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Ehlers-Danlos syndromes (EDSs) are a group of heritable connective tissue disorders. Patients with EDSs can develop excessive facial rhytids, nasal deformities, and facial scarring, for which they may seek consultation with a facial plastic surgeon. Ehlers-Danlos syndromes can be associated with serious surgical complications and should be identified preoperatively to facilitate optimal treatment. To our knowledge, no management guidelines for patients with EDSs exist in the facial plastic surgery literature. We present a review of the literature and management recommendations for the facial plastic surgeon.We performed a PubMed/MEDLINE search for all publications in the English language related to surgical experience in patients with EDSs. A total of 37 publications (including reviews and case series) were included. Ehlers-Danlos syndromes are more common than appreciated, with an overall point prevalence between 1 in 2500 and 1 in 5000 according to existing literature. There are 6 main subtypes of EDSs that have significant phenotypic heterogeneity. Patients with classic type and hypermobile EDS (the 2 most common subtypes) can typically undergo elective facial plastic surgery without major complications. However, specific preoperative, intraoperative, and postoperative issues, as outlined in this review, must be taken into consideration. Vascular EDS should serve as a contraindication to elective surgery given its potential for life-threatening complications.Because of their skin laxity, patients with EDSs may present more frequently to facial plastic surgeons' offices. Simple screening questions can help the surgeon identify potential patients with EDSs. Treatment should be individualized and performed with extreme care to ensure optimal outcomes.

Zespół Marfana (ZM) oraz zespół Ehlersa-Danlosa (ZED) to przykłady dwóch rzadkich uwarunkowanych genetycznie chorób, charakteryzujących się zaburzeniami w budowie kolagenu. W pracy przedstawiono przypadek 15-letniego chłopca z klasycznymi objawami klinicznymi współistnienia ZM oraz ZED. Występujące objawy, a przede wszystkim nieprawidłowe nawyki ruchowe, mogły sugerować zapalną układową chorobę tkanki łącznej.

Since 1998, two developments have led to concerns that the EDS nosology needs to be substantially revised. The first development was the clinical and molecular characterization of several new EDS variants, which substantially broadened the molecular basis underlying EDS. The second was the growing concern, in the absence of genetic diagnosis, that the hypermobile type of EDS had an expanded phenotype, may be genetically heterogeneous, and that the diagnostic criteria currently in use were inadequate. Furthermore, there is a dire need for the development of guidelines for management for each type of EDS to allow both the specialist and the generalist to care for affected individuals and their families. We have been meeting together as an international consortium over the past 2 years to establish these new criteria and management and care guidelines © 2017 Wiley Periodicals, Inc.

Item does not contain fulltext The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen-modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS-variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes. Advances in molecular testing have made it possible to now identify the causative mutation for many patients presenting these phenotypes. The aim of this literature review is to summarize the current knowledge on the rare EDS subtypes and highlight areas for future research. (c) 2017 Wiley Periodicals, Inc. 01 maart 2017

Item does not contain fulltext The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between EDS subtypes, but also with other HCTDs, the definite diagnosis of all EDS subtypes, except for the hypermobile type, relies on molecular confirmation with identification of (a) causative genetic variant(s). We also revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes. (c) 2017 Wiley Periodicals, Inc. 01 maart 2017

Despite its high frequency, Ehlers-Danlos disease remains practically unknown to doctors who evoke many other diagnoses with dangerous therapeutic and social consequences. These diagnoses primarily include mental disorders that sometimes lead to hospitalizations in psychiatry. Progression of the disease’s clinical knowledge allows for a diagnosis of certainty, based solely on clinical examination, in the absence of biological marker in the hypermobile form, which is by far the most often encountered.

A 2-year-old male Persian cat was presented with repeated lacerated skin wounds. The skin was thin and hyperextensible. Wounds in different healing phases were observed in the neck, trunk, and the limbs. Histopathological examination of skin biopsies revealed a variable structure and size of the collagen bundles, electron microscopy revealed collagen fibrils with varying diameters and irregular, frayed outlines as well as collagen bundles with chaotic arrangement of aberrant collagen fibrils. The clinical signs and the histopathological and electron microscopical findings were consistent with the Ehlers-Danlos like syndrome.

