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11 results
Multiple miliary osteoma cutis of the face associated with Albright hereditary osteodystrophy in the setting of acne vulgaris: a case report.
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Osteoma cutis is a condition characterized by theformation of bone within the skin. Such aberrantossification of the skin and subcutaneous tissue isconsidered primary when it arises in the absence ofunderlying tissue damage or a preceding cutaneouslesion. Conversely, secondary osteoma cutis
A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis.
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Various inactivating mutations in guanine nucleotide-binding protein, alpha-stimulating activity polypeptide1 (GNAS1) gene have been described with poor phenotype correlation. Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene. Hormone resistance occurs
Osteoma cutis as the presenting feature of albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism.
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Primary osteoma cutis is characterized by the formation of normal bone tissue in the dermis or subcutis without any underlying tissue abnormality or pre-existing calcification. This illness is associated with Albright hereditary osteodystrophy (AHO), which is characterized by such physical features
[Albright's hereditary osteodystrophy with multiple cutaneous osteomas].
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Hereditary osteodystrophy of Albright's is a set of hereditary dystrophies associated or not with renal and bony resistance to the parathyroid hormone. Two observations of a true brotherhood are reported. These two patients had in common: short stature, obesity (especially facio-troncular), round
Multifocal osteoma cutis in a golden retriever.
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A 10-year-old, spayed female, obese golden retriever, presented for immune-mediated thrombocytopenia, was successfully managed with the administration of vincristine and prednisone. However, 6 mo after discontinuing corticosteroid therapy because of suspected iatrogenic hyperglucocorticoidism, the
[Cutaneous osteoma and Albright's hereditary osteodystrophy].
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Albright's hereditary osteodystrophy has been diagnosed in a 35-year-old woman who presented recurrent cutaneous ossifications of the auricular area. The patient exhibited other cutaneous ossifications, a short stature with obesity, round face, stocky hands and feet, radiological calcifications of
Albright hereditary osteodystrophy.
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Albright hereditary osteodystrophy with pseudohypoparathyroidism is due to maternal loss-of-function mutations in the GNAS gene. Its typical clinical features encompass obesity, a round face and a short neck, osteoma of the skin, endocrinological abnormalities, and psychomotoric retardation. Here we
Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia.
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Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A
[Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia].
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Albright hereditary osteodystrophy (AHO) is characterized by a symptom complex including short stature, brachymetacarpia, obesity, round facies, cutaneous osteomas, and mental retardation. AHO is caused by mutations in the GNAS-gene localized on chromosome 20 encoding for Gsalpha protein, a signal
Ossification of the ligamentum flavum in the thoracolumbar spine of young adults report of two cases.
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Ossification of the ligamentum flavum in the thoracolumbar spine is rare in young adults. We report two cases in 22 year old males who required surgical treatment. The first patient was obese and hyperinsulinaemic. He had a compression myelopathy below T11 due to extensive posterior ossification.
Osteosclerosis due to endemic fluorosis.
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Endemic water borne fluorosis is a public health problem in Isparta, a city located in southern Turkey. In order to investigate the association between osteosclerosis and fluorosis, we retrospectively screened the results of lumbar spine and femur neck bone mineral density (BMD) of 1500 patients who
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