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Cureus May 2024Chronic unreduced dislocations of the proximal interphalangeal joint are uncommon, and management principles for these injuries have not been defined. The dislocation...
Chronic unreduced dislocations of the proximal interphalangeal joint are uncommon, and management principles for these injuries have not been defined. The dislocation can be volar or dorsal and closed reduction is rarely successful owing to soft tissue contractures. Treatment options in literature reviews for such rare injuries included open reduction of pip joint with volar plate arthroplasty, extension block pinning, hemi hamate arthroplasty, pip joint arthrodesis, Suzuki dynamic frame fixation, open reduction and repair of capsule and collateral ligaments with suture anchors. Few cases of amputation following treatment were even reported in literature emphasizing the role of meticulous soft tissue handling in such neglected cases of hand. We report six cases of neglected (more than three months old) dorsal dislocation of the PIP joint of the hand, treated with volar plate arthroplasty and extension block pinning. A functional range of motion with a stable joint can be achieved in such injuries with volar plate arthroplasty, as long as the articular cartilage is relatively preserved and bone loss is <30%.
PubMed: 38860079
DOI: 10.7759/cureus.60077 -
The American Journal of Case Reports Jun 2024BACKGROUND H syndrome is an autosomal recessive disorder of histiocytic proliferation with clinical spectrum of unique cutaneous and systemic manifestations. There is no...
BACKGROUND H syndrome is an autosomal recessive disorder of histiocytic proliferation with clinical spectrum of unique cutaneous and systemic manifestations. There is no consistent treatment for the disease, and all available options are based on case reports. Here, we present the chronological progression of a case of H syndrome with typical cutaneous manifestations that was misdiagnosed early as meningitis-induced sensorineural hearing loss and later as a non-defined autoimmune connective tissue disease. A new tried, although failed, treatment option is described as well. CASE REPORT A 31-year-old Saudi woman born of a consanguineous marriage presented to our dermatology clinic with symmetrical indurated hyperpigmented to violaceous plaques over the medial thighs, upper legs, lower back, volar wrists, and upper arms, associated with hypertrichosis. Hallux valgus of the big toes was clinically detected as well. She had a history of sensorineural deafness, diabetes mellitus, chronic anemia, and hypothyroidism. Genetic analysis of the patient showed a homozygous frameshift pathogenic variant of the SLC29A3 gene, c.243del p.(Lys81Asnfs*20). Systemic treatments in the form of methotrexate and imatinib had been tried; however, both failed to control her sclerotic cutaneous changes. CONCLUSIONS Knowing the early life presentation and the variable clinical symptoms of H syndrome is crucial in early intervention and further prevention of the non-reversible changes. Moreover, avoiding unnecessary immunosuppressive medication use is warranted in certain circumstances.
Topics: Humans; Female; Adult; Hearing Loss, Sensorineural; Disease Progression; Histiocytosis; Nucleoside Transport Proteins; Treatment Failure; Contracture
PubMed: 38850017
DOI: 10.12659/AJCR.944198 -
Annals of Medicine and Surgery (2012) Jun 2024Diabetic cheiroarthropathy, also known as limited joint mobility, is one of the long-standing complications of type 2 diabetes mellitus (DM). It affects 8-50% of...
BACKGROUND
Diabetic cheiroarthropathy, also known as limited joint mobility, is one of the long-standing complications of type 2 diabetes mellitus (DM). It affects 8-50% of patients with type 1 diabetes and is also seen in type 2 diabetic patients. Consequently, it can mimic many rheumatological diseases and is often underdiagnosed. The authors present a case of a long-standing poorly controlled diabetes with diabetic cheiroarthropathy and diabetic neuropathy, along with positive ANA in the absence of any correlated autoimmune or rheumatological diseases.
CASE PRESENTATION
A 52-year-old female patient with poorly controlled diabetes (her last HbA1c reading was 9.5%) presented to the Rheumatology clinic with flexion deformities of the fingers. The patient has impaired vibration, two-point discrimination, and pinprick sensation in gloves and stock distribution, indicating peripheral neuropathy, entrapment neuropathy in the forms of bilateral carpal tunnel syndrome, and the diagnosis of diabetic cheiroarthropathy was made. Additionally, she has a positive prayer sign and a tabletop sign. Despite the absence of symptoms and signs of autoimmune disorders, this patient has positive anti-nuclear antibodies global (ANA positive by indirect immuno-fluorescence (IIF) 1\320 nucleolar pattern) with a negative: ANA profile, rheumatoid factor (RF) and anticyclic citrullinated peptide antibody (ACPA).
