Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?
نویسندگان
چکیده
منابع مشابه
Progressive osseous heteroplasia. Report of a family.
We report a case of progressive osseous heteroplasia in a female infant who had progressive ossification of the skin and deep connective tissues. Isolated dermal ossification is present in her father and younger sister suggesting an autosomal dominant mode of inheritance with variable expressivity or possible somatic mosaicism. This report of a family with progressive osseous heteroplasia contr...
متن کاملProgressive osseous heteroplasia: diagnosis, treatment, and prognosis
Progressive osseous heteroplasia (POH) is an ultrarare genetic condition of progressive ectopic ossification. Most cases of POH are caused by heterozygous inactivating mutations of GNAS, the gene encoding the alpha subunit of the G-stimulatory protein of adenylyl cyclase. POH is part of a spectrum of related genetic disorders, including Albright hereditary osteodystrophy, pseudohypoparathyroidi...
متن کاملProgressive osseous heteroplasia: a rare case of late onset.
1 Gluck T. Vaccinate your immunocompromised patients! Rheumatology 2006;45:9–10. 2 BSR National guidelines for the monitoring of second line drugs. London: British Society for Rheumatology, 2000. 3 Summary of Flu immunisation policy – Department of health. http://www.dh.gov.uk/ PolicyAndGuidance/HealthAndSocialCareTopics/Flu. 4 Bridges MJ, Coady D, Kelly CA et al. Factors influencing uptake of ...
متن کاملTotal Ankylosis of the Upper Left Limb: A Case of Progressive Osseous Heteroplasia
Progressive osseous heteroplasia is a rare inherited disease that begins with skin ossification and proceeds into the deeper connective tissues. The disease should be distinguished from other genetic disorders of heterotopic ossification including fibrodysplasia ossificans progressiva (FOP) and Albright hereditary osteodystrophy (AHO). We report a case of progressive osseous heteroplasia in a...
متن کاملProgressive osseous heteroplasia-like heterotopic ossification in a male infant with pseudohypoparathyroidism type Ia: a case report.
UNLABELLED Pseudohypoparathyroidism (PHP) Ia is a rare condition associated with multiple hormone resistance and the Albright Hereditary Osteodystrophy (AHO) phenotype. Progressive osseous heteroplasia (POH) is characterized by progressive ossifications of dermal, skeletal muscle and deep connective tissue during childhood. Both PHP Ia and POH are caused by heterozygous inactivating mutations i...
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ژورنال
عنوان ژورنال: Endocrine
سال: 2020
ISSN: 1355-008X,1559-0100
DOI: 10.1007/s12020-020-02533-9