Pyknodysostosis (Osteopetrosis Acro-Osteolytica)
نویسندگان
چکیده
منابع مشابه
A challenging paediatric pathological femur fracture in pyknodysostosis (osteopetrosis acro-osteolytica): lessons learnt.
To cite: Matar HE, James LA. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014207730 DESCRIPTION Pyknodysostosis, also known as osteopetrosis acro-osteolytica, is a rare autosomal-recessive bone dysplasia characterised by osteosclerosis and short stature. It involves mutations in the gene that encodes cathepsin K, a lysosomal metalloproteinase highly expressed ...
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lysis (bone resorption) has been observed in a heterogeneous group of congenital and acquired bone disorders. Leprosy is the main cause of peripheral neuropathy leading to acro-osteolysis in endemic countries. Pure neuritic leprosy, a less common form of the disease, is difficult to diagnose. Two unrelated leprosy patients with acropathy whose disease began as pure neuritic are discussed.
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ژورنال
عنوان ژورنال: AACE Clinical Case Reports
سال: 2020
ISSN: 2376-0605
DOI: 10.4158/accr-2020-0169