Osteopoikilosis: Pain as a Presenting Symptom in Three Family Members
نویسندگان
چکیده
Osteopoikilosis is a rare asymptomatic sclerosing bony dysplasia of benign origin. It is usually found incidentally on radiological examinations. Familial occurrence indicates a genetic milieu with autosomal dominant pattern. Here, we present a case report of a young woman suffering from pelvic pain due to osteopoikilosis (OPK). The same disorder was later found in her son and daughter.
منابع مشابه
Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis
Osteopoikilosis is an autosomal dominant bone disorder characterized by symmetric multiple osteosclerotic lesions throughout the axial and appendicular skeleton. Pathogenic variants in the LEMD3 have been identified as the cause of osteopoikilosis. LEMD3 encodes an inner nuclear membrane protein that interacts with bone morphogenetic protein (BMP) and transforming growth factor (TGF)-β pathways...
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Osteopoikilosis (OPK) is a very rare and primarily benign autosomal dominant disorder of unknown etiology. Genetic studies showed heterozygous mutations of the LEMD3 gene. It is characterised by the occurrence of hyperostotic spots throughout the skeleton, with the most frequent localizations in the epiphyses and metaphyses of long bones, as well as in the carpal and tarsal bones. The clinical ...
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عنوان ژورنال:
دوره 4 شماره
صفحات -
تاریخ انتشار 2011