scholarly journals Transvestism Recognized in Ehlers-Danlos Syndrome: Report of Two Cases

2019 ◽  
Vol 2019 ◽  
pp. 1-6
Author(s):  
Hiroki Ishiguro ◽  
Naomi Honobe ◽  
Takefumi Suzuki ◽  
Mariko Tamai ◽  
Takaya Nakane
Keyword(s):  
Mood Disorders ◽  
Large Scale ◽  
Connective Tissue Diseases ◽  
Japanese Patients ◽  
Childhood And Adolescence ◽  
Psychological Pain ◽  
Ehlers Danlos Syndrome ◽  
Psychological Burden ◽  
First Case ◽  
Danlos Syndrome

Ehlers-Danlos syndrome (EDS) comprises a series of rare hereditary connective tissue diseases characterized by musculoskeletal, skin, and cardiovascular involvements. EDS may be associated with physical as well as psychological pain that can lead to psychiatric problems. EDS imposes substantial psychological burden on patients, and recent large-scale studies have suggested that patients with EDS have a higher risk of mood disorders than the general population. To the best of our knowledge, we describe, for the first time, the cases of two Japanese patients with EDS complicated with mood disorders who secondarily developed transvestism that was judged strongly related to early stressful situations through childhood and adolescence. The first case was of a man in his mid-30s and the second of a woman in her late 20s. We report on detailed psychosocial data to further discuss the medical management and genetic counseling of such infrequent but challenging conditions. Physicians are advised to be aware of various potential psychological and psychiatric issues that may accompany EDS.

scholarly journals Ehlers-Danlos Syndrome in the Field of Psychiatry: A Review

2022 ◽  
Vol 12 ◽  
Author(s):  
Hiroki Ishiguro ◽  
Hideaki Yagasaki ◽  
Yasue Horiuchi
Keyword(s):  
Large Scale ◽  
Case Reports ◽  
Subcutaneous Fat ◽  
Connective Tissue Diseases ◽  
Joint Hypermobility ◽  
Childhood And Adolescence ◽  
Ehlers Danlos Syndrome ◽  
Psychological Burden ◽  
Compulsive Disorder ◽  
Danlos Syndrome

Ehlers-Danlos syndrome (EDS) comprises a series of rare hereditary connective tissue diseases characterized by joint hypermobility, joint dislocation, and hyperextensibility of the skin, as well as cardiovascular involvement. EDS is often associated with chronic widespread physical pain, which can lead to psychological pain. Poor awareness and limited diagnosis of EDS and related symptoms result in decreased self-esteem and confusion regarding physical sensation. Furthermore, EDS imposes substantial psychological burden on patients due to exercise restriction, scars, keloids, and subcutaneous fat accumulation on the extremities, which leads to parental overprotection and bullying experiences from other children at school age. Recent large-scale studies have suggested that patients with EDS have a higher risk of mood disorders than the general population. Other cohort studies indicated high prevalence of anorexia nervosa, addiction, obsessive compulsive disorder, and anxiety disorder were found in patients with EDS. Case reports instead indicated that some psychiatric disorders were secondary symptoms due to physical problems from EDS. Therefore, psychiatrists must be more knowledgeable and proactive about EDS in their practice. We review the previous case reports and literature for patients with EDS, along with our own case of complicated psychiatric problems, which are strongly related to early stressful situations through childhood and adolescence. This is to aid general psychiatrists in the discussion of appropriate medical management in such infrequent, yet challenging conditions.

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 The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Xiaolin Ni ◽  
Chenxi Jin ◽  
Yan Jiang ◽  
Ou Wang ◽  
Mei Li ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Clinical Manifestations ◽  
Joint Hypermobility ◽  
Minor Trauma ◽  
X Rays ◽  
Ehlers Danlos Syndrome ◽  
Chinese Origin ◽  
First Case ◽  
Blue Sclerae ◽  
Danlos Syndrome

