction of outcomes based on the included studies. The clinical impact of aging on hEDS/HSD remains mostly speculative.
Implications for practice:
Nurse practitioners, especially those in primary care, should consider that older adults presenting with multimorbidity may have undiagnosed hEDS/HSD. More research is needed to identify symptom patterns and clinical history that may suggest an underlying connective tissue disorder.
... 4,8,20,21 Other manifestations include, but are not limited to, fragile skin, easy bruising, abnormal wound healing, sleep disturbances, psychologic disorders, anxiety, depression, chronic fatigue syndrome, Raynaud's phenomenon, recurrent hernias, and neurodivergence (eg, attention deficit hyperactivity disorder, autism spectrum disorder, social anxiety, dyslexia, and dyspraxia, among other conditions). 4,18,[22][23][24][25][26][27][28][29][30][31][32] ...
... Additional features such as easy bruising, haematomas, blue sclerae and delayed wound healing were also noted in a cross-sectional review of joint hypermobility syndrome/hEDS. 26 The differential diagnosis of hEDS includes clEDS and Cardiac-valvular EDS (cvEDS). ...
The Ehlers Danlos syndromes (EDS) comprise a group of inherited connective tissue disorders presenting with features of skin hyperextensibility, joint hypermobility, abnormal scarring and fragility of skin, blood vessels and some organs. The disease is generally diagnosed through the cluster of clinical features, though the addition of genetc analysis is the gold standard for diagnosis of most subtypes. All subtypes display skin manifestations, which are essential to the accurate clinical diagnosis of the condition. Furthermore, cutaneous features can be the first and/or only presenting feature in some cases of EDS and thus understanding these signs is vital for diagnosis. This review focuses on particular cutaneous features of each EDS subtype and their clinical importance. Provision of a specific diagnosis is important for management, prognosis and genetic counselling, often for family members beyond the individual.
... We also have to consider that some of our patients may have hypermobile-type EDS, and genetic background of this type is not determined. Hypermobile patients with a phenotype similar to classical EDS were described by Castori et al. [18]. Authors presented hEDS patients with mucocutaneous abnormality similar to the skin abnormalities described in cEDS classification (atrophic scars, hyperextensible, soft, and velvety skin). ...
Background:
Ehlers-Danlos syndrome (EDS) is a common non-inflammatory, congenital connective tissue disorder. Classical type (cEDS) EDS is one of the more common forms, typically caused by mutations in the COL5A1 and COL5A2 genes, though causative mutations in the COL1A1 gene have also been described.
Material and methods:
The study group included 59 patients of Polish origin, diagnosed with cEDS. The analysis was performed on genomic DNA (gDNA) with NGS technology, using an Illumina sequencer. Thirty-five genes related to connective tissue were investigated. The pathogenicity of the detected variants was assessed by VarSome.
Results:
The NGS of 35 genes revealed variants within the COL5A1, COL5A2, COL1A1, and COL1A2 genes for 30 of the 59 patients investigated. Our panel detected no sequence variations for the remaining 29 patients.
Discussion:
Next-generation sequencing, with an appropriate multigene panel, showed great potential to assist in the diagnosis of EDS and other connective tissue disorders. Our data also show that not all causative genes giving rise to cEDS have been elucidated yet.
... In a study of 200 individuals over 70 years of age, no one was found to have a BS higher than 2 [10]. The loss of hypermobility with age has also been specifically demonstrated within the hypermobile population, with the delineation of three distinct phases [75][76][77]. The first decade of life, i.e. the "hypermobility" phase, presents with marked hypermobility, with joint sprains and strains occurring in around 40% of patients. ...
The Beighton Score (BS) is a set of manoeuvres in a nine-point scoring system, used as the standard method of assessment for Generalised Joint Hypermobility (GJH). It was originally developed as an epidemiological tool used in screening large populations for GJH, but later adopted as a clinical tool for diagnostic purposes. Its ability to truly reflect GJH remains controversial, as joints within the scoring system are predominantly of the upper limb and disregard many of the major joints, preventing a direct identification of GJH. Furthermore, a consistent finding in the literature whereby the BS failed to identify hypermobility in joints outside the scoring system suggests its use as an indirect indicator of GJH is also not viable. As such, the collective findings of this review demonstrate a need for a change in clinical thinking. The BS should not be used as the principle tool to differentiate between localised and generalised hypermobility, nor used alone to exclude the presence of GJH. Greater emphasis should be placed on a clinician’s judgement to identify or exclude GJH, according to its full definition.
