Polyfibromatosis syndrome is a rare disease entity that is characterized by various clinical features such as palmar, plantar, and penile fibromatoses, keloid formations of the skin, and erosive arthropathy. Its precise pathophysiology or etiology remains unclear. In addition to distinctive diverse skin manifestations, patients with polyfibromatosis have been previously reported to show erosive arthropathy with significant limitation of movement at affected joints. However, the presence of erosive polyarthropathy in polyfibromatosis has not emphasized in previous cases. Here, we report a case of polyfibromatosis syndrome combined with painless massive structural destruction of hand and foot joints, and review the characteristics of erosive arthropathy in previous cases.
Adult ; Arthrography ; Diagnosis, Differential ; Fibroma/*diagnosis/pathology/radiography ; Foot Joints/pathology/radiography ; Hand Joints/pathology/*radiography ; Humans ; Magnetic Resonance Imaging ; Male ; Metacarpophalangeal Joint/pathology/radiography ; Osteolysis/*diagnosis/etiology

OBJECTIVE: To assess the feasibility of visualizing hand and foot tendon anatomy and disorders by Gemstone Spectral Imaging (GSI) high-definition CT (HDCT). MATERIALS AND METHODS: Thirty-five patients who suffered from hand or foot pain were scanned with GSI mode HDCT and MRI. Spectrum analysis was used to select the monochromatic images that provide the optimal contrast-to-noise ratio (CNR) for tendons. The image quality at the best selected monochromatic level and the conventional polychromatic images were compared. Tendon anatomy and disease were also analyzed at GSI and MRI. RESULTS: The monochromatic images at about 65 keV (mean 65.09 +/- 2.98) provided the optimal CNR for hand and foot tendons. The image quality at the optimal selected monochromatic level was superior to conventional polychromatic images (p = 0.005, p < 0.05). GSI was useful in visualizing hand and foot tendon anatomy and disorders. There were no statistical differences between GSI and MRI with regard to tendon thickening (chi2 = 0, p > 0.05), compression (chi2 = 0.5, p > 0.05), absence (chi2 = 0, p > 0.05) and rupture (chi2 = 0, p > 0.05). GSI was significantly less sensitive than MRI in displaying tendon adhesion (chi2 = 4.17, p < 0.05), degeneration (chi2 = 4.17, p < 0.05), and tendinous sheath disease (chi2 = 10.08, p < 0.05). CONCLUSION: GSI with monochromatic images at 65 keV displays clearly the most hand and foot tendon anatomy and disorders with image quality improved, as compared with conventional polychromatic images. It may be used solely or combined with MRI in clinical work, depending on individual patient disease condition.
Adolescent ; Adult ; Female ; Foot/pathology/*radiography ; Hand/pathology/*radiography ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Musculoskeletal Diseases/diagnosis/radiography ; *Radiographic Image Enhancement ; Tendon Injuries/diagnosis/*radiography ; Tendons/pathology/*radiography ; Tomography, X-Ray Computed/*methods ; Young Adult

Arthritis, Gouty ; diagnostic imaging ; pathology ; surgery ; Foot Joints ; diagnostic imaging ; pathology ; surgery ; Hand Joints ; diagnostic imaging ; pathology ; surgery ; Humans ; Male ; Middle Aged ; Radiography

Melorheostosis is a rare, progressive bone disease accompanied by hyperostosis and soft tissue fibrosis. While affected adults present with contracture and pain, children present with limb length discrepancy and deformity. We report the case of a 20-year-old woman with melorheostosis since childhood who presented with right hand deformity and numbness. Radiographs showed not only a combination of dense sclerosis and opacities, but also the classic 'flowing candle wax' appearance. Radiography can be used to identify melorheostosis, thus preventing unnecessary bone biopsies. Carpal tunnel release revealed the presence of a thickened flexor retinaculum and a degenerated median nerve distal to the retinaculum, but did not show hyperostosis. This case highlights the role of nerve decompression in melorheostosis and the importance of early identification of the disease to prevent unnecessary bone biopsies.
Carpal Tunnel Syndrome ; complications ; diagnostic imaging ; surgery ; Diagnosis, Differential ; Female ; Fibrosis ; pathology ; Hand ; pathology ; Hand Deformities ; diagnostic imaging ; surgery ; Humans ; Hypesthesia ; Median Nerve ; surgery ; Melorheostosis ; complications ; diagnostic imaging ; surgery ; Radiography ; Sclerosis ; diagnostic imaging ; Young Adult