Abstract Background Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and severe skin hyperextensibility and fragility. Deficiency of lysyl hydroxylase 1 (LH1) due to mutations of PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1) gene has been identified as the pathogenic cause of kEDS (kEDS-PLOD1). Up to now, kEDS-PLOD1 has not been reported among Chinese population. Case presentation A 17-year-old Chinese male patient presenting with hypotonia, joint hypermobility and scoliosis was referred to our hospital. After birth, he was found to have severe hypotonia leading to delayed motor development. Subsequently, joint hypermobility, kyphoscoliosis and amblyopia were found. Inguinal hernia was found at age 5 years and closed by surgery. At the same time, he presented with hyperextensible and bruisable velvety skin with widened atrophic scarring after minor trauma. Dislocation of elbow joint was noted at age of 6 years. Orthopedic surgery for correction of kyphoscoliosis was performed at age 10 years. His family history was unremarkable. Physical examination revealed elevated blood pressure. Slight facial dysmorphologies including high palate, epicanthal folds, and down-slanting palpebral fissures were found. He also had blue sclerae with normal hearing. X-rays revealed severe degree of scoliosis and osteopenia. The Echocardiography findings were normal. Laboratory examination revealed a slightly elevated bone turnover. Based on the clinical manifestations presented by our patient, kEDS was suspected. Genetic analysis revealed a novel homozygous missense mutation of PLOD1 (c.1697 G > A, p.C566Y), confirming the diagnosis of kEDS-PLOD1. The patient was treated with alfacalcidol and nifedipine. Improved physical strength and normal blood pressure were reported after 12-month follow-up. Conclusions This is the first case of kEDS-PLOD1 of Chinese origin. We identified one novel mutation of PLOD1, extending the mutation spectrum of PLOD1. Diagnosis of kEDS-PLOD1 should be considered in patients with congenital hypotonia, progressive kyphoscoliosis, joint hypermobility, and skin hyperextensibility and confirmed by mutation analysis of PLOD1.

scholarly journals Neurovascular manifestations of connective-tissue diseases: A review

2016 ◽  
Vol 22 (6) ◽  
pp. 624-637 ◽  
Author(s):  
Sarasa T Kim ◽  
Waleed Brinjikji ◽  
Giuseppe Lanzino ◽  
David F Kallmes
Keyword(s):  
Connective Tissue ◽  
Treatment Options ◽  
Connective Tissue Diseases ◽  
Neurofibromatosis Type ◽  
Cerebrovascular Diseases ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome ◽  
Heritable Connective Tissue Disorders

Patients with connective tissue diseases are thought to be at a higher risk for a number of cerebrovascular diseases such as intracranial aneurysms, dissections, and acute ischemic strokes. In this report, we aim to understand the prevalence and occurrences of such neurovascular manifestations in four heritable connective tissue disorders: Marfan syndrome, Ehlers-Danlos syndrome, Neurofibromatosis Type 1, and Loeys-Dietz syndrome. We discuss the fact that although there are various case studies reporting neurovascular findings in these connective tissue diseases, there is a general lack of case-control and prospective studies investigating the true prevalence of these findings in these patient populations. Furthermore, the differences observed in the manifestations and histology of such disease pathologies encourages future multi-center registries and studies in better characterizing the pathophysiology, prevalence, and ideal treatment options of neurovascular lesions in patents with connective tissue diseases.

scholarly journals Prolapse and regurgitation of the four heart valves in a patient with Ehlers–Danlos Syndrome: a case report

2019 ◽  
Vol 3 (2) ◽  
Author(s):  
Diego Xavier Chango Azanza ◽  
Martin Alejandro Munín ◽  
Gustavo Anibal Sánchez ◽  
Fernando Spernanzoni
Keyword(s):  
Heart Valves ◽  
Systolic Function ◽  
Stress Test ◽  
Pulmonary Regurgitation ◽  
Connective Tissue Diseases ◽  
High Rate ◽  
Heart Team ◽  
Cardiac Valves ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Abstract Background The Ehlers–Danlos Syndrome (EDS) is part of a group of connective tissue diseases that affect the synthesis and processing of collagen leading to alterations in the structure of many tissues and organs. Case summary Herein, we reported a case of a patient with prolapse of the four cardiac valves. Non-significant regurgitation of the mitral, aortic, and tricuspid valves was observed. The pulmonary regurgitation (PR) was considered significant. Dilatation of the right ventricle with preserved systolic function was also noted. A cardiac magnetic resonance confirmed the findings of the echocardiogram and determined a severe PR (regurgitant fraction of 41%). The physical examination revealed hyperlaxity of the joints, skin hyperelasticity, defects in wound healing, and abdominal hernias suggesting EDS. The stress test did not develop any symptoms or complex arrhythmias. In this patient, the heart team initially decided medical treatment and evolutionary control. At the moment, he remains asymptomatic. Discussion Valvular involvement in EDS is an infrequent event and the compromise of the four cardiac valves is exceptional. The existence of severe PR with a marked increase in ventricular volumes, even in the absence of symptoms, in most cases requires an intervention on the valve. However, in patients with EDS, there are a high rate of complications and interventions should be avoided as much as possible.

