Graft versus host disease-related eosinophilic fasciitis: cohort description and literature review

Abstract Background: Chronic graft versus host disease (cGVHD) simulating eosinophilic fasciitis (EF) is an underdiagnosed and challenging complication due to the lack of knowledge about its pathogenesis, refractoriness to traditional immunosuppressive agents and their negative impact on the physical function and quality of life. The aim of this study is to describe the clinical-biological characteristics and response to treatment of a case series and to provide a comprehensive literature review on cGVHD related EF involvement. Methods: Prospective observational study to describe the clinical and diagnostic evaluation characteristics of patients with EF-like follow-up as part of our multidisciplinary cGVHD consultations. In addition, the literature on joint and/or fascial musculoskeletal manifestations due to cGVHD was comprehensively reviewed. Results: 118 patients were evaluated in multidisciplinary cGVHD consultations, 39 of whom (33%) developed fasciitis. Notably, 11 patients had isolated joint contractures without sclerotic skin. After a median of three lines of treatment, the vast majority of patients achieved some degree of response. 94 potentially eligible articles were identified by the search strategy, with 17 of them, the majority isolated case reports, making the final selection. The validated staging scales used for the assessment were the Joint and Fascial Score and the Photographic Range of Motion. Conclusion: Fascial/articular involvement needs to be recognized and evaluated early. To our knowledge, our cohort is the second largest series to have been reported. Literature addressing fascial/joints complications related to cGVHD is scarce. The search for new biomarkers, the use of advanced imaging techniques and multidisciplinary approach may help improve the prognosis of patients with cGVHD.

Juvenile hyaline fibromatosis: a case report and literatures review / 口腔疾病防治

Objective@#To investigate the clinicopathological characteristics, imaging manifestations, genetic manifestations, diagnosis and treatment of juvenile hyaline fibromatosis.@*Methods @# A case of juvenile hyaline fibromatosis was reported, and the patient's clinical manifestations, imaging examinations, histopathological examinations, genetic changes and treatment were summarized and analyzed.@*Results @#Juvenile hyaloid fibromatosis is more common in infants and children. This patient had typical clinical and pathological manifestations, including posterior occipital masses, skin and subcutaneous nodules, gum hyperplasia, joint contractures, and joint osteolytic lesions. The histopathological lesions were characterized by the proliferation of spindle cells in the tissue accompanied by a large amount of amorphous transparent matrix. Genetic testing was performed to confirm an ANTXR2 gene mutation, consistent with the known genetic changes of juvenile hyaline fibromatosis. The 6-month follow-up of the patient showed that there was no obvious recurrence after resection of the gum and facial mass. In addition to surgery, the treatment of this disease requires multidisciplinary symptomatic treatment combined with rehabilitation and supportive treatment to achieve a better prognostic effect.@*Conclusion@# Juvenile hyaline fibromatosis is a rare nonneoplastic autosomal recessive genetic disease. Mutations in the ANTXR2 gene lead to disorders of collagen synthesis and metabolism in the tissues and further cause subcutaneous nodules, gingival hyperplasia, joint contractures and bone dissolution.

Case report of type Ⅱ Bruck syndrome caused by PLOD2 gene mutation combined with loss of heterozygosity / 中华实用儿科临床杂志

To analyze the clinical characteristics and genetic data of a child with type Ⅱ Bruce syndrome (type Ⅱ BS) admitted to the Department of Orthopedics, Shanxi Children′s Hospital at May 2020.A 3-day-old boy was admitted due to the pain and swelling of the right lower limb 3 days after birth.Due to the patient had multiple fractures, callus formation after clavicle and rib fracture, greendstick fracture of the humerus, right femur fracture, left tibia and fibula fracture, congenital clubfoot, and congenital contracture of wrist, elbow, hip and knee joint, and therefore, chromosome diseases were considered.Gene sequencing data showed gene mutation in PLOD2 with compound heterozygosity deletion of the child (proband), and mutation and heterozygosity deletion came from their parents, respectively.The patient was diagnosed as type Ⅱ BS.This case report alarms clinicians to identify a missense mutation of PLOD2 and loss of heterozygosity, so as to reduce the misdiagnosis rate and achieve early diagnosis and treatment.

