Osteopoikilosis: report of a familial case.
نویسندگان
چکیده
We describe four members of a family in which the clinical and radiological findings lead to consider the diagnosis of osteopoikilosis. The symptoms in all affected members were only those referred to as typical radiological features; these features became more extensive with older age. None of the subjects showed the skin lesions reported in the Buschke-Ollendorff syndrome. The importance of a suitable differential diagnosis is emphasized in order to avoid dangerous and unnecessary treatments.
منابع مشابه
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant
Introduction. Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which encodes the inner nuclear membrane protein Man1. We describe a unique case of osteopoikilosis associated with late-onset localized scleroderma...
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Osteopoikilosis (OP) is a very rare benign sclerosing bony dysplasia with an autosomal dominant inheritance. We describe the morphology of an osteopoikilosis male patient, associated with severe pain on wrist and hand joints, report on the relative literature and focus on clinical significance, due to mimicking capability of other more severe conditions such as bone metastases.
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عنوان ژورنال:
- Genetic counseling
دوره 5 4 شماره
صفحات -
تاریخ انتشار 1994