CONCLUSION
Regular and careful hand examination should be part of clinical assessment for diabetic patients as it could be a very simple and useful screening tool for diabetic cheiroarthropathy. Physicians can use this condition as a mirror for microvascular complications of diabetes. This allows for early detection and appropriate interventions to prevent further progression of diabetes-related complications. It is also essential to consider the presence of positive ANA in diabetic cheiroarthropathy despite the absence of any rheumatological and autoimmune diseases.
PubMed: 38846876
DOI: 10.1097/MS9.0000000000001993 -
Arthroscopy Techniques May 2024Checkrein deformity is rare and involves entrapment or fixed tethering of the flexor hallucis longus (FHL) in the posterior foot, just proximal to the flexor retinaculum...
Checkrein deformity is rare and involves entrapment or fixed tethering of the flexor hallucis longus (FHL) in the posterior foot, just proximal to the flexor retinaculum of the ankle, and causes the "constant length phenomenon" of FHL. The clinical presentation is a dynamic flexion deformity of the great toe characterized by flexion contracture of the interphalangeal joint with mild extension contracture of the metatarsophalangeal joint, causing difficulty in walking since in the stance phase of gait, the hallux is forced into plantar flexion and impinges onto the ground. Because the FHL tendon has some interconnection to the tendons of the flexor digitorum longus at the master knot of Henry, deformities of the second and third toes are sometimes seen. There is no standard surgical treatment for checkrein deformity. Surgical release of the FHL muscle or release/lengthening of the FHL tendon has been proposed. The purpose of this Technical Note is to report the endoscopic release of the FHL tendon at the posterior ankle for management of checkrein deformity of the great toe, second toe, and third toe.
PubMed: 38835445
DOI: 10.1016/j.eats.2024.102936 -
Experimental and Therapeutic Medicine Jul 2024The Ilizarov technology was proposed by Former Soviet orthopedic physician Ilizarov. It is a medical method to reconstruct missing tissues. Ilizarov technology combined...
The Ilizarov technology was proposed by Former Soviet orthopedic physician Ilizarov. It is a medical method to reconstruct missing tissues. Ilizarov technology combined with soft tissue stretching technology is of great significance in the treatment of common orthopedic problems like bone defects, finger absence, joint contracture and joint stiffness following thermal-crush injuries of the hand. In the present study a 25-year-old male patient sought for limb salvage treatment 1 month after sustaining thermal-crush injuries of the right hand and forearm. The patient had been treated by another hospital with multiple procedures of debridement, and recommended for forearm amputation. The patient was diagnosed with: i) Postoperative infection of thermal-crush injuries of the right hand and right forearm; ii) comminuted open fractures of the proximal and distal phalanges of the right thumb; iii) osteomyelitis; iv) palm skin defects with exposed tendons; and v) skin defects of the opisthenar and the forearm. After a series of treatments including debridement, removal of necrotic tissue, tissue transplantation, skin pedicle, bone lengthening, external shaping, tissue release, joint fusion, traction and rehabilitation exercises, the patient recovered some hand function. Overall, thermal-crush injuries of the hand are severe, complicated combined injuries composed of both heat burn and compression injury and their treatment is challenging. Overall, microsurgery combined with Ilizarov technology can effectively reconstruct the function of complex thermal-crush injuries of the hand.
PubMed: 38827471
DOI: 10.3892/etm.2024.12580 -
Cureus May 2024A rare autosomal recessive condition called infantile systemic hyalinosis (ISH) is characterized by early-onset skin lesions that progress to the formation of numerous...
