Congenital absence of lingual frenum in a non-syndromic patient: a case report by Raneem Felemban, Hani Mawardi

“…Historically, the absence of lingual frenum was linked to multiple genetic and developmental conditions such as infantile hypertrophic pyloric stenosis, non-syndromic ankyloglossia diseases, and Ehlers–Danlos syndromes and was never reported in otherwise healthy individuals. …”
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Molecular determinants of arterial stiffness by Stéphane Laurent, Céline Fassot, Patrick Lacolley, Pierre Boutouyrie

“…In monogenic diseases of connective tissue (Marfan, Williams, and Ehlers–Danlos syndromes) and corresponding animal models, the precise characterization of arterial phenotype allows understanding the influence of abnormal, genetically determined, wall components on arterial stiffness. …”
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The differential diagnosis of children with joint hypermobility: a review of the literature by Elliott Elizabeth J, Tofts Louise J, Munns Craig, Pacey Verity, Sillence David O

“…</p> <p>Results</p> <p>3330 papers were identified: 1534 pertained to instability of a particular joint; 1666 related to the diagnosis of Ehlers Danlos syndromes and 330 related to joint hypermobility.…”
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Primary Hemostasis Disorders as a Cause of Heavy Menstrual Bleeding in Women of Reproductive Age by Athanasios Kontogiannis, Alkis Matsas, Serena Valsami, Maria Effrosyni Livanou, Theodoros Panoskaltsis, Panagiotis Christopoulos

“…They comprise a heterogeneous group of diseases with Von Willebrand disease (VWD) being the most commonly diagnosed; other disorders in this group that have been linked to HMB include (a) Glanzmann thrombasthenia, (b) Bernard–Soulier syndrome, (c) Hermansky–Pudlak syndrome, (d) immune thrombocytopenia (ITP), and (e) Ehlers–Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD). …”
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THE DIFFERENTIAL DIAGNOSIS OF CHILDREN WITH JOINT HYPERMOBILITY: A REVIEW OF THE LITERATURE by Louise J. Tofts, J. Elliott, Craig Munns, Verity Pacey, David O Sillence

“…Results. 3330 papers were identified: 1534 pertained to instability of a particular joint; 1666 related to the diagnosis of Ehlers Danlos syndromes and 330 related to joint hypermobility. …”
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Anterior Capsule Reconstruction of the Native Hip: A Technique Guide by Adrian Z. Kurz, M.D., F.R.C.S.(C.), Muzammil Memon, M.D., Dale Williams, M.D., F.R.C.S.(C.), Olufemi R. Ayeni, M.D., Ph.D., F.R.C.S.(C.)

“…This is a technique guide for open anterior capsule reconstruction in unstable native hips due to Ehlers–Danlos syndrome. Ehlers–Danlos syndrome is a connective tissue disease that predisposes an individual to hypermobility of their soft tissues and recurrent subluxations and dislocations of their joints. …”
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Think ‘Zebra’ by Evergreen, Shel

“…Thousands of rare diseases affect 300 million people globally, but a potential breakthrough in one sheds light on the systemic barriers to research and diagnosis. Ehlers-Danlos Syndrome (EDS) has thirteen subtypes, and, to date, all but one have at least one identified genetic marker. …”
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Dermatologic Emergencies CME Part V: Abuse-Related skin manifestations, dermatologic surgical emergency and other rare miscellaneous emergencies by Mohammed Shanshal

“… The last part of this continual medical education series reviews the cutaneous manifestations of physical and sexual abuse and their differential diagnosis, dermatologic surgical emergencies and miscellaneous dermatologic emergencies such as acute graft-versus-host disease, hypereosinophilic syndromes and vascular Ehlers-Danlos syndrome…”
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Aortic Root Dilatation in Children and Adolescents At Al-Hawary General Hospital, & National Benghazi Cardiac Center -Libya by Rasmia H. Feituri, Hanan El Megasbi, Mariam M. El maadani, Amal Khazm

“…Conclusions: Dilated aortic root is a common finding in Marfan syndrome, bicuspid aortic root, and Ehlers-Danlos syndrome, and its progress could be decreased by using beta-adrenergic blockers in rapidly progressing dilation. …”
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Dysmetabolic nephropathy in children with hereditary connective tissue dysplasia by E. A. Yurieva, V. V. Dlin, E. S. Vozdvizhenskaya, V. S. Sukhorukov, A. N. Semyachkina, M. N. Kharabadze

“…We examined 36 children with Ehlers–Danlos syndrome and 10 children with Marfan syndrome to reveal signs of metabolic disorders in the blood and urine.Results. …”
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Ruptura vesical em criança com fenótipo de Ehlers-Danlos. by M Félix, M F Lopes, R Maia, L Diogo