Clinical effect of plum-blossom needle tapping at three meridians of wrist on wrist joint contracture after stroke / 中国针灸

OBJECTIVE@#To compare the therapeutic effect of plum-blossom needle tapping at three meridians of wrist combined with rehabilitation training and simple rehabilitation training on wrist joint contracture after stroke.@*METHODS@#A total of 72 patients with wrist joint contracture after stroke were randomized into an observation group and a control group, 36 cases in each one. In the control group, simple rehabilitation training was applied, 5 times a week, 3 weeks as one course and totally 3 courses were required. On the basis of the treatment in the control group, plum-blossom needle tapping at three meridians of wrist was adopted in the observation group. The tapping regions were wrist traveling parts of three meridians of hand, ranging from up 3 to below 1 of wrist crease, 3 times a week, 3 weeks as one course and totally 3 courses were required. The active range of motion (AROM) of active wrist extension, Fugl-Meyer score (FMA) and Barthel index (BI) score were observed before and after treatment in the two groups.@*RESULTS@#The AROM, FMA scores and BI scores after treatment in the two groups were superior to before treatment (<0.05), and the improvements of 3 indexes in the observation group were superior to the control group (<0.05).@*CONCLUSION@#The therapeutic effect of plum-blossom needle tapping at three meridians of wrist combined with rehabilitation training is superior to simple rehabilitation training on wrist joint contracture after stroke.

Juvenile hyaline fibromatosis in siblings

Background: Juvenile Hyaline Fibromatosis is a rare autosomal recessive connective tissue disorder. Case Characteristics: Three year old girl with multiple facial nodules, gingival hypertrophy and multiple joint contractures. Her sibling, male child also had similar findings which was progressive and he died at 2 years. Outcome: Nodule biopsy showed extensively hyalinised dermis with PAS positivity. Message: Juvenile Hyaline Fibromatosis is a differential diagnosis for children presenting with multiple nodular lesions.

Rehabilitation in Children With Sclerodermoid Chronic Graft-Versus-Host Disease: Case Series

Joint contracture in chronic graft-versus-host disease (cGVHD) is refractory to treatment, and tends to deteriorate gradually over time. There is scant clinical research focusing on timing and intensity of rehabilitation on joint contractures in children with sclerodermoid cGVHD after hematopoietic stem cell transplantation. We retrospectively reviewed rehabilitative therapeutic effects in 6 children with sclerodermoid cGVHD, whose clinical records documented their condition, before and after rehabilitation therapies. Three children who started treatment within a mean of 2 months after the onset of joint symptoms, and who underwent home-based exercise twice daily for 30 minutes showed more prominent improvement in range of motion compared with the other 3 children, who started rehabilitation therapy later than 6 months after onset of joint symptoms, without regular home-based exercise.

The mechanisms and treatments of muscular pathological changes in immobilization-induced joint contracture: A literature review / 中华创伤杂志(英文版)

The clinical treatment of joint contracture due to immobilization remains difficult. The pathological changes of muscle tissue caused by immobilization-induced joint contracture include disuse skeletal muscle atrophy and skeletal muscle tissue fibrosis. The proteolytic pathways involved in disuse muscle atrophy include the ubiquitin-proteasome-dependent pathway, caspase system pathway, matrix metalloproteinase pathway, Ca-dependent pathway and autophagy-lysosomal pathway. The important biological processes involved in skeletal muscle fibrosis include intermuscular connective tissue thickening caused by transforming growth factor-β1 and an anaerobic environment within the skeletal muscle leading to the induction of hypoxia-inducible factor-1α. This article reviews the progress made in understanding the pathological processes involved in immobilization-induced muscle contracture and the currently available treatments. Understanding the mechanisms involved in immobilization-induced contracture of muscle tissue should facilitate the development of more effective treatment measures for the different mechanisms in the future.

