Since then, some studies showed no significant increase in the incidence of MVP in EDS compared to the general population [1820], whereas others disclosed a higher MVP frequency (2867%) [120, 121, 122]. While we did not observe any striking difference concerning skin hyperextensibility as well as the other minor criteria, in most patients, especially in adolescence, scars changed over time both in dimension and appearance. 2,3 Molluscoid pseudotumors are a characteristic . J Biol Chem. Fragility, bruising and sagging of the skin are severe but, surprisingly, the skin heals well. In our previously published smaller cEDS cohort [7], a lower incidence of gJHM was observed in adults compared to younger individuals, suggesting that age affects JHM also in cEDS, as more widely demonstrated in hEDS and in which an age-dependent BS was introduced in the revised diagnostic criteria [1, 50, 69, 7173]. Fig.4e).4e). By considering the index-cases, the sex ratio was 1.75 (28 females and 16 males). Am J Pathol. The most recurrent (50%) were minor asymmetry at lower limbs or at other body areas (83.6%), mild scoliosis (74.3%), lumbar hyperlordosis/hypolordosis (57.9%), cubita/genua valga or halluces valgi (53.3%), and high arched/narrow palate (50%); all these features did not show any apparent sex and age bias. The most common problematic was headache/migraine, which was reported by 41.3% of patients without significant sex- and age-related differences, even if it affected more frequently adult females. Gene Set: HP_MOLLUSCOID_PSEUDOTUMORS. Wenstrup RJ, Florer JB, Davidson JM, Phillips CL, Pfeiffer BJ, Menezes DW, et al. Ehlers Danlos syndrome and osteoporosis. Though the limited time period of observation (range 27years), gJHM displayed an age influence. In this spirit, The Ehlers-Danlos Society includes patients, caregivers, health care professionals and supporters working "towards a time when a medical professional immediately recognizes someone with Abraham Lincoln is the most famous American who had Marfan syndrome. Ehlers-Danlos syndrome tends to result in chronic pain and discomfort, often in the joints, muscles, or nerves. Ritelli M, Cinquina V, Venturini M, Pezzaioli L, Formenti AM, Chiarelli N, et al. Clayton EW. (Fig.2).2). In conclusion, we explored the accuracy of the 2017 nosology for the cEDS diagnosis in a cohort of patients from different ages and sexes with a defined molecular defect and tried to offer a full picture of the multisystemic involvement and some views on the natural history of this condition. Promptly recognizing among the different EDS subtypes and confirmatory genetic testing is indeed increasingly important as these disorders are characterized by different natural histories and prognoses. People with EDS can have trouble using pens and pencils, because holding tightly to something so thin becomes painful. In addition to this latter sign, the presence of gJHM and its complications and further minor signs prompted molecular analysis that revealed a pathogenic COL5A1 variant. In more recent times, Olympic swimmer Michael Phelps, basketball prospect Isaiah Austin and, perhaps, al-Qaeda leader Osama bin Laden had Marfan syndrome. The frequencies of disabling dysmenorrhea (~23%) and meno/metrorrhagias (~16%) observed in our cohort are basically in line with these previous observations, but the high incidence of these issues also in the general population does not allow to draw relevant conclusions. All data generated or analyzed during this study are included in this published article and its Additional files. Chronic neuropathic pain was present only in the most severely affected patient (Patient 14). No clear-cut genotype-phenotype correlations have emerged so far, except that COL5A2 variants seem to result in a more severe phenotype, although numbers are still limited. Ehlers-Danlos syndrome (EDS) is a disease that weakens the connective tissues of your body. The discreetly high incidence of chronic fatigue observed in our cEDS cohort is in line with previous observations that emphasized that in EDS this issue is more common than in the general population and likely contributes to the patients functional impairment, psychological distress, and decreased QoL [8689]. The skin is often soft and may be mildly hyperextensible. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. Among the 5 investigated muscular signs (Additional Table 1 and Fig. Molluscoid pseudotumors: Synonym: Molluscoid pseudotumor: Definition: Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees. The lifespan of people with the kyphoscoliosis form is also decreased, largely due to the vascular involvement and the potential for restrictive lung disease. Frequent headaches. Varicose veins (~20%) and Raynauds phenomenon/acrocyanosis/livedo reticularis (~11%) were relatively unusual. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. The most common allergens were various foods, pollen, animal dander (especially cat hair), and dust mites. Eccles JA, Owens AP, Mathias CJ, Umeda S, Critchley HD. 2015;16. Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype. hormonal and vitamin D deficiencies, lifestyle, and medications) were investigated. 2016;35:10414. Indeed, in our cohort, apart from myalgias and cramps that affected about 50% of adults, primary (causing delayed motor development and clumsiness in few cases) or acquired muscle hypotonia/weakness (always of mild degree), and involuntary muscle contractions were quite rare; fibromyalgia was only a sporadic observation. This is a question our experts keep getting from time to time. Rare autosomal recessive cardiac Valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Second, to asses texture/consistence, the skin was touched at different sites including arms, thorax, hands and legs. In almost all patients of our cohort we systematically evaluated 15 orthopedic features (Fig. Atzinger CL, Meyer RA, Khoury PR, Gao Z, Tinkle BT. Vitamin D deficiency was found in 4 patients and cholecalciferol treatment was commenced. 1 The basic clinical hallmarks of EDS are joint hypermobility, skin hyperextensibility, and tissue fragility. Hagberg C, Korpe L, Andersson-Norinder J, Berglund B. Ehlers-danlos syndrome (EDS) focusing on oral symptoms: a questionnaire study. Can I Get Disability For Ehlers-Danlos Syndrome (EDS)? Ritelli M, Cinquina V, Giacopuzzi E, Venturini M, Chiarelli N, Colombi M. Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes. Molluscoid pseudotumors are small, spongy outgrowths observed over scars and pressure points. EhlersDanlos syndrome (EDS) is a clinically and genetically heterogenous group of connective tissue disorders characterized by abnormal fibrillar collagen synthesis or abnormalities in proteins that interact with collagen. People affected by vascular EDS have a median life expectancy of 48 years and many will have a major event by age 40. 2015;9:4. Lena Dunham Dress With Stripes. Several case-control studies in the past suggested that EDS is associated with pelvic floor disorders [111113], but most of these studies have not controlled for childbirth history or age and included patients affected by various types of EDS. They can be observed in the arms and over the tibia. It is usually diagnosed before the age of 2 years. In addition to the nosological criteria, the clinical picture of cEDS variably involves multiple organ systems, but observational data in large cohorts of molecularly proven cEDS patients are still limited. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Our experts have done a research to get accurate and detailed answers for you. Various types of Ehlers-Danlos syndromes can affect the teeth, gums and other oral structures. Addressing the confounding role of joint hypermobility syndrome and gastrointestinal involvement in postural orthostatic tachycardia syndrome. Aydeniz A, Dikensoy E, Cebesoy B, Altmda , Grsoy S, Balat . Twenty out of 31 women had at least one pregnancy and 8 of them had multiple pregnancies. When both parents carry one copy of the mutated TNXB gene, their child has a 25% chance of inheriting classical-like EDS. Molluscoid pseudotumors are small, spongy tumors found over scars and pressure points. Doctors may use a series of tests to diagnose EDS (except for hEDS), or rule out other similar conditions. Pelvic floor disorders including urinary stress incontinence, pelvic organ prolapse, and other sensory and emptying abnormalities were very uncommon among our affected females. 