A rare autosomal recessive condition called infantile systemic hyalinosis (ISH) is characterized by early-onset skin lesions that progress to the formation of numerous contractures. The underlying disease is the progressive accumulation of hyaline substances in many tissues. We are presenting the case of a male infant who was referred for evaluation and management at the age of six months. The infant had a history of recurrent episodes of diarrhea and showed limited movement in all four limbs. Upon physical examination, hyperpigmented papulonodular lesions on bony prominences and perianal regions were found, coupled with contractures in the elbow and knee joints. Hyaline deposition in the mid-dermal region was confirmed by histopathological analysis of a skin biopsy sample. The baby also had acute otitis media, which needed to be treated with antibiotics. Parents were counseled regarding the disease's diagnosis, complications, prognosis, and inheritance pattern. This case highlights the clinical presentation, diagnostic process, and management strategies employed in the care of ISH, emphasizing the importance of early recognition and multidisciplinary management in mitigating its devastating effects.
PubMed: 38826988
DOI: 10.7759/cureus.59510 -
The Turkish Journal of Pediatrics May 2024Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous...
BACKGROUND
Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous hyaline material in connective tissues. The hallmarks of the disease are joint contractures, generalized skin stiffness, hyperpigmented papules over extensor surfaces of joints, fleshy perianal masses, severe diarrhea, and gingival hypertrophy. The severity of the disease varies and prognosis is poor. No specific treatment is yet available. Most patients with the severe form of the condition pass away before the second year of age. In this study, we describe the clinical and molecular findings of a cohort of seven hyaline fibromatosis syndrome patients who were diagnosed and followed up at a single tertiary reference center in Turkey.
METHODS
Genomic DNA was extracted by standard salting out method from peripheric blood samples of three patients. In one patient DNA extraction was performed on pathology slides since peripheric blood DNA was not available. All coding exons of the ANTXR2 were amplified and sequenced on ABI Prism 3500 Genetic Analyser.
RESULTS
Sanger sequencing was performed in 3 patients and homozygous c.945T>G p.(Cys315Trp), c.1073dup p.(Ala359CysfsTer13), and c.1074del p.(Ala359HisfsTer50) variants were identified in ANTXR2. All patients passed away before the age of five years.
CONCLUSIONS
HFS is a rare, progressive disorder with a broad phenotypic spectrum. HFS can be recognized easily with distinctive clinical features. Nevertheless, it has poor prognosis with increased mortality due to severe clinical decompensation.
Topics: Humans; Hyaline Fibromatosis Syndrome; Male; Female; Infant; Child, Preschool; Receptors, Peptide; Turkey; Child
PubMed: 38814306
DOI: 10.24953/turkjpediatr.2024.4511 -
European Journal of Medical Research May 2024Joint contracture is one of the common diseases clinically, and joint capsule fibrosis is considered to be one of the most important pathological changes of joint...
Joint contracture is one of the common diseases clinically, and joint capsule fibrosis is considered to be one of the most important pathological changes of joint contracture. However, the underlying mechanism of joint capsule fibrosis is still controversial. The present study aims to establish an animal model of knee extending joint contracture in rats, and to investigate the role of hypoxia-mediated pyroptosis in the progression of joint contracture using this animal model. 36 male SD rats were selected, 6 of which were not immobilized and were used as control group, while 30 rats were divided into I-1 group (immobilized for 1 week following 7 weeks of free movement), I-2 group (immobilized for 2 weeks following 6 weeks of free movement), I-4 group (immobilized for 4 weeks following 4 weeks of free movement), I-6 group (immobilized for 6 weeks following 2 weeks of free movement) and I-8 group (immobilized for 8 weeks) according to different immobilizing time. The progression of joint contracture was assessed by the measurement of knee joint range of motion, collagen deposition in joint capsule was examined with Masson staining, protein expression levels of HIF-1α, NLRP3, Caspase-1, GSDMD-N, TGF-β1, α-SMA and p-Smad3 in joint capsule were assessed using western blotting, and the morphological changes of fibroblasts were observed by transmission electron microscopy. The degree of total and arthrogenic contracture progressed from the first week and lasted until the first eight weeks after immobilization. The degree of total and arthrogenic contracture progressed rapidly in the first four weeks after immobilization and then progressed slowly. Masson staining indicated that collagen deposition in joint capsule gradually increased in the first 8 weeks following immobilization. Western blotting analysis showed that the protein levels of HIF-1α continued to increase during the first 8 weeks of immobilization, and the protein levels of pyroptosis-related proteins NLRP3, Caspase-1, GSDMD-N continued to increase in the first 4 weeks after immobilization and then decreased. The protein levels of fibrosis-related proteins TGF-β1, p-Smad3 and α-SMA continued to increase in the first 8 weeks after immobilization. Transmission electron microscopy showed that 4 weeks of immobilization induced cell membrane rupture and cell contents overflow, which further indicated the activation of pyroptosis. Knee extending joint contracture animal model can be established by external immobilization orthosis in rats, and the activation of hypoxia-mediated pyroptosis may play a stimulating role in the process of joint capsule fibrosis and joint contracture.
