Ehlers-Danlos Syndrome(EDS) is an inherited disorder of the connective tissue disease that is usually transmitted as autosomal dominant trait. The defect in the biogenesis of collagen results in varying degree of skin hyperextensibility, joint hypermobility, skin fragility and bruising. There have been several reports of cardiac or great vessel abnormalities in patients with the EDS. A 45-year-old Woman was admitted to Maryknoll hospital because of orthopnea, palpitation and epigastric discomfort. Physical examination reveals multiple variable sized bruises and increased hyperelasticity on skin, and hypermobile joint in knee and proximal interphalanges of both hands. Mitral valvular prolapse and atrial septal defect were detected by echocardiography. We report a case of EDS accompanied by mitral valvular prolapse and ostium secundum atral septal defect with brief review of literature.
Organelle Biogenesis ; Collagen ; Connective Tissue Diseases ; Contusions ; Echocardiography ; Ehlers-Danlos Syndrome* ; Female ; Hand ; Heart Septal Defects, Atrial* ; Humans ; Joint Instability ; Joints ; Knee ; Middle Aged ; Physical Examination ; Prolapse* ; Skin

Ehlers-Danlos syndrome (EDS) is an inherited disorder of collagen biosynthesis and structure, characterized by skin hyperextensibility, joint hypermobility, aberrant scars, and tissue friability. Besides the skin, skeleton (joint) and vessels, other organs such as the eyes and the intestine can be affected in this syndrome. Accordingly, interdisciplinary cooperation is necessary for a successful treatment. Three basic surgical problems are arising due to an EDS: decreased the strength of the tissue causes making the wound dehiscence, increased bleeding tendency due to the blood vessel fragility, and delayed wound healing period. Surgery patients with an EDS require an experienced surgeon in treating EDS patients; the treatment process requires careful tissue handling and a long postoperative care. A surgeon should also recognize whether the patient shows a resistance to local anesthetics and a high risk of hematoma formation. This report describes a patient with a wide open wound on the foot dorsum and delayed wound healing after the primary approximation of the wound margins.
Anesthetics, Local ; Blood Vessels ; Cicatrix ; Collagen ; Connective Tissue Diseases ; Ehlers-Danlos Syndrome ; Foot ; Hematoma ; Hemorrhage ; Humans ; Intestines ; Joint Instability ; Postoperative Care ; Skeleton ; Skin ; Wound Healing ; Wounds and Injuries

Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder characterized by skin hyperelasticity, joint hypermobility and tissue fragility. The clinical manifestations vary depending on the type of disease. Due to multi-organ involvement and varied clinical presentations, no uniform anesthetic recommendations can be made. We report a case of a patient with EDS of an unknown type who successfully underwent an emergency cesarean section under general anesthesia.
Anesthesia* ; Anesthesia, General ; Cesarean Section* ; Connective Tissue ; Connective Tissue Diseases ; Ehlers-Danlos Syndrome* ; Emergencies ; Female ; Humans ; Joint Instability ; Pregnancy ; Skin

Fat embolism syndrome is a serious complication that can occur after trauma or operation of the limbs. Clinical criteria are used for the diagnosis of fat embolism syndrome and sometimes radiologic findings are helpful. Fat embolism syndrome is known to occur less frequently in children than in adults, but there is an increased risk in children with connective tissue disease. However, there are only a few reported cases of fat embolism syndrome in juvenile rheumatoid arthritis which is the most common connective tissue disease in children. We report a case of fat embolism syndrome diagnosed in a 13-year-old boy with juvenile rheumatoid arthritis, which was treated with corticosteroid.
Adult ; Arthritis, Juvenile Rheumatoid ; Child ; Connective Tissue Diseases ; Embolism, Fat ; Extremities ; Humans