... This leads to complaints of chronic pain, chronic fatigue and autonomic dysfunction, which significantly affect the patients' quality of life. [15][16][17] Dermal involvement in hEDS is attenuated compared to other subtypes, 9,18 but a pronounced involvement of gastrointestinal disturbance is observed. 15 Furthermore, psychological distress such as anxiety and depression are found in high prevalence in hEDS patients. ...
The Ehlers–Danlos syndromes (EDS) are a collection of rare hereditary connective tissue disorders with heterogeneous phenotypes, usually diagnosed following clinical examination and confirmatory genetic testing. Diagnosis of the commonest subtype, hypermobile Ehlers–Danlos Syndrome (hEDS), relies solely on a clinical diagnosis since its molecular aetiology remains unknown. We performed an up‐to‐date literature search and selected 11 out of 304 publications according to a set of established criteria. Studies reporting variants affecting collagen proteins were found to be hindered by cohort misclassification and subsequent lack of reproducibility of these genetic findings. The role of the described variants affecting Tenascin‐X and LZTS1 is yet to be demonstrated in the majority of hEDS cases, while the functional implication of associated signaling pathways and genes requires further elucidation. The available literature on the genetics of hEDS is scant, dispersed and conflicting due to out‐dated nosology terminology. Recent literature has suggested the role of several promising candidate mechanisms which may be linked to the underlying molecular aetiology. Knowledge of the molecular genetic basis of hEDS is expected to increase in the near future through the mainstream use of high‐throughput sequencing combined with the updated classification of EDS, and the upcoming Hypermobile Ehlers–Danlos Genetic Evaluation (HEDGE) study.
... Hypermobility was associated with severe hypotonia, cutis laxa, progeroid aspect and venous network. (7) He showed also stereotypic dyskinetic movements and psychomotor delay with cognitive impairment and absent language. (8) The sitting position was maintained with the need for orthoses to support the trunk control, but the standing position was not acquired. ...
De Barsy syndrome is an autosomal recessive condition characterized by an progeroid appearance with distinctive facial features and cutis laxa. Ophthalmological, orthopedic, and neurological anomalies are generally also present. This syndrome is rare and the complex therapeutic management, from a surgical but also rehabilitative point of view, has not been recognized. The aim of this paper is to describe a possible rehabilitative protocol, after an orthopedic surgical treatment, in a child with De Barsy Syndrome. A 6-year-old boy was born with a congenital bilateral hip dysplasia associated with bilateral congenital foot deformity (vertical talus). Moreover, he showed stereotypic dyskinetic movements and psychomotor delay with cognitive impairment and absent language; the sitting position was maintained with orthoses to support the trunk control and the standing position was not acquired. He was treated with pinstripe knee-highs for the foot and double nappy for the hips. At 19 months old, he underwent a two stage surgical approach for a bilateral pronated valgus foot with severe talonavicular subluxation. Satisfactory hip range of motion was achieved by conservative treatment alone. Afterwards, for the foot laxity and the flat-pronated foot corrective shoes were prescribed. The main rehabilitative goals were: attention improvement, visual exploration for foot-eye and hand-eye coordination, encourage the essential prerequisites of language, controlling the upright position using support, improving hip-knee-foot relationship, improving load transfer between the right and left sides of the body, and bimanual coordination. The rehabilitation process lasted six months, three times a week, for a time from 30 minutes to 60 minutes per session. The results were encouraging and the patient acquired the possibility of sitting with the indicated postural system, the possibility of assuming an upright position and taking a few steps with the aid of rollator with a postural stabilization system for the pelvis.
... Se diagnostica a partir de criterios Brighton y Villefranche. 38,39 Se divide en seis tipos; sin embargo, los más comunes son hipermovilidad benigna y la clásica. 22 La identificación de JHS en estos pacientes a través de la evaluación clínica simple puede ayudar a caracterizar a estos pacientes y proporcionar un diagnóstico unificador para todos sus múltiples síntomas, evitando así numerosas derivaciones innecesarias a varios especialistas. ...