In the past, due to the intrinsic osseous stability of the hip joint, the diagnosis of “hip instability” was rarely made outside of the dysplastic hip or pathologic hyperlaxity conditions. In the last decade, however, as the number of patients undergoing hip preserving surgery has risen, so have concerns regarding the potential for instability, particularly in highly active patients as well as those with genetic capsular laxity. Current research involving the soft tissues surrounding the hip, such as the capsular ligaments, acetabular labrum, ligamentum teres, and psoas tendon, has now demonstrated their importance in the maintenance of normal joint biomechanics, and has suggested that their repair in pathologic situations may be the difference between a satisfactory and a poor surgical result. Hip instability has commonly been thought to occur secondary to long-term repetitive stresses within the hip capsule, particularly during sports such as golf or ballet, but it can also arise as a result of traumatic hip dislocation or subluxation. Inherited collagen diseases such as Ehlers-Danlos should also be suspected and evaluated for, especially in the presence of multiple joint laxities, in order for appropriate treatment to be provided. Conservative treatment regimens are usually pursued when the diagnosis is first made, and surgical intervention is offered only if the patient fails to improve. Capsular laxity repair can be performed by either an open or arthroscopic approach. Arthroscopic thermal capsulorrhaphy or capsular plication has been described in the literature with good short-term results and is our preferred method of treatment for this pathology.

The Ehlers-Danlos syndromes (EDS) are a group of hereditary disorders that affect collagen and connective tissue structures throughout the body. Several subtypes have been identified [1], including...

Over the past 15 years, my caseload of patients with Ehlers-Danlos syndromes (EDS)4 has increased from two a year to two a month. Almost all have hypermobile EDS. The 2017 classification aimed to tighten the categorisation of EDS1 but seems to have substantially increased the number of patients instead. The new diagnostic approach is of the “pick and mix” variety; careful selection shows that all …

Ghali and colleagues discuss the clinical updates of Ehlers-Danlos syndromes (EDS).1 Ophthalmic manifestations have been reported in …

What you need to know Awareness of the Ehlers-Danlos syndromes (EDS) in the UK has risen over the past decade, in part due to high profile of EDS patient organisations and the EDS National Diagnostic Service commissioned in 2009. Significant advances in genetic testing have culminated in the publication of a new international classification in 2017 with 13 types identified.1 Clinicians will see an increasing number of patients, some of whom will suspect a diagnosis of EDS themselves. This article is intended to support non-specialist clinicians to consider the diagnosis of this group of conditions in appropriate patients. It discusses the features of the different types of EDS and explains how clinicians can expect their patients to be managed in secondary care. ### How this article was created The authors are members of the International Consortium on Ehlers-Danlos Syndromes and Related Disorders and participated in literature searches used for the basis of the articles written on the new classification of EDS published in 2017. The authors have more than 10 years’ experience of EDS patient consultations and data collection in the highly specialised EDS service. Ehlers-Danlos syndromes (EDS) refer to a group of inherited connective tissue …

