Schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphy-seal dysplasia. Mutations in SWI/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) gene are responsible for the disease. The present report describes, for the f...

schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphy-seal dysplasia. mutations in swi/snf2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (smarcal1) gene are responsible for the disease. the present report describes, for the first tim...

Fibro-osseous pseudotumor of the digit is rare benign lesion of subcutaneous tissue which is thought to be reactive process as a result of repeated trauma. We report a case of an ulcerated lesion of skin of middle finger, clinically thought to be leishmaniasis which after punch biopsy followed by excision turned out to be fibrosseous pseudotumor. Diagnosis of fibro-osseous pseudotumor requires ...

tricho-dento-osseous syndrome is a rare autosomal dominant disorder. immunosuppressive drugs, though critical to the treatment, have undesirable effects on patient's healing process. this is a case report of a 10-year-old female, suffering from tricho-dento-osseous syndrome who was under treatment with penicillamine. as the dental treatment was sought too late, both central and lateral incisors...

INTRODUCTION Benign Osseous metaplasia of the breast is rare, with only a few cases reported in the literature. Here we present a case of benign osseous metaplasia of the breast presenting as a breast lump. CASE PRESENTATION 38-year-old previously well woman presented with a one-year history of bilateral breast pain and a left-sided breast lump. Ultrasound and mammography suggested calcified ...

Familial Florid cemento-osseous dysplasia is a very uncommon condition. Cemento-osseous dysplasia is totally asymptomatic in many cases, in those conditions, lesions are detected in a radiograph taken for other purposes. In this report, we describe a family in which mother and daughter exhibited clinical, radiographic, and histologic features of florid cemento-osseous dysplasia.

In orthopaedic surgery, intra-operative bone machining and assembly of osseous fragments are two very important research areas. One of the most challenging applications is the treatment of malignant osseous tumors within the pelvis due to its complex tri-dimensional geometry. The conventional surgical procedure includes tumoral resection (cutting of the osseous tumor) and reconstruction by allo...

We report a 72-year-old woman with a type-1 intra-osseous ganglion in the proximal humerus, extending to the bone surface. We conducted a systemic review of intra-osseous ganglion cases in Japan to identify clinical features and pathogenesis of this condition. The anatomical distribution between intra-osseous ganglia without a communicating soft tissue ganglion (type 1) and those with (type 2) ...

Lingual osseous choristoma is an extremely rare condition, of which only 61 cases have been reported. Monserrat in 1913 was the first to report this bony lesion on the dorsum of the tongue and it was labelled as lingual osteoma, the term that normally describes neoplastic pathology. Krolls et al changed this term later to osseous choristoma, which means normal tissue in an abnormal location. Th...