Joint hypermobility syndrome is an inherited disorder with autosomal dominant pattern; is characterized by joint hyperlaxity and musculoskeletal pains. Thermal hypermobility refers to the increase in active or passive movements of joints based on their normal ranges. Joint hypermobility syndrome also has gastrointestinal symptoms, sleep disorders, fibromyalgia, psychological disorders, migraine headache, ophthalmic, autonomic, among others. To diagnose hypermobility syndrome, Brighton’s criteria are generally accepted and published in 1998. This criteria also known as benign joint hypermobility syndrome. The term benign is used to distinguish it from other more severe conditions such as Ehler-Danlos (classic or vascular type), Marfan syndrome, and imperfect osteogenesis. Treatment with physiotherapy and pharmacological means help improve patients’ quality of life.
... Indeed, recognition of cEDS is generally not challenging, since most patients present with the typical cutaneous hallmarks and gJHM (BS ≥5/9). However, vast intra-and interfamilial variability tells a much wider clinical presentation [4][5][6] and an important overlap with other EDS subtypes and HCTDs [1,9,16,[28][29][30]. Nowadays, molecular analysis, especially for doubtful patients, should rely on next generation sequencing (NGS) technologies, including multigene panels containing at least all EDSassociated genes and/or panels comprising genes of the major HCTDs in differential diagnosis and/or a custom phenotype-focused whole exome analysis [1]. ...
... These suggestions are supported first by the fact that in our sample abnormal scarring was undoubtedly the most common sign. Although scarring was variable in clinical appearance and affected sites and is shared by other EDS subtypes and HCTDs [1,9,[28][29][30][32][33][34][35], scars should basically be considered representative of cEDS. Indeed, in our cohort, scars were typically numerous, large, papyraceous, and hemosiderotic. ...
... Indeed, considering the clinical overlap not only between the different EDS subtypes but also with other HCTDs [1,9,28,30,32,[35][36][37][38][39][40][41][42][43][44][45][46][47][48][49], differential diagnosis is not always forthright. Differential diagnosis includes the molecularly unsolved hEDS that shares with cEDS gJHM and more than a few (muco) cutaneous signs; however, hEDS patients usually show a lower degree of scarring and skin hyperextensibility and much more striking gJHM complications [1,7,28,29,50]. Molluscoid pseudotumors and subcutaneous spheroids are highly diagnostic of cEDS, even if they were rarely observed in our patients' cohort. Signs of premature skin aging, including acquired cutis laxa of the extremities and skin wrinkling, although less specific, might also help in the differential with hEDS, especially in adults. ...
Background:
The Ehlers-Danlos syndromes (EDS) are rare connective tissue disorders consisting of 13 subtypes with overlapping features including joint hypermobility, skin and generalized connective tissue fragility. Classical EDS (cEDS) is principally caused by heterozygous COL5A1 or COL5A2 variants and rarely by the COL1A1 p.(Arg312Cys) substitution. Current major criteria are (1) skin hyperextensibility plus atrophic scars and (2) generalized joint hypermobility (gJHM). Minor criteria include additional mucocutaneous signs, epicanthal folds, gJHM complications, and an affected first-degree relative. Minimal criteria prompting molecular testing are major criterion 1 plus either major criterion 2 or 3 minor criteria. In addition to these features, the clinical picture also involves multiple organ systems, but large-scale cohort studies are still missing. This study aimed to investigate the multisystemic involvement and natural history of cEDS through a cross-sectional study on a cohort of 75 molecularly confirmed patients evaluated from 2010 to 2019 in a tertiary referral center. The diagnostic criteria, additional mucocutaneous, osteoarticular, musculoskeletal, cardiovascular, gastrointestinal, uro-gynecological, neuropsychiatric, and atopic issues, and facial/ocular features were ascertained, and feature rates compared by sex and age.
Results:
Our study confirms that cEDS is mainly characterized by cutaneous and articular involvement, though none of their hallmarks was represented in all cases and suggests a milder multisystemic involvement and a more favorable natural history compared to other EDS subtypes. Abnormal scarring was the most frequent and characteristic sign, skin hyperextensibility and gJHM were less common, all without any sex and age bias; joint instability complications were more recurrent in adults. Some orthopedic features showed a high prevalence, whereas the other issues related to the investigated organ systems were less recurrent with few exceptions and age-related differences.
Conclusions:
Our findings define the diagnostic relevance of cutaneous and articular features and additional clinical signs associated to cEDS. Furthermore, our data suggest an update of the current EDS nosology concerning scarring that should be considered separately from skin hyperextensibility and that the clinical diagnosis of cEDS may be enhanced by the accurate evaluation of orthopedic manifestations at all ages, faciocutaneous indicators in children, and some acquired traits related to joint instability complications, premature skin aging, and patterning of abnormal scarring in older individuals.