ObjectivesTo determine whether there is similarity between tetradecyl sulfate and polidocanol in stabilising a joint from dislocating in patients with Ehlers-Danlos syndrome (EDS).MethodA retrospective analysis of patients with EDS in a sole-practice clinic in New Zealand. Patients must have had the diagnosis of EDS, had easily dislocatable joints, had treatment and at least 3 months’ follow-up. 0.11% tetradecyl sulfate solution, or 0.25% polidocanol solution, was injected to ligament attachments (enthesis) on the side of the joints where they dislocated. Patients were deemed successfully treated if their affected joints were no longer dislocated over a minimum of 3 months’ follow-up (out to 3 years).ResultsOf 250 patients at the time of the study, 46 fitted the criteria. There were 37 treated with tetradecyl sulfate and nine with polidocanol. For the tetradecyl group there were a total of 305 injections around 97 joints: mean 3.1, range 1–22, median 2. For the polidocanol group there were 36 injections around 19 joints: mean 1.9, range 1–8, median 2. The difference of means between group 1 (tetradecyl) and group 2 (polidocanol) is 1.2, CIs 0.34 to 2.98. All patients had no further dislocations of treated joints unless they had a major new injury (two patients).ConclusionThere was no difference between the two groups for stabilising joints from dislocating. These two agents appear promising for treating patients with recurrent joint dislocations in the setting of EDS. Prospective multicentre randomised controlled trials are needed to confirm these data.

We report the case of an 18-years-old patient with thumb carpometacarpal ligament laxity due to Ehlers-Danlos syndrome who was treated with trapezial opening wedge osteotomy combined with volar ligaments reconstruction. Two years postoperatively she is pain free and the thumb carpometacarpal joint is stable.

Ehlers-Danlos syndrome is a disorder of the connective tissue. There are six forms of the disease, with the vascular form being the most dangerous. Persons with this form of the disorder are often misdiagnosed. At times the first indication of the disease is arterial rupture, which is often lethal. The Ehlers-Danlos National Foundation was established to bring awareness, provide support, and raise funds for research. This nonprofit organization was founded in 1985 by one person and has grown to include many thousands of members that either have a form of the disorder or care for someone with it.

ResumenIntroducciónEl síndrome de Ehlers-Danlos (ED) comprende un grupo heterogéneo de enfermedades hereditarias del tejido conectivo; se reconocen 6 variedades principales. El tipo VI o variedad xifoescoliótica (ED-VI) es una variante rara, con modo de herencia autosómico recesivo, caracterizada clínicamente por hipotonía muscular neonatal, xifoescoliosis progresiva, hiperlaxitud articular, piel frágil e hiperelástica, osteopenia, ruptura de arterias, microcórnea y fragilidad de esclera, con riesgo de ruptura del globo ocular.El objetivo del reporte es la presentación de un paciente con síndrome de ED-VI identificado por la ruptura del globo ocular posterior a un trauma leve.Caso clínicoPaciente masculino de 13 años que acude por disminución de la agudeza visual de 12 h de evolución posterior a trauma leve en ojo derecho. A la exploración se encontró: agudeza visual de percepción de luz que no discrimina color, hipotonía, hiposfagma y quemosis de 360°, córnea transparente de 9.8mm, cámara anterior estrecha, hipema 70%, otras estructuras no eran valorables; el ultrasonido modo B demostró pérdida de la continuidad escleral; en ojo izquierdo la agudeza visual era de 20/60, córnea de 9.8mm, esclera de tonalidad azul-grisácea, otras estructuras sin alteraciones. En la cirugía se describió esclera delgada y friable, así como músculos friables. En la valoración sistémica se encontró: piel hiperelástica, escoliosis toracolumbar, cicatrización atrófica e hiperlaxitud articular.ConclusionesEn todo paciente con ruptura del globo ocular asociado a trauma leve debe considerarse la posibilidad del síndrome de ED, por lo que será conveniente contar con historia clínica y valoración sistémica.AbstractIntroductionEhlers-Danlos syndromes (EDS) comprises a clinically and genetically heterogeneous group of heritable disorders of connective tissue. Classification recognizes 6 main subtypes. The ED type VI or kyphoscoliotic type (ED-VI) is a rare autosomal recessive inherited disease characterized by severe neonatal muscular hypotonia, kyphoscoliosis, joint hypermobility, skin fragility, osteopenia, rupture of arteries, microcórnea and scleral fragility with increased risk of eye globe rupture.This is a case report of eye globe rupture in a patient with ED-VI.Case reportA 13-year male patient consulted with decreased visual acuity after a mild trauma in right eye. Ophthalmic examination showed in right eye: Visual acuity of light perception with no color discrimination, hypotonic eye, hyposphagma and chemosis 360°, clear cornea with a horizontal diameter of 9.8mm, hyphema 70%, others structures were not valuable; left eye with visual acuity of 20/60, corneal horizontal diameter of 9.8mm and lightly blue-gray sclerae, no other abnormalities were found. Systemic evaluation demonstrated smooth and hyperelastic skin, scoliosis, atrophic scars and joint hypermobility.ConclusionsIn every patient with eye globe rupture associated with mild trauma we must consider the diagnosis of EDS. It is necessary to have a complete medical record and systemic evaluation.

