Acroosteolysis - Explore the Science & Experts | ideXlab

Scan Science and Technology

Contact Leading Edge Experts & Companies

Acroosteolysis

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.

  • carpal tunnel syndrome presenting with ischemic skin lesions Acroosteolysis and nail changes
    Journal of The American Academy of Dermatology, 1993
    Co-Authors: Antonella Tosti, R Morelli, Roberto Dalessandro, Francesco Bassi

    Abstract:

    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.

  • occupational Acroosteolysis in a guitar player
    Acta Dermato-venereologica, 1993
    Co-Authors: R Baran, Antonella Tosti

    Abstract:

    : 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.

  • carpal tunnel syndrome presenting with ischemic skin lesions Acroosteolysis and nail changes
    Journal of The American Academy of Dermatology, 1993
    Co-Authors: Antonella Tosti, R Morelli, Roberto Dalessandro, Francesco Bassi

    Abstract:

    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.

  • 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, 2013
    Co-Authors: Yoko Narumi, Kenji Shimizu, Itsuro Kazukawa, Kiyoko Sameshima, Koichi Nakamura, Tomoki Kosho, Yumie Rhee, Yoon Sok Chung

    Abstract:

    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.

  • 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, 2013
    Co-Authors: Yoko Narumi, Kenji Shimizu, Itsuro Kazukawa, Kiyoko Sameshima, Koichi Nakamura, Tomoki Kosho, Yumie Rhee, Yoon Sok Chung

    Abstract:

    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.

  • A Case Report of Hajdu-Cheney Syndrome
    Endocrinology and Metabolism, 2010
    Co-Authors: So Yeon An, Yun Jung Jung, Yoon Sok Chung

    Abstract:

    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.