Ehlers-Danlos syndrome, a heritable disorder of connective tissue by autosomal dominant mode, is very rare disease in this country. Authors described a typical case in 39 years old woman who had a daughter of 6 years old also affectect by this disorder. The patient had the characteristic hyperelasticity of the skin and hyperextensibility of the jonts especially at metacarpophalangeal joint of the hands. She also revealed hyperterolism and aortic insufficiency on X-ray and E.C.G. examination.
Adult ; Child ; Connective Tissue ; Ehlers-Danlos Syndrome ; Family Characteristics* ; Female ; Hand ; Humans ; Metacarpophalangeal Joint ; Nuclear Family ; Rare Diseases ; Skin

Ehlers-Danlos syndrome type IV (EDS IV), the vascular type of EDS, is an inherited connective tissue disorder due to abnormal procollagen III synthesis by mutation of the COL3A1 gene. EDS is classified into 6 types based on clinical, biochemical, and molecular characteristics. Among them, EDS IV has the worst prognosis because of the major vascular catastrophes and the difficulty of vascular repair due to fragile connective tissue. Arterial, digestive, or uterine ruptures are the main lethal symptoms of EDS IV, and thin translucent skin, extensive bruising, and characteristic facial appearance are the other major symptoms. Although many successful results have been reported after open surgery or endovascular repair for EDS IV, surgical or endovascular procedures are still challenging to perform and sometimes are associated with serious hemorrhagic complications in EDS IV patients. In general, open surgery is not recommended except in an emergency situation, and conservative treatment is the preferred strategy for the treatment of vascular complications in EDS IV. Aneurismal diseases are observed in many EDS IV patients, and abdominal aortic aneurysm and iliac arterial aneurysm are the frequent presentations. Therefore, when treating patients with aneurysms, the vascular surgeon should consider the high possibility of connective tissue disease, especially EDS IV. Without the preoperative recognition of EDS IV, routine surgical or endovascular procedures may result in major bleeding and subsequent increased morbidity and mortality. In this article, the characteristics, clinical outcomes, and treatment strategies of EDS IV are reviewed.
Aneurysm ; Aortic Aneurysm, Abdominal ; Connective Tissue ; Connective Tissue Diseases ; Ehlers-Danlos Syndrome ; Emergencies ; Endovascular Procedures ; Hemorrhage ; Humans ; Procollagen ; Prognosis ; Skin ; Uterine Rupture

Juvenile idiopathic arthritis (JIA) is a broad spectrum of disease defined by the presence of arthritis of unknown etiology, lasting more than six weeks duration, and occurring in children less than 16 years of age. JIA encompasses several disease categories, each with distinct clinical manifestations, laboratory findings, genetic backgrounds, and pathogenesis. JIA is classified into seven subtypes by the International League of Associations for Rheumatology: systemic, oligoarticular, polyarticular with and without rheumatoid factor, enthesitis-related arthritis, psoriatic arthritis, and undifferentiated arthritis. Diagnosis of the precise subtype is an important requirement for management and research. JIA is a common chronic rheumatic disease in children and is an important cause of acute and chronic disability. Arthritis or arthritis-like symptoms may be present in many other conditions. Therefore, it is important to consider differential diagnoses for JIA that include infections, other connective tissue diseases, and malignancies. Leukemia and septic arthritis are the most important diseases that can be mistaken for JIA. The aim of this review is to provide a summary of the subtypes and differential diagnoses of JIA.
Arthritis ; Arthritis, Infectious ; Arthritis, Juvenile* ; Arthritis, Psoriatic ; Child ; Connective Tissue Diseases ; Diagnosis ; Diagnosis, Differential* ; Genetic Background ; Humans ; Leukemia ; Rheumatic Diseases ; Rheumatoid Factor ; Rheumatology

