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

No abstract available.
Aged ; Arthritis, Rheumatoid/*diagnosis/pathology ; Female ; Foot Deformities, Acquired/*diagnosis/pathology ; Humans ; Metatarsophalangeal Joint/*pathology/radiography ; Tomography, X-Ray Computed

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

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

Variceal bleeding and hepatorenal syndrome (HRS) are serious and life-threatening complications of advanced liver disease. Terlipressin is widely used to manage both acute variceal bleeding and HRS due to its potency and long duration of action. The most severe (though rare) adverse event is ischemia. The present report describes the case of a patient with gangrene and osteomyelitis secondary to terlipressin therapy. A 71-year-old male with alcoholic liver cirrhosis (Child-Pugh B) and chronic hepatitis C was admitted due to a drowsy mental status. The patient had several experiences of orthopedic surgery. His creatinine level had gradually elevated to 4.02 mg/dL, and his urine output decreased to 500 mL/24 hr. The patient was diagnosed as having grade III hepatic encephalopathy (HE) and type II HRS. Terlipressin and albumin were administered intravenously to treat the HRS over 11 days. Although he recovered from the HE and HRS, the patient developed peripheral gangrene and osteomyelitis in both feet. His right toes were cured with the aid of rescue therapy, but his left three toes had to be amputated. Peripheral gangrene and osteomyelitis secondary to terlipressin therapy occur only rarely, and there is no specific rescue therapy for these conditions. Thus, attention should be paid to the possibility of ischemia of the skin and bone during or after terlipressin therapy.
Aged ; Creatinine/blood ; Foot/pathology ; Gangrene/*etiology ; Hepatitis C, Chronic/complications ; Humans ; Liver Cirrhosis/complications/diagnosis ; Liver Diseases/*diagnosis/drug therapy ; Lypressin/adverse effects/*analogs & derivatives/therapeutic use ; Male ; Osteomyelitis/*etiology ; Severity of Illness Index ; Toe Phalanges/radiography ; Vasoconstrictor Agents/*adverse effects/therapeutic use