The Experts below are selected from a list of 240 Experts worldwide ranked by ideXlab platform
Antonella Tosti - One of the best experts on this subject based on the ideXlab platform.
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carpal tunnel syndrome presenting with ischemic skin lesions Acroosteolysis and nail changes
Journal of The American Academy of Dermatology, 1993Co-Authors: Antonella Tosti, R Morelli, Roberto Dalessandro, Francesco BassiAbstract:A 58-year-old woman had a chronic necrotic ulceration of the fingertip of the third finger and nail plate abnormalities of the first, second, and third fingers of the right hand. Roentgenograms of the hands showed Acroosteolysis of the distal phalanges of the second and third right fingers. Skin and nail lesions showed considerable improvement after surgical treatment of carpal tunnel syndrome. The authors review the clinical and radiologic features of similar cases that have previously been reported.
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occupational Acroosteolysis in a guitar player
Acta Dermato-venereologica, 1993Co-Authors: R Baran, Antonella TostiAbstract:: A case of occupational Acroosteolysis in a 24-year-old classical guitar player is reported. Nail tenderness was the only manifestation of initial Acroosteolysis, which was due to mechanical stress on the fingers. Radiographs showed initial resorption of the 2nd, 3rd and 4th finger of the left hand. The authors review the clinical and radiological features of Acroosteolysis. The pathogenesis of Acroosteolysis is discussed as well as the different diseases that may cause destructive changes of the distal phalangeal bones.
Francesco Bassi - One of the best experts on this subject based on the ideXlab platform.
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carpal tunnel syndrome presenting with ischemic skin lesions Acroosteolysis and nail changes
Journal of The American Academy of Dermatology, 1993Co-Authors: Antonella Tosti, R Morelli, Roberto Dalessandro, Francesco BassiAbstract:A 58-year-old woman had a chronic necrotic ulceration of the fingertip of the third finger and nail plate abnormalities of the first, second, and third fingers of the right hand. Roentgenograms of the hands showed Acroosteolysis of the distal phalanges of the second and third right fingers. Skin and nail lesions showed considerable improvement after surgical treatment of carpal tunnel syndrome. The authors review the clinical and radiologic features of similar cases that have previously been reported.
Yoon Sok Chung - One of the best experts on this subject based on the ideXlab platform.
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Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.
American journal of medical genetics. Part A, 2013Co-Authors: Yoko Narumi, Kenji Shimizu, Itsuro Kazukawa, Kiyoko Sameshima, Koichi Nakamura, Tomoki Kosho, Yumie Rhee, Yoon Sok ChungAbstract:It is debatable whether Hajdu-Cheney syndrome (HCS) and serpentine fibula-polycystic kidney syndrome (SFPKS) represent a single clinical entity with a variable degree of expression or two different entities, because both disorders share common clinical and radiological manifestations, including similar craniofacial characteristics, and defective bone mineralization. Since it was shown that heterozygous truncating mutations in NOTCH2 are responsible for both HCS and SFPKS, 37 patients with HCS and four patients with SFPKS are reported. To elucidate the clinical consequences of NOTCH2 mutations, we present detailed clinical information for seven patients with truncating mutations in exon 34 of NOTCH2, six with HCS and one with SFPKS. In addition, we review all the reported patients whose clinical manifestations are available. We found 13 manifestations including craniofacial features, Acroosteolysis, Wormian bones, and osteoporosis in >75% of NOTCH2-positive patients. Acroosteolysis was observed in two patients with SFPKS and bowing fibulae were found in two patients with HCS. These clinical and molecular data would support the notion that HCS and SFPKS are a single disorder.
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Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.
American Journal of Medical Genetics Part A, 2013Co-Authors: Yoko Narumi, Kenji Shimizu, Itsuro Kazukawa, Kiyoko Sameshima, Koichi Nakamura, Tomoki Kosho, Yumie Rhee, Yoon Sok ChungAbstract:It is debatable whether Hajdu–Cheney syndrome (HCS) and serpentine fibula-polycystic kidney syndrome (SFPKS) represent a single clinical entity with a variable degree of expression or two different entities, because both disorders share common clinical and radiological manifestations, including similar craniofacial characteristics, and defective bone mineralization. Since it was shown that heterozygous truncating mutations in NOTCH2 are responsible for both HCS and SFPKS, 37 patients with HCS and four patients with SFPKS are reported. To elucidate the clinical consequences of NOTCH2 mutations, we present detailed clinical information for seven patients with truncating mutations in exon 34 of NOTCH2, six with HCS and one with SFPKS. In addition, we review all the reported patients whose clinical manifestations are available. We found 13 manifestations including craniofacial features, Acroosteolysis, Wormian bones, and osteoporosis in >75% of NOTCH2-positive patients. Acroosteolysis was observed in two patients with SFPKS and bowing fibulae were found in two patients with HCS. These clinical and molecular data would support the notion that HCS and SFPKS are a single disorder. © 2013 Wiley Periodicals, Inc.