Different types of interstitial lung diseases (ILDs) develop in collagen vascular diseases (CVDs) such as scleroderma, rheumatoid arthritis, systemic lupus erythematosus, dermatopolymyositis, Sjogren's syndrome, and mixed connective tissue disease. These CVDs represent various histological patterns, including usual interstitial pneumonia, desquamative interstitial pneumonia, nonspecific interstitial pneumonia, bronchiolitis obliterance organizing pneumonia, diffuse alveolar damage, and bronchiolitis. The clinical presentations, prognosis, and response to treatment vary depending on the underlying CVDs, as well as histological patterns of ILDs. In general, the prognosis and survival rate of ILDs in CVDs are better than idiopathic ILDs. Optimal treatment also varies depending on the type of CVDs and the presence of interstitial lung disease, although in many cases, a combination of corticosteroids and cytotoxic drugs are given.
Adrenal Cortex Hormones ; Arthritis, Rheumatoid ; Bronchiolitis ; Collagen ; Dermatomyositis ; Fibrosis ; Idiopathic Pulmonary Fibrosis ; Lung Diseases, Interstitial ; Lupus Erythematosus, Systemic ; Mixed Connective Tissue Disease ; Pneumonia ; Prognosis ; Sjogren's Syndrome ; Survival Rate ; Vascular Diseases

Collagen is the major structural protein in the human body, especially in connective tissues. There are more than 13 types of collagen. Among them, type II collagen is a main component of articular cartilage structure. Altered immunological conditions against type II collagen may be closely related to the pathologic conditions of joint, especially arthritis. Since 1977, animal model for collageninduced arthritis(CIA) has been developed and used in the investigation of arthritis. In those animals, high titers of anti-type II collagen antibody were noticed. Pathologic findings were similar to rheumatoid arthritis of human, which suggested that rheumatoid arthritis might be one of the autoimmune diseases. There had been many reports about elevation of serum and synovial level of anti-type II collagen antibody in rheumatoid arthritis patients. But majority of them did not discriminate the antibody titers according to the type of immunoglobulin(i.e. IgG, IgM). And the question whether the elevated antibody titers are cause or effect of the arthritis is still in controversy. In this study, the serum levels of anti-type II collagen antibody were determined in 82 persons(35 degenerative arthritis patients, 24 rheumatoid arthritis patients and 22 normal controls without any joint problem) via ELISA method. In each person the serum IgG, IgM and IgG+M+A antibody levels against bovine type IIcollagen and chicken typeII collagen were determined individually. Statistical evaluation of these data among degenerative arthritis group, rheumatoid arthritis group and normal control group was performed. The results were as follows; 1. Degenerative arthritis group revealed significant elevation of anti-type II collagen antibody(IgG, IgG+M+A) compared to normal control(p < 0.05). 2. Rheumatoid arthritis group showed significant elvation of IgM and IgG+M+A compared to normal control. 3. Between degenerative arthritis and rheumatoid arthritis group, no sigificant difference was noticed. 4. Rheumatoid arthritis group showed significant increase of IgM antibody level compared to normal control. 5. Female rheumatoid arthritis group showed significant increase of IgM level compared to female degenerative arthritis group. These findings suggested that the elevation of anti-type II collagen antibody titer is not specific for rheumatoid arthritis and related with general pathologies destroying articular cartilage. And it is suggested that anti-type II collagen antibody associated with rheumatoid arthritis is mainly IgM proportion, especially in female patients. So further investigation of anti-type II collagen antibody associated with rheumatoid arthritis is needed to target IgM antibody.
Animals ; Arthritis ; Arthritis, Rheumatoid ; Autoimmune Diseases ; Cartilage, Articular ; Chickens ; Collagen ; Collagen Type II ; Connective Tissue ; Enzyme-Linked Immunosorbent Assay ; Female ; Human Body ; Humans ; Immunoglobulin G ; Immunoglobulin M ; Joints ; Methods ; Models, Animal ; Osteoarthritis ; Pathology

Overlap syndrome is used to describe patients who have two or more well-defined connective tissue diseases. Although a variety of overlap syndromes are now recognized, the coexistence of the progression of juvenile rheumatoid arthritis (JRA) to systemic lupus erythematosus (SLE) is uncommon. We describe a patient who had typical deforming polyarthritis, who years later developed SLE.
Arthritis ; Arthritis, Juvenile* ; Connective Tissue Diseases ; Humans ; Lupus Erythematosus, Systemic*