“…We report a case of "spontaneous" bladder rupture in a child with type IV Ehlers-Danlos Syndrome phenotype. The clinical presentation was unusual with abdominal pain, urinary retention and recurrent rectal prolapse. …”
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A 27-Year-Old Woman With Postpartum Papillary Muscle Rupture by Erika Hutt, MD, Celeste Santos-Martins, MD, Jose Aguilera, MD, Per Wierup, MD, PhD, Vidyasagar Kalahasti, MD, Carmela Tan, MD

“…This case demonstrates the challenges of postpartum PMR in a young woman with unrecognized vascular Ehlers-Danlos syndrome and highlights the importance of preconception screening of cardiovascular disease. …”
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Síndroma de Ehlers-Danlos â Uma causa rara de pneumotórax espontâneo by Carlos Lopes, Alda Manique, Renato Sotto-Mayor, Jorge Cruz, Margarida Mendes de Almeida, João Cravino, A Bugalho de Almeida

“…There are hypermobile joints with increased extensibility.We summarize the case of a sixteen year old boy with a history of joint hypermobility since childhood and splenic fracture that was diagnosed with Ehlers-Danlos syndrome after the occurrence of recidivant spontaneous pneumothorax.We present the most common pulmonary complications of Ehlers-Danlos syndrome and discuss the importance of not forgetting the least commons etiologies of pneumothorax, in cases of spontaneous pneumothorax.Rev Port Pneumol 2006; XII (4): 471-480 Palavras-chave: Síndroma de Ehlers-Danlos, pneumotórax, hipermobilidade articular, Key-words: Ehlers-Danlos Syndrome, pneumothorax, joint hypermobility…”
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Multiple arterial anomalies in the newborn infant. Echocardiographic and angiographic diagnosis by Ivan Romero Rivera, Lourdes Gomes, Valdir Ambrósio Moisés, Celia Camelo Silva, José Lázaro Andrade, Antonio Carlos Carvalho

“…Multiple arterial anomalies characterized by tortuosity and rolling of the pulmonary arteries and aorta were diagnosed on echocardiography in an asymptomatic newborn infant with a phenotype suggesting Ehlers-Danlos syndrome. These changes were later confirmed on angiography, which also showed peripheral vascular abnormalities. …”
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Mast Cell Involvement in the Pathogenesis of Selected Musculoskeletal Diseases by Łukasz Gutowski, Szymon Kanikowski, Dorota Formanowicz

“…For instance, exploring the bidirectional action of MCs in rheumatoid arthritis, understanding the extent of MCs’ impact on symptoms associated with Ehlers–Danlos syndrome, and unraveling the exact role of the myofibroblast–mast cell–neuropeptides axis in the joint capsule during post-traumatic contractures are all captivating areas for exploration. …”
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Pediatric Bentall procedure for giant ascending aortic aneurysm in Loeys–Dietz syndrome by Hüseyin Sicim, Ali Ertan Ulucan, Okan Yurdakök, Numan Ali Aydemir

“…Ascending aortic aneurysm is very rare in children, and is usually seen in patients with underlying connective tissue disorders such as Marfans and Ehler–Danlos syndrome. Loeys–Dietz syndrome (LDS) is less commonly seen as a cause of ascending aortic aneurysms in children. …”
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Angioid streaks. A case report by Aimé Broche Hernández, Mayra Rodríguez Casales, Iusimí Guillén Brizuela

“…There are a number of diseases associated with the development of angioid streaks such as the pseudoxanthoma elasticum, Paget's disease, senile elastosis and hyperplastic fibrous dysplasia or Ehlers-Danlos syndrome. A case of a patient with pseudoxanthoma elasticum who suffers from sudden loss of bilateral visual acuity after a facial trauma is presented.…”
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Angioid streaks. A case report by Aimé Broche Hernández, Mayra Rodríguez Casales, Iusimí Guillén Brizuela

“…There are a number of diseases associated with the development of angioid streaks such as the pseudoxanthoma elasticum, Paget's disease, senile elastosis and hyperplastic fibrous dysplasia or Ehlers-Danlos syndrome. A case of a patient with pseudoxanthoma elasticum who suffers from sudden loss of bilateral visual acuity after a facial trauma is presented.…”
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Vascular pathology in hereditary connective tissue disorders by M. A. Perekalskaya, I. I. Volkova, Yu. O. Ostanina, E. B. Luksha

“…Some syndromes are well-known and extensively described (such as Marfan syndrome and Ehlers-Danlos syndrome), while the others have been described only recently and are less known. …”
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The Internet Knows More Than My Physician: Qualitative Interview Study of People With Rare Diseases and How They Use Online Support Groups by Sadaf Ashtari, Adam Daniel Taylor

“…Eligible participants were those who were aged >18 years, had a medical diagnosis of any type of Ehlers-Danlos syndrome (EDS) with chronic pain, and were members of any support group. …”
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