We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was done at 28() weeks gestational age due to oligohydramnios detected by antenatal ultrasonography. Chromosomal study revealed normal karyotype. On autopsy, characteristic transverse terminal defect of four extremities was found. Both feet were short and broad. All toes were rudimentary with no nails and fingers were irregularly short. On infantogram, all toe-bones were stubby and rudimentary. The middle and terminal phalanges of 2nd, 3rd +ACY- 5th fingers and the terminal phalange of 4th finger on the right hand were absent. The middle and terminal phalanges of 2nd +ACY- 5th fingers and terminal phalange of 3rd finger were defected on the left hand. His abnormalities were consistent with features of Adams-Oliver syndrome, which has not been reported in Korea.
Abnormalities, Multiple/pathology+ACo- ; Abnormalities, Multiple/embryology ; Abortion, Habitual ; Abortion, Therapeutic ; Adult ; Autopsy ; Case Report ; Female ; Fetal Diseases/pathology+ACo- ; Foot Deformities, Congenital/radiography ; Foot Deformities, Congenital/pathology+ACo- ; Foot Deformities, Congenital/embryology ; Genes, Dominant ; Hand Deformities, Congenital/radiography ; Hand Deformities, Congenital/pathology+ACo- ; Hand Deformities, Congenital/embryology ; Human ; Male ; Oligohydramnios ; Pregnancy ; Scalp/embryology ; Scalp/abnormalities+ACo- ; Skin Abnormalities/pathology+ACo- ; Skin Abnormalities/embryology ; Syndrome

We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was done at 28() weeks gestational age due to oligohydramnios detected by antenatal ultrasonography. Chromosomal study revealed normal karyotype. On autopsy, characteristic transverse terminal defect of four extremities was found. Both feet were short and broad. All toes were rudimentary with no nails and fingers were irregularly short. On infantogram, all toe-bones were stubby and rudimentary. The middle and terminal phalanges of 2nd, 3rd +ACY- 5th fingers and the terminal phalange of 4th finger on the right hand were absent. The middle and terminal phalanges of 2nd +ACY- 5th fingers and terminal phalange of 3rd finger were defected on the left hand. His abnormalities were consistent with features of Adams-Oliver syndrome, which has not been reported in Korea.
Abnormalities, Multiple/pathology+ACo- ; Abnormalities, Multiple/embryology ; Abortion, Habitual ; Abortion, Therapeutic ; Adult ; Autopsy ; Case Report ; Female ; Fetal Diseases/pathology+ACo- ; Foot Deformities, Congenital/radiography ; Foot Deformities, Congenital/pathology+ACo- ; Foot Deformities, Congenital/embryology ; Genes, Dominant ; Hand Deformities, Congenital/radiography ; Hand Deformities, Congenital/pathology+ACo- ; Hand Deformities, Congenital/embryology ; Human ; Male ; Oligohydramnios ; Pregnancy ; Scalp/embryology ; Scalp/abnormalities+ACo- ; Skin Abnormalities/pathology+ACo- ; Skin Abnormalities/embryology ; Syndrome

PURPOSE: There has been few published on arthroscopy of metacarpophalangeal joint (MCPJ) despite increasingly being used worldwide. The purpose of this study was to investigate the effectiveness of arthroscopy for pathologies around MCPJ of the thumb. METHODS: Between September 2007 and June 2015, 56 patients (56 thumb) who underwent arthroscopy of the MCPJ were retrospectively studied. Preoperative diagnoses, which were made through physical examination, plain radiograph, stress radiography, ultrasound, and magnetic resonance images (MRI), were compared with arthroscopic findings. Therapeutic arthroscopic surgeries were performed according to the needs of each patient. Functional outcomes were assessed with physical examination as well as disabilities of the arm, shoulder and hand (DASH) score and Michigan Hand outcomes Questionnaire (MHQ) score at an average 7.3 months follow-up. RESULTS: Six patients who suspected with collateral ligament injuries in MRI confirmed different diagnoses under arthroscopy. At final follow-up, the mean range of flexion contracture of the MCPJ was 5°, and the mean range of further flexion was 52.7°. Grip and pinch strength averaged 87.2% and 79.3% of contralateral side. Mean DASH and MHQ score were improved from 48.1 and 44.6, preoperatively to 14.9 and 26.3, postoperatively (p<0.001, p=0.012, respectively). All patients were satisfied with their outcomes at final follow-up, except 4 patients who noted joint stiffness or chronic pain around the thumb. CONCLUSION: Our results revealed that arthroscopy is helpful for both diagnostic and therapeutic purposes of acute and chronic painful MCPJ of the thumb. However, further studies are needed to expand the applications of arthroscopy of MCPJ of the thumb.
Arm ; Arthroscopy* ; Chronic Pain* ; Collateral Ligaments ; Contracture ; Diagnosis ; Follow-Up Studies ; Hand ; Hand Strength ; Humans ; Joints ; Magnetic Resonance Imaging ; Metacarpophalangeal Joint* ; Michigan ; Pathology ; Physical Examination ; Pinch Strength ; Radiography ; Retrospective Studies ; Shoulder ; Thumb* ; Ultrasonography