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A Case Report of Hajdu-Cheney Syndrome
Endocrinology and Metabolism, 2010Co-Authors: So Yeon An, Yun Jung Jung, Yoon Sok ChungAbstract:Hajdu-Cheney syndrome (HCS) is a rare skeletal dysplasia that is characterized by Acroosteolysis of the distal phalanges, distinctive craniofacial and skull changes, dental abnormalities and generalized osteoporosis. The clinical and radiologic characteristics are variable and these characteristics progress with age. This syndrome shows autosomal dominant inheritance with sporadic cases. The genetic defects or molecular pathogenesis of HCS are still unknown. We experienced a case of Hajdu-Cheney syndrome in a 20-year-old man who had generalized osteoporosis with multiple non-traumatic spine compression fractures. He had Acroosteolysis of the hands and feet, wormian bones in the skull, facial dysmorphism (mid-facial flattening, micrognathia and bushy eyebrows), a high arched palate, malocclusion and short dental alveolar processes. HCS was diagnosed based on the clinical and radiologic evidence. For the differential diagnosis, we excluded the other possible causes of the Acroosteolysis and wormian bones, including hyperparathyroidism, osteogenesis imperfecta, hypophosphatemia and mandibuloacral dysplasia. The specific treatment of HCS is unknown, but case reports with bisphosphonate treatment have been reported.
Alexandra Balbirgurman - One of the best experts on this subject based on the ideXlab platform.
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vitamin d parathyroid hormone and Acroosteolysis in systemic sclerosis
The Journal of Rheumatology, 2008Co-Authors: Yolanda Braunmoscovici, Daniel E Furst, Doron Markovits, Alexander Rozin, Philip J Clements, Abraham Menahem Nahir, Alexandra BalbirgurmanAbstract:Objective Sclerodactyly with Acroosteolysis (AO) and calcinosis are prominent features of systemic sclerosis (SSc), but the pathogenesis of these findings is poorly understood. Vitamin D and parathyroid hormone (PTH) have a crucial role in bone metabolism and resorption and may affect AO and calcinosis. We assessed vitamin D and PTH in patients with SSc. Methods Medical records of 134 consecutive patients with SSc (American College of Rheumatology criteria) followed at the rheumatology department during the years 2003–2006 were reviewed for clinical assessment, laboratory evaluation [including 25(OH) vitamin D, calcium, phosphorus, alkaline phosphatase, PTH, creatinine, and albumin]; imaging data confirming AO and/or calcinosis. Patients followed routinely at least once a year were included (81 patients). Of these, 60 patients’ medical records were found to have complete, relevant clinical, laboratory, and radiographic imaging. Results Thirteen patients had diffuse disease and 47 limited disease — 51 women and 9 men, 44 Jews and 16 Arabs; mean age 55 ± 14 years; disease duration 8 ± 6 years. AO with or without calcinosis was observed in 42 patients (70%). Vitamin D deficiency was found in 46% of patients (16 out of 44 Jewish patients, 10 out of 16 Arab patients). PTH was elevated in 21.7% of patients. Significant correlations were observed between Acroosteolysis and PTH (p = 0.015), calcinosis (p = 0.009), and disease duration (p = 0.008), and between PTH and vitamin D levels (p = 0.01). All patients had normal serum concentrations of calcium, phosphorus, magnesium, and albumin, and liver and kidney functions. Conclusion In this group of Mediterranean patients with SSc, the incidence of vitamin D deficiency and secondary hyperparathyroidism was surprisingly high. This finding correlated with the occurrence of AO and calcinosis. Low levels of vitamin D may reflect silent malabsorption and might be a risk factor for secondary hyperparathyroidism and bone resorption. Traditional dress habits and low exposure to sun may contribute to vitamin D deficiency in an Arab population but do not explain all the findings. The pathogenesis of these findings needs to be corroborated in other SSc populations.
C I Scott - One of the best experts on this subject based on the ideXlab platform.
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cervical instability as an unusual manifestation of hajdu cheney syndrome of Acroosteolysis
Clinical Orthopaedics and Related Research, 1990Co-Authors: D Herscovici, C I ScottAbstract:: Acroosteolysis is a disease that primarily affects distal areas of extremities, with osteolysis involving the phalanges of the hand most commonly reported. Some authors have noted Acroosteolysis to be acquired secondarily to the initiation of an immune complex disease that results in the vascular occlusion of the small arteries of the hand. Although the pathoetiology is unknown, the Hajdu-Cheney syndrome of idiopathic Acroosteolysis is distinct from the other forms because a generalized skeletal dysplasia is the most distinct feature, and it is usually not present in early childhood. The purpose of this study is to present an unusual case of cervical instability in a girl with Hajdu-Cheney syndrome. This case not only demonstrates that cervical osteolysis and Acroosteolysis can coexist and require primary surgical intervention but also that patients with these concurrent problems need to be monitored closely to identify any subsequent changes that may require secondary surgical stabilization.