Tactile Corpuscle-like Bodies in Rectal Mucosa - A Mysterious Misleading Lesion

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S84-S84
Author(s):  
S A Anderson ◽  
V Dal Zotto
Keyword(s):  
English Literature ◽  
S100 Protein ◽  
Rectal Mucosa ◽  
Rare Entity ◽  
Gastrointestinal Mucosa ◽  
Ehlers Danlos Syndrome ◽  
Spindle Cells ◽  
First Case ◽  
Rectal Polyps ◽  
Danlos Syndrome

Abstract Introduction/Objective Tactile corpuscle-like bodies (TCLB) are specialized mechanoreceptors derived from Schwannian structures, resembling Wagner-Meissner corpuscles which are often found in the skin and within schwannomas, neurofibromas, and melanocytic nevi. However, their presence in gastrointestinal mucosa is a rare phenomenon. To our knowledge, only 27 cases have been reported in the English literature. Methods We present two cases showing this rare entity in rectal mucosa. The first case is in a 34-year-old female was a past medical history significant for Ehlers-Danlos syndrome. The second case was submitted in consultation, of a 64-year-old male. In both cases, rectal polyps were identified on endoscopy. Results Histologically, clusters of unencapsulated, lamellated spindle cells in the lamina propria were identified. Immunoperoxidase stains using antibodies against CD68 and S100 protein were performed on both specimens. Additionally, on the first case synaptophysin was also performed. The laminated clusters were strongly positive for S100 and negative for CD68. The first case showed focally positive synatophysin. Although the etiology of TCLBs is still unclear, they are considered to be benign, incidental neural proliferations. The histological differential diagnosis includes: schwann cell hamartomas, neurofibromas, ganglioneuromas, mucosal neuromas, nodular amyloid deposition, or granulomas. However, those in question can be differentiated with the use of S100 protein and histiocytic markers. Conclusion Awareness of TCLBs is important. Although they are benign neural proliferations, it is important to differentiate from histologic mimics often associated with inherited syndromes.

THE BILATERAL ULNAR ARTERY INVOLVEMENT IN TYPE IV EHLERS-DANLOS SYNDROME — A CASE REPORT

Hand Surgery ◽  
2012 ◽  
Vol 17 (02) ◽  
pp. 213-216 ◽  
Author(s):  
Kazuo Ikeda ◽  
Naoki Osamura ◽  
Satomi Kasashima
Keyword(s):  
Case Report ◽  
Ulnar Artery ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
First Case ◽  
Vascular Type ◽  
The World ◽  
Forearm Compartment Syndrome ◽  
Danlos Syndrome ◽  
Hereditary Condition

Ehlers-Danlos syndrome Type IV, the vascular type, is a rare hereditary condition. Major arteries are often affected in this type. In this paper, we present the first case report in the world in which forearm compartment syndrome caused by the bilateral ulnar artery rupture in this type. Successful treatment such as incision of the forearm fascia and ligation of the ulnar artery was performed.

scholarly journals Gastric perforation leading to the diagnosis of classic Ehlers–Danlos syndrome: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Ahad E. Alotaibi ◽  
Ohood H. AlAamer ◽  
Mohammed A. Bawazeer ◽  
Ali A. Alzahrani
Keyword(s):  
Abdominal Pain ◽  
Connective Tissue ◽  
Bowel Perforation ◽  
Connective Tissue Diseases ◽  
Young Patients ◽  
Partial Gastrectomy ◽  
Contrast Extravasation ◽  
Ehlers Danlos Syndrome ◽  
Free Air ◽  
Danlos Syndrome

