Buschke-Ollendorff syndrome presenting as a painful nodule

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Buschke-Ollendorff syndrome presenting as a painful nodule

BOS: Buschke-Ollendorff syndrome INTRODUCTION First reported in 1928, Buschke-Ollendorff syndrome (BOS) is an autosomal dominant genodermatosis with high penetrance and variable expressivity. It is characterized by skin-colored or yellow smooth papules, plaques, and nodules up to 2 cm consisting of elastomas or collagenomas, known as dermatofibrosis lenticularis disseminata. This syndrome also ...

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Buschke-Ollendorff syndrome accidentally diagnosed after a left ankle sprain.

A 9-year-old girl was referred to our clinic for evaluation of a spherical sclerotic bone lesion in the distal metaphysis of the left tibia (Figure 1A). The lesion was accidentally found after a routine radiograph for a minor left ankle injury she sustained a week earlier. Physical examination revealed multiple, asymptomatic, symmetrically located skin lesions on either side of the lower back a...

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Localized subacute thyroiditis presenting as a painful hot nodule

BACKGROUND A diagnosis of subacute thyroiditis is readily considered when patients present with a particular set of typical clinical characteristics. Subacute thyroiditis sometimes presents as a solitary cold nodule; however, the presence of a hot nodule in patients with subacute thyroiditis is exceedingly rare. CASE PRESENTATION Here, the case of a 57-year-old woman complaining of pain in th...

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Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.

BACKGROUND Buschke-Ollendorff syndrome (BOS), an autosomal dominant disorder, features small, acquired, asymptomatic, symmetrical foci of osteosclerosis detected radiographically in epimetaphyseal bone (osteopoikilosis) (OPK) together with connective tissue nevi or juvenile elastomas. Heterozygous, loss-of-function, germline mutation in the LEMD3 gene (which encodes an inner nuclear membrane pr...

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ژورنال

عنوان ژورنال: JAAD Case Reports

سال: 2015

ISSN: 2352-5126

DOI: 10.1016/j.jdcr.2015.01.004