Síndrome de fibromatosis hialina: reporte de dos casos de una misma familia / Hyaline fibromatosis syndrome: case report of two siblings

El síndrome de fibromatosis hialina es una enfermedad autosómica recesiva rara, que se caracteriza por la presencia de contractura y dolor articular, placas y nódulos hiperpigmentados e hipertrofia gingival, producto de la acumulación de un material amorfo hialino similar al colágeno tipo VI en diferentes tejidos. Esta enfermedad incluye el síndrome de hialinosis sistémica y la fibromatosis hialina juvenil, dos entidades que, durante años, fueron consideradas de manera separada; sin embargo, las características clínicas y la edad de presentación se superponen. Además, ha sido documentado que la causa de ambas entidades se localiza en un mismo gen. Se presentan dos casos de hermanas de una misma familia colombiana afectadas por la enfermedad.

Hyaline fibromatosis syndrome is a rare autosomal recessive disease characterized by the presence of contracture and joint pain, hyperpigmented plaques and nodules and gingival hypertrophy. These findings are the result of the accumulation of a hyaline amorphous material similar to collagen type VI in different tissues. This syndrome includes systemic hyalinosis and juvenile hyaline fibromatosis, two entities that for years were considered separately. However, it has been documented that the cause of both entities is located in the same gene and the clinical features and age of presentation are overlapped. In this study two cases of sisters from a same colombian family affected by the disease are presented.

Unusual manifestation of Marden-walker syndrome.

Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis. We report a case of MWS along with unusual manifestation of neurological, cardiovascular, and genitourinary system.

Joint Contracture and Radiologic Features in Mucopolysaccharidosis / 대한정형외과학회잡지

PURPOSE: To evaluate the clinical manifestations of contracted joints and the radiological features in mucopolysaccharidosis(MPS). MATERIALS AND METHODS: From January 1996 to March 2002, 15 children from a pool of children diagnosed with MPS through a fibroblast culture and an enzyme assay, who could tolerate a large umber of examinations, underwent orthopedic physical and radiological examinations. RESULTS: There were limitations in the abduction and internal rotation of the shoulder, extension limitation of the wrist, and internal rotation of the hip joint and flexion contractures of the elbow and DIP joints. Scoliotic deformities were all within the physiological curve. There were only three cases of a dorsolumbar kyphotic change and there were no neurological deficits due to the spinal deformities. The mean bone age was delayed compared with the mean chronological age. As the chronological age increased, the gap between the chronological age and the bone age increased. CONCLUSION: Joint contracture, which is the most severe symptom in orthopedic aspect, was more severe in the upper extremities than in the lower extremities. The spinal deformity was relatively mild and there were no neurological problems. The bone age tended to be delayed as the chronological age increased.

Effect of Pregnancy on Knee Joint Contracture in the Rat

OBJECTIVE: To study the effect of pregnancy on knee joint contracture in the rat, because the laxity of peripheral joint increases during pregnacy. METHOD: We evaluated the difference of contracture between the pregnant and non-pregnant female rats after 3 week of knee immobilization using a wire. The femorotibial angle at immobilization status was 30o. After immobilization, the femorotibial angle were measured using X-ray after removal of wire at 50 g and 100 g weighted state on the tibia. To study the change of fibroblast in immobilized knee joint ligament, immunohistochemical staining for actin was performed using alpha-smooth muscle actin antibody (DAKO, Denmark). RESULTS: The femorotibial angles were 116.7+/-9.2o and 97.3+/-18.0o after wire removal, in the immobilized pregnant and nonpregnant rats respectively. The femorotibial angles at 50 g and 100 g weighted state were 136.8+/-7.2o and 144.7+/-3.8o, respectively in the immobilized pregnant rats and 129.4+/-12.7o and 136.3+/-8.9o in the immobilized non-pregnant rats. The angles of pregnant group were significantly larger than those of non-pregnant group (p<0.05). In immobilized pregnant and non-pregnant rats, the alpha-smooth muscle actin was moderately expressed in fibroblast of anterior and posterior cruciate ligaments of the knee by immunohistochemistry, while there was no expression of alpha-smooth muscle actin in fibroblast of the ligaments in the non-immobilized knee. CONCLUSION: Joint contracture develops to a lesser degree in pregnant rats than in non-pregnant rats and alpha-smooth muscle actin is expressed in fibroblast of contractured knee ligaments.