Correction of Orbital Deformity in Camurati-Engelmann Disease with PEEK Lateral Wall Implants

Camurati-Engelmann Disease is a rare congenital sclerosing bone dysplasia condition. Affected patients manifest bony abnormalities including thickening of the skull base and orbital bones. The resulting orbital volume reduction associated with this condition can cause exophthalmos, distorting the facial profile. The authors report a 33-year-old man with a diagnosis of Camurati-Engelmann Disease exhibiting exophthalmos who was successfully treated with the insertion of bilateral lateral orbital wall patient specific PEEK implants via a bi-coronal flap approach. This case highlights the novel application of modern cutting-edge technology in the treatment of proptosis in Camurati-Engelmann Disease.

An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia

Context The WNT/β-catenin pathway is central to the pathogenesis of various human diseases including those affecting bone development and tumor progression. Objective To evaluate the role of a gain-of-function variant in CTNNB1 in a child with a sclerosing bone dysplasia and an adrenocortical adenoma. Design Whole exome sequencing with corroborative biochemical analyses. Patients We recruited a child with a sclerosing bone dysplasia and an adrenocortical adenoma together with her unaffected parents. Intervention Whole exome sequencing and performance of immunoblotting and luciferase-based assays to assess the cellular consequences of a de novo variant in CTNNB1. Main Outcome Measure(s)/Result A de novo variant in CTNNB1 (c.131C>T; p.[Pro44Leu]) was identified in a patient with a sclerosing bone dysplasia and an adrenocortical adenoma. A luciferase-based transcriptional assay of WNT signaling activity verified that the activity of β-catenin was increased in the cells transfected with a CTNNB1p.Pro44Leu construct (P = 4.00 × 10–5). The β-catenin p.Pro44Leu variant was also associated with a decrease in phosphorylation at Ser45 and Ser33/Ser37/Thr41 in comparison to a wild-type (WT) CTNNB1 construct (P = 2.16 × 10–3, P = 9.34 × 10–8 respectively). Conclusion Increased β-catenin activity associated with a de novo gain-of-function CTNNB1 variant is associated with osteosclerotic phenotype and adrenocortical neoplasia.

Sclerosteosis: A Rare, Sclerosing Bone Dysplasia in a Bangladeshi Male

We report a 26-year-old male who was initially diagnosed as osteopetrosis and referred for endocrine evaluations. But due to specific clinical features supported by investigations, we diagnosed the case as sclerosteosis. The patient was managed by a multidisciplinary team approach. Sclerosteosis may be erroneously diagnosed as osteopetrosis. However, many unique features make it a separate entity.

Localised melorheostosis

<p class="abstract