Study background: Chronic pain in patients with Ehlers-Danlos hypermobility type can be a severe, debilitating disorder. Scientific literature on pain treatment in these patients is scarce. We present a case report on spinal analgesic drug delivery for diminishing pain. Methods: Multidisciplinary consultation in adult female patient with Ehlers-Danlos, hypermobility type. Implanting Synchromed® II pump (Medtronic, Minneapolis, MN, United States of America) after successful trial period. One year follow-up. Results: During the trial period, verbal Numerical Rating Scale decreased from 8 to 3 with 0.72 mg of spinal morphine (2 mg/mL, 0.36 mL/day) and no oral or transdermal opioids. The spinal morphine/hydromorphone infusion schemes and verbal NRS for pain after implantation are presented. Baseline and follow-up results at one year from the other questionnaires are presented. Wound healing was successful. Conclusion: Spinal analgesic drug delivery can be an option to treat chronic, widespread pain in patients with Ehlers-Danlos syndrome, hypermobility type. Multidisciplinary consultation is necessary to deal with the wide variety of problems in these patients

Recently, patients with Ehlers Danlos syndrome (EDS) and a Chiari I malformation have made representation to the UK Department of Health for funding to be treated abroad. This action arises out of ...

No abstract available. Article truncated after 150 words. The March 2017 Arizona Thoracic Society meeting was held on Wednesday, March 22, 2017 at the HonorHealth Rehabilitation Hospital beginning at 6:30 PM. This was a dinner meeting with case presentations. There 11 attendance representing the pulmonary, critical care, sleep, thoracic surgery and radiology communities. There was a discussion of supporting the Tobacco 21 bill which had been introduced into the Arizona State Legislature. The bill was assigned to the House Commerce Committee but was not scheduled for a hearing by the Chair-Representative, Jeff Wininger from Chandler. It seems likely that the bill will be reintroduced in the future and the Arizona Thoracic Society will support the bill in the future. Three cases were presented: 1. Dr. Bridgett Ronan presented a 57-year-old man with cough and shortness of breath. His physical examination and spirometry were unremarkable. A thoracic CT scan showed large calcified and noncalcified pleural plaques and mediastinal lymphadenopathy. …

Born in Edinburgh in 1774 Sir Charles Bell, as a young man, studied anatomy and surgery in his hometown. There followed a distinguished career that culminated in his becoming the first professor of Anatomy and Surgery at the College of Surgeons in London. Renowned as a brilliant neuroanatomist he was invited, on the advice of His Grace the Archbishop of Canterbury and the Bishop of London, to contribute one of eight volumes of a work on the Power Wisdom and Goodness of God as manifested in the Creation - known as the Bridgewater Treatises. 'The Hand its Mechanism and Vital Endowments as Evincing Design' was published in 1833 and it is an account of his considering the hand as a machine that has been engineered to exacting standards to interact with the environment in which we live. In it he expressed a deep understanding of the similarity of the structure of the upper limbs of the higher orders of animals. The similarity of the paddle of a turtle and a human hand with acrosymbrachydactyly is unmistakable. This congenital abnormality, given the eponymous title of Apert's syndrome, is one of a number of congenital abnormalities that have parallels in the animal kingdom. Others who have had similar syndromes named after them include Poland, Marfan, Streeter and a number of others. The life and times of these men and their contributions to medicine will be presented in this paper.