Topics: Animals; Contracture; Pyroptosis; Rats; Male; Knee Joint; Rats, Sprague-Dawley; Hypoxia-Inducible Factor 1, alpha Subunit; NLR Family, Pyrin Domain-Containing 3 Protein; Hypoxia; Disease Models, Animal; Transforming Growth Factor beta1; Joint Capsule; Range of Motion, Articular; Smad3 Protein
PubMed: 38802976
DOI: 10.1186/s40001-024-01890-9 -
Plastic and Reconstructive Surgery.... May 2024Soft tissue reconstruction using flaps in managing mangled injuries is occasionally insufficient due to large defects and low flap viability. Conversely, delaying the...
Soft tissue reconstruction using flaps in managing mangled injuries is occasionally insufficient due to large defects and low flap viability. Conversely, delaying the closure of the defect can elevate the risk of infection. Adjuvant therapy becomes essential in the management of mangled injuries. We aim to present the use of low-cost vacuum-assisted closure (VAC) as an adjuvant therapy for mangled injuries. We reported the case of a 20-year-old man who sustained a mangled injury to his left forearm in a traffic accident 4 hours before admission. The mangled extremity severity score was 9; however, the patient declined amputation. Although the initial reconstruction was done, the flap could only cover vital structures. VAC was utilized to address the uncovered portion of the defect, to promote optimal granulation and prevent infection. The reconstruction proceeded with a skin graft and wrist arthrodesis. At 1-year follow-up, viable tissue was obtained but contracture occurred at the metacarpophalangeal and proximal interphalangeal joints. We intend to perform functional reconstruction at a later stage. Although the benefits of VAC in wound management are well established, reports regarding its advantages in mangled injury management remain relatively scarce. The high cost of VAC is a limiting factor, particularly in developing countries. This prompts the need for an affordable VAC innovation with comparable efficiency to the commercial model. Reverse Aqua Pump VAC, our innovative low-cost VAC, shows satisfactory outcomes in managing patients with mangled injuries with mangled extremity severity score indicating amputation.
PubMed: 38798936
DOI: 10.1097/GOX.0000000000005826 -
Plastic and Reconstructive Surgery.... May 2024This study aimed to demonstrate the clinical application of the dorsoproximal interphalangeal island flap as an alternative approach to skin graft or cross-finger flap...
BACKGROUND
This study aimed to demonstrate the clinical application of the dorsoproximal interphalangeal island flap as an alternative approach to skin graft or cross-finger flap to repair lesions at the ventral site at the proximal interphalangeal (PIP) finger joint.
METHODS
Fifteen patients received flaps (11 men and four women, n = 25 flaps). The repair of volar contracture in finger sequelae after burn injuries was the main indication. Five patients underwent two or more flaps during the same surgical session. The mean patient age was 18 years (range, 7-56 years). Most patients presented with palmar finger contractures of the PIP joint. In three patients, six flaps were rotated to the lateral radial and ulnar proximal surfaces of the finger to treat syndactyly.
RESULTS
Most flaps survived and provided satisfactory functional and aesthetic improvement of palmar scar contracture in the PIP region. Postoperative donor site follow-up was normal. The color and pliability of the skin are similar to those of the surrounding area. The follow-up period ranged from 6 months to 12 years.
CONCLUSIONS
Dorsoproximal interphalangeal island flaps are an option for repairing lesions that lack soft tissue and range in size from 10 × 15 to 12 × 18 mm at the volar site and around the PIP joint. The arch of rotation of this flap allows for lateral, ulnar, and radial rotations around the joint. The indication of six flaps in three patients to repair a proximal lack of tissue caused by syndactyly demonstrated its potential use in this anomaly.
PubMed: 38798926
DOI: 10.1097/GOX.0000000000005805