Abstract Background Ehlers–Danlos syndrome is a clinically and genetically heterogeneous group of heritable connective tissue disorders caused by a defect in collagen synthesis and structure. The vascular subtype (Ehlers–Danlos syndrome IV) is reported to be associated with a higher incidence of gastrointestinal perforations. The most reported site of perforation is the colon, followed by the small bowel. Perforation of the stomach is very rare, and there are no reported cases to date of classic types I and II. Case presentation We present the case of a 14-year-old Saudi girl who visited our emergency department with abdominal pain and vomiting. Initially, she was diagnosed with gastroenteritis and discharged once her condition stabilized. After 48 hours, she developed severe abdominal pain with recurrent vomiting and peritonitis evident on clinical examination. Initial abdominal x-ray failed to show any free air; however, enhanced computed tomography revealed free air and contrast extravasation in the proximal gut. During exploratory laparotomy, a large perforation was found on the anterior wall of the stomach due to the underlying ischemia. The posterior wall had ischemic mucosa with an intact healthy serosa. A free-hand partial gastrectomy was performed to resect all ischemic parts of the stomach. Detailed examinations and laboratory workup were carried out after the surgery to figure out the possible underlying cause. The clinical findings during the physical examination supported marfanoid features. Marfan’s syndrome and related disorders sequencing panel was requested, and Deoxyribonucleic acid (DNA) samples were sent. Given results were supporting the diagnosis of classical Ehlers–Danlos syndrome, the patient was labeled as a case of Ehlers–Danlos syndrome. During the postoperative period, she developed a wound infection that was managed successfully with vacuum-assisted closure dressing. She recovered well without gastrointestinal sequelae in the 4 years of follow-up. Conclusions Heritable systemic connective tissue diseases must be given serious consideration in young patients with unusual spontaneous perforation. Such patients might develop life-threatening conditions that require immediate intervention. Hence, correct and timely diagnosis is important to prepare for the anticipated complications.

First Case Report Associating Chronic Pancreatitis and Ehlers-Danlos Syndrome

Pancreas ◽  
2011 ◽  
Vol 40 (1) ◽  
pp. 157-159 ◽  
Author(s):  
Katrine B. Hansen ◽  
Steen Larsen ◽  
Filip K. Knop
Keyword(s):  
Case Report ◽  
Chronic Pancreatitis ◽  
Ehlers Danlos Syndrome ◽  
First Case ◽  
Danlos Syndrome

scholarly journals Obesity surgery and Ehlers–Danlos syndrome: challenges and considerations based on a case report

2020 ◽  
Vol 102 (1) ◽  
pp. e7-e11 ◽  
Author(s):  
IN Gerogiannis ◽  
ID Gkegkes ◽  
NJ Dempster ◽  
RS Gillies ◽  
B Sgromo
Keyword(s):  
Symptomatic Relief ◽  
Gastric Pouch ◽  
Barium Meal ◽  
Complete Relief ◽  
Ehlers Danlos Syndrome ◽  
Gastrointestinal Manifestations ◽  
First Case ◽  
Retrosternal Pain ◽  
Obstructive Sleep ◽  
Danlos Syndrome

Ehlers–Danlos syndrome is a hereditary connective tissue disorder that has gastrointestinal manifestations in over 50% of its cases. We present the first case of bariatric surgery in a patient with Ehlers–Danlos syndrome and outline management challenges in the context of the relevant literature. A 56-year-old man with type IV Ehlers–Danlos syndrome and a body mass index of 41.8 kg/m2 was referred to the bariatric centre of the Churchill Hospital, Oxford, for consideration of surgery for morbid obesity. His comorbidity included type 2 diabetes, hypertension, dyslipidaemia and obstructive sleep apnoea. He underwent a laparoscopic Roux-en-Y gastric bypass. His initial recovery was uneventful and he was discharged on the first postoperative day. Six weeks later, he presented with 43.9% excess weight loss and improved glycaemic control. Three months postoperatively, however, he complained of dysphagia, regurgitation and postprandial pain. A barium meal and gastroscopy suggested the presence of a gastric diverticulum. A surgical exploration was planned. Intraoperative gastroscopy demonstrated an asymmetrical gastric pouch dilatation and the pouch was therefore refashioned laparoscopically. Despite the initial symptomatic relief, two months later he experienced retrosternal pain with progressive dysphagia. Since then, multiple endoscopic dilatations of the gastro-oesophageal junction have been performed for recurrence of symptoms. Finally, a laparoscopic hiatus hernia repair and adhesiolysis was performed resulting in complete relief of patient’s symptoms. Bariatric management of patients with Ehlers–Danlos syndrome can prove challenging. The bariatric team must implement a careful management plan including a detailed consent process, a tailored surgical intervention and a follow-up focused on potential gastrointestinal manifestations.

Sign in / Sign up

Export Citation Format

Share Document