Introduction/Background The Ehlers–Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joints hypermobility, skin hyperextensibility and tissue fragility. The international EDS Consortium proposes a revised EDS classification [1] and a set of clinical criteria that are suggestive for the diagnosis. In France, poles of competences were created in 2017, one of which in Perpignan Hospital. We reports one year's activity of this. Material and method We use the EDS Consortium classification and clinical criteria for diagnosis, possibly supplemented by a geneticist for questionable dagnosis. The confirmed diagnosis entered into treatment protocols including rehabilitation, pain treatment, pychological and socio-professional handlings. Results The population includes 36 subjects (29 female, 7 male) with a medium age of 36.7 years (6–73) with EDS diagnosis. Nineteen of them (52.8%) were confirmed, 6 (16.6%) refuted and 11 (30.6%) questionable, justifying a geneticist view. Among these, 6 were confirmed, 5 refuted. Finally, 25 subjects (69.4%) were confirmed and enter into treatment protocols, including sphincters disorders for 9 (25.0%), 11 (30.6%) were refuted, arising from differential diagnosis. Conclusion EDS have underestimated for a long time. Currently, the risk is the opposite, relating to the banality of some symptoms that can carry a diagnosis by excess, hence the importance of specific criteria [1] . As to the treatment protocols, they can make use of validated drugs and technics. A work in this area (evidence based medicine) is ongoing to define these with French Health Insurance and National Authority for Health.

Resume Nous rapportons le cas d’un patient de 20 ans admis aux urgences pour une masse de la cuisse droite d’apparition spontanee evoluant dans un contexte d’apyrexie. L’examen clinique objectivait une masse d’allure vasculaire. L’angioscanner arteriel des membres revelait un faux-anevrisme aux depens d’une branche de l’artere femorale profonde droite. Le diagnostic de syndrome d’Ehlers-Danlos de type vasculaire a ete retenu sur des criteres cliniques. Le traitement etait chirurgical avec une mise a plat et ligature de la branche nourriciere du faux-anevrisme. Les suites operatoires etaient simples avec une evolution favorable.

Resume Introduction Le syndrome d’Ehlers-Danlos (SED) constitue un groupe de maladies heterogenes correspondant a une alteration des fibres de collagene d’origine genetique. Nous presentons le cas d’un patient atteint de l’exceptionnel type VIII, associant dermite ocre et parodontopathie, de diagnostic tardif. Observation Un homme de 29 ans consultait pour un ulcere pretibial evoluant depuis sept ans, secondaire a un hematome post-traumatique et n’ayant jamais cicatrise. Le diagnostic de syndrome de Marfan avait ete pose auparavant devant son morphotype longiligne. Depuis, on notait la survenue d’une edentation complete par « fragilite de l’os alveolaire ». A l’examen, on notait un morphotype marfanoide, un ulcere pretibial au sein d’une dermite ocre bilaterale ancienne, des cicatrices papyracees, mais pas d’hyperlaxite articulaire ni d’hyperextensibilite cutanee. Le diagnostic etait alors corrige en SED de type VIII. Discussion Le type VIII est une forme rare de SED, de mecanisme moleculaire inconnu. L’atteinte du tissu conjonctif parodontal suggere l’alteration des proteines des collagenes I et III. Ce type est important a reconnaitre car il existe une parodontopathie dont la prise en charge doit etre precoce pour tenter de prevenir l’edentation. Ce cas montre a contrario l’importance du diagnostic, qui peut etre fait sur la dermite ocre bilaterale apparue des l’âge de 15 ans, associee a une fragilite cutanee. Ce signe ne fait pas partie du tableau classique de la maladie de Marfan, avec laquelle le SED de type VIII est souvent confondu.