8600 Rockville Pike Ritelli M, Morlino S, Giacopuzzi E, Bernardini L, Torres B, Santoro G, et al. They are commonly seen in patients with type I. Dietz H, et al. Third, to assess hyperextensibility, the skin was stretched in specific points comprising upper eyelids, neck, dorsum of hand and forearm, chest, abdomen, elbows, and knees. Analysis was carried out with the GraphPad Software and considering significant p-values when less than 0.05. So did Julius Caesar and Tutankhamen. The relation between genitourinary prolapse and joint hypermobility in Turkish women. Sia is an Australian artist who has become popular all over the world. While fatigue affects about 1/3 of the general population [80], the chronic fatigue syndrome, defined as fatigue lasting longer than 6months, occurs only in ~1% of the general population [81, 82] and is usually associated with impaired memory, cognitive deficits, muscle and joint pain, headaches, non-restorative sleep, post-exertional illness as well as psychological issues [8385]. clEDS type 1 and 2, kyphoscoliotic, spondylodysplastic, myopathic, and musculocontractural EDS) [9] also regarding muscular and neuropsychiatric involvement. ), whereas small, isolated, single, or post-surgical scars were not considered representative of cEDS. EDS can make your joints loose and your skin thin and easily bruised. Steiner RD, Basel D, et al. Colombi M, Dordoni C, Cinquina V, Venturini M, Ritelli M. A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing. Van Damme T, Colige A, Syx D, Giunta C, Lindert U, Rohrbach M, et al. Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. 4a). So, feel free to use this information and benefit from expert answers to the questions you are interested in! Our findings emphasize a milder phenotype and disease course in cEDS compared to hEDS [50, 69] and other EDS subtypes (e.g. Ehlers Danlos syndrome: an unusual presentation you need to know about. Similarly, non-progressive aortic root dilatation was infrequent (~9%) as well as aortic ectasia (only 2 adult males) and tricuspid valve prolapse and bicuspid aortic valves were sporadic findings, thus suggesting that regular routine echocardiograms to assess for valvular diseases and aortic root dilatation may not be strictly necessary unless warranted by presence of symptoms or family history. [HPO:probinson], Sweet's syndrome is a well-known entity in the field of dermatology. Common iliac artery aneurysm and spontaneous dissection with contralateral iatrogenic common iliac artery dissection in classic ehlers-danlos syndrome. Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study. Frequencies of selected clinical features are reported in Table Table1,1, in Figs. Back pain (56.8% vs 12.9%), disk hernias/protrusions (27.9% vs 3.4%), and spondylolisthesis (2.5% vs 0%) were all more common in adults. Mobile patellae were present in 6/75 patients (8%). Some of these issues, which may worsen the pain experience as well as other organ system manifestations (gastrointestinal and autonomic), were encountered also in our cohort with anxiety, panic, and/or fears that were referred by ~15% of patients. Molluscoid pseudotumors and spheroids. Due to the collagen in the skin being extra stretchy, many EDS patients experience a lack of wrinkles as they age. (Fig.3b3b and Additional Tables1 and 2). Nelson AD, Mouchli MA, Valentin N, Deyle D, Pichurin P, Acosta A, et al. Learn more When possible, the presence of arterial aneurysms, progressive aortic root dilatation, aortic ectasia, valvular regurgitation with hemodynamic involvement, and mitral valve prolapse (MVP) was investigated by cerebral, thoracic, abdominal magnetic resonance imaging (MRI) and/or heart ultrasound. Department of Dermatology, St Luke's University Health System, Temple School of Medicine, Bethlehem, PA, USA. Likewise, chronic disabling pain was infrequent and patients, mainly adults, used principally nonsteroidal anti-inflammatory drugs or paracetamol on demand, whereas opioid therapy was very uncommon (Additional Table2). Dalgleish R. The human collagen mutation database 1998. Genes (Basel). Among the 49 earlier published patients that were included in the present study, 24 were reassessed at least once during scheduled follow-up visits (Additional Table 1). Molluscoid pseudotumors consist of fat surrounded by a fibrous capsule. These are things like tendons and ligaments that hold parts of your body together. Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients. Premature rupture of membranes with preterm delivery was present in 1 patient with an affected fetus; 16 women had uncomplicated pregnancies and delivery (Additional Table 1). Germain DP, Herrera-Guzman Y. Vascular Ehlers-Danlos syndrome. Ehlers-Danlos syndromes primarily affects the skin, hair, and skeletal system. Assessment between the presence/absence of investigated features and selected dichotomous variables, i.e., age at last examination < or18years and gender, was performed with the chi-square test with Yatess correction or Fishers exact test whenever the count was insufficient. Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome. Epidemiology and pathophysiology of mitral valve prolapse: New insights into disease progression, genetics, and molecular basis. This collagen may help EDS patients look younger and can also cause skin to feel extremely soft. This is your one-stop encyclopedia that has numerous frequently asked questions answered. Musculoskeletal involvement was an interesting finding in our cohort, due to the high prevalence of some related issues, thus suggesting that the registration of these features might strengthen the suspect of cEDS, although with a low specificity. Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome. Fossey M, Libman E, Bailes S, Baltzan M, Schondorf R, Amsel R, et al. The skin is often soft and may be mildly hyperextensible. Molluscoid pseudotumors consist of fat surrounded by a fibrous capsule. While her voice and music are well-known to many music fans, her face is not. Additional investigated facial features comprised micro/retrognathia, low-set ears, anteverted nostrils, elongated philtrum, and hypoplastic auricular lobe. Supplementary information accompanies this paper at 10.1186/s13023-020-01470-0. The most uncertain patient was a sporadic female (Patient 23 in Additional Table 1) who presented only a single, small atrophic scar and localized skin hyperextensibility at elbows and knees. In our cEDS cohort, easy bruising, which is present to a variable degree in all EDS subtypes, was the most common finding (~87%). Rowe PC, Barron DF, Calkins H, Maumenee IH, Tong PY, Geraghty MT. High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome. Motor clumsiness was reported by 36.5% of patients as well as chronic fatigue (36%), the latter was more frequent in adults (45.5% vs 22.6%), although not statistically significant. A healing scar in a 6-year-old girl (a); a papyraceous, non-hemosiderotic scar in a 22-year-old female (b); a cigarette paper scar in a 39-year-old female (c); multiple papyraceous, hemosiderotic scars in a 40-year-old female (d); multiple papyraceous scars in a 57-year-old male (e); combination of multiple, papyraceous, hemosiderotic scars, and cigarette paper scars in a 34-year-old female (f). It can also cause stomach problems and headaches. Hypermobility of the temporomandibular (jaw) joint can result in dislocations, facial and head pain. Front Neurosci. Constipation with or without other features of voiding dysfunction was often the initial sign of gastrointestinal involvement, but problems such as hemorrhoids, rectal bleeding, and anal fissures were uncommon and more serious complications such as rectal prolapse or fecal impaction did not occur. Obstetric and gynecologic challenges in women with ehlers-danlos syndrome. M35064. These muscular complications, except primary hypotonia, are instead very frequent in hEDS and they intensely contribute to the poor QoL in adulthood [50, 69], when patients usually show generalization and progressive chronicity of musculoskeletal pain, which is often diagnosed as fibromyalgia [79], summation of other forms of chronic pain, such as pelvic pain (in women) and migraine as well as exacerbation of fatigue, together with additional complaints including paresthesia, mixed functional gastrointestinal disorders, and orthostatic intolerance [71]. pretibial region), due to skin fragility joined with a defective wound healing. In this spirit, The Ehlers-Danlos Society includes patients, caregivers, health care professionals and supporters working "towards a time when a medical professional immediately recognizes someone with Abraham Lincoln is the most famous American who had Marfan syndrome. 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Series of tests to diagnose EDS ( except for hEDS ), gJHM displayed molluscoid pseudotumors!
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