Ehlers-Danlos syndrome is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs. It is one of the oldest known causes of bruising and bleeding and was first described by Hipprocrates in 400 BC. Edvard Ehlers, in 1901, recognized the condition as a distinct entity. In 1908, Henri-Alexandre Danlos suggested that skin extensibility and fragility were the cardinal features of the syndrome. In 1998, Beighton published the classification of Ehlers-Danlos syndrome according to the Villefranche nosology. From the 1960s the genetic make up was identified. Management of bleeding problems associated with Ehlers-Danlos has been slow to progress.

A 23- year-old Thai female presented with skin laxity and delayed wound healing. Physical examination revealed asymmetry of face and hypertelorism of both eyes. Microtia of right ear, right periauricular pit, multiple fish mouth and cigarette paper scars were found. There were hyperextension of elbows and knees, 10 degrees and 15 degrees, respectively, Passive hyperflexion of the 5th finger more than 90 degrees was demonstrated. According to Villefranche’s criteria, she had all major criteria for the diagnosis of Ehlers-Danlos syndrome, classic type. She also had hemifacial microsomia and ocular abnormalities that were compatible with Goldenhar syndrome. To our knowledge, a case of Ehlers-Danlos syndrome associated with Goldenhar syndrome has never been reported. This article presents the case of co-incidence of these two rare syndromes.

The hypomineralization is a pathology that has great clinical relevance, where the affected dental enamel presents areas of discoloration, with higher fracture risk, high risk caries and high sensitivity. The aim of work was to perform a survey of possible carriers of Ehlers-Danlos syndrome (EDS), through the Beighton test, which is attributed to a heterogeneous group of genetic amendments of the structure and collagen synthesis and connective tissue and be able to associate the relationship the incidence of MIH in this group. Because it is known that collagen is of paramount importance to dental development, and if occurs the interference by addition of destructive agents in their midst this will inhibit tooth morphogenesis. As the diagnostic of this syndrome in childhood is very difficult because children are more flexible, associate the detection of the presence of MIH may alert the investigation of Ehrles-Danlos syndrome, demonstrating the severity of structural anomalies, in this manner the early treatment can improve the quality of life of this population group.

Resume Objectif. – La maladie d'Ehlers-Danlos est une maladie genetique rare et encore mal connue. Ses formes cliniques variees et l'absence de test biologique specifique en rendent le diagnostic encore trop rare et trop tardif. Pourtant, l'hyperlaxite ligamentaire et les douleurs sont source d'un handicap parfois majeur. Cas clinique. – Nous relatons ici le cas de deux femmes, l'une presentant des douleurs lombaires mecaniques avec scoliose associees a une instabilite des articulations de la main et l'autre presentant une forme hypermobile avec luxations multiples et aggravation notable pendant sa grossesse. Discussion. – Les principales genes fonctionnelles dans la maladie d'Ehlers-Danlos sont les douleurs, la fatigabilite a l'effort, les problemes de prehension et de deplacements. La place de la chirurgie est importante mais peut etre risquee chez ces patients et ses resultats sont peu quantifies. La medecine physique et de readaptation a une place importante dans la prise en charge du handicap osteoarticulaire. Conclusion. – La maladie d'Ehlers-Danlos est une pathologie evolutive invalidante devant etre connue du medecin reeducateur pour permettre une prise en charge optimale du handicap et prevenir les complications osteoarticulaires.

The Sack–Barabas syndrome, the vascular type of Ehlers–Danlos syndrome type IV, is considered the most serious form of Ehlers–Danlos syndrome as the vascular system is prone to aneurysmatic degeneration and rupture without preference of anatomic regions. We report a patient with Sack–Barabas syndrome who was treated by one vascular surgeon for 16 years, from the first of many operations until death at the age of 27.

A woman aged 46 years with a history of vascular Ehlers Danlos syndrome presented with atypical chest pain. She had previously required a mitral valve replacement for mitral valve prolapse. She was found to have a Stanford type A aortic dissection and underwent aortic root, ascending aorta, and hemiarch replacement. The features that should alert clinicians to aortic dissection are reviewed, along with a brief discussion of the manifestations of vascular Ehlers Danlos syndrome.

Background: Ehlers-Danlos syndrome comprises a group of rare inherited connective tissue diseases characterized by skin hyperextensibility, joint laxity, skin and vessel fragility, and poor wound healing. Objective: The purpose of this report was to describe the clinical, histologic, and ultrastructural findings in 2 dogs with collagenopathies consistent with Ehlers-Danlos syndrome. Methods: Two dogs were examined clinically; skin extensibility index was calculated. Skin biopsies obtained from the dorsum were examined by light and electron microscopy. Results: Both dogs had clinical signs of skin hyperextensibility and fragility, lower skin elasticity, vessel fragility, and poor wound healing. One dog had a hip dislocation, and the other had bilateral medial patellar luxation (grade II), subcutaneous hematomas produced by minimal trauma, and generalized periodontitis. Histologic and ultrastructural examination confirmed abnormalities in the structure and arrangement of collagen fibrils. Fibroblasts were characterized by variable dilatation of the rough endoplasmic reticulum, and anomalous elastic fibers (elaunin fibers) were present in the dermis. Conclusion: Although the primary defects underlying collagenopathies in animals are still unknown, analysis of the ultrastructural changes in collagen fibrils and clinical findings could facilitate better characterization of these disorders in dogs.

Ehlers–Danlos syndrome (EDS) is a rare disorder caused by abnormalities in the synthesis and structure of collagen. The resultant tissue fragility and weakness can lead to multiple surgical conditions. In this report we present the very rare and life threatening case of a massive spontaneous diaphragmatic rupture in a 35-year-old man with EDS and reflect on the literature, highlighting points to consider when managing such complex patients.

Ehlers-Danlos type IV is a major concern to vascular surgeons because it is often associated with spontaneous hemorrhage from arteries containing decreased type Ill collagen. Five members of a family with Ehlers-Danlos type IV and a review of another family of five with Ehlers-Danlos type IV are reported. Evaluation of the recent family included clinical evaluation as well as assay of collagen production. The age range of the three involved females and two males was 7 to 52 years. The father of the affected family had a spontaneous colon perforation at age 39. His son, at age 27, had a spontaneous rupture of the iliac artery. Revascularization was accomplished with difficulty. His daughter had a large cerebral bleed. Two granddaughters, ages 7, have not had any bleeding or aneurysmal events. The amount of type Ill collagen was only 10% of normal in the patient with the iliac artery rupture. The three females all exhibited similarly low levels of type Ill collagen. The father's type Ill collagen level was not sufficiently low to confirm Ehlers-Danlos type IV, although he had a spontaneous colon perforation. In the other Ehlers-Danlos type IV family of five, the three surviving members had type Ill collagen levels as low as 5% of normal. Two family members died after spontaneous iliac rupture at ages 24 and 33. Both families exhibited an autosomal dominant inheritance pattern. Ehlers-Danlos type IV remains a challenging problem for vascular surgeons. It is transmitted as an autosomal dominant inheritance with a high degree of penetrance. Spontaneous arterial and intestinal perforations should alert the clinician to the possibility of Ehlers-Danlos type IV. Patients should be evaluated noninvasively. Arterial repairs may not be successful in these patients because the vessels are extremely friable. Assays of collagen production are advisable in establishing the diagnosis.

Ehlers-Danlos syndrome type IV (EDS type IV), the vascular type, results from mutations in the gene for type III procollagen (COL3A1). Affected patients are at risk for arterial, bowel, and uterine rupture. The timing, frequency and course of these events are unpredictable. We report a 50-year-old patient with previous complications of EDS type IV who presented with recurrent varicose veins that subsequent imaging identified as an arteriovenous fistula (AVF) at the site of previous phlebectomy.Patients with EDS type IV present vascular surgeons manifold management problems. A pre-existing diagnosis of EDS type IV should alert the clinician to the risk of unusual presentations, both acutely and as complications subsequent to intervention. Once identified, appropriate investigation and follow-up of these patients by a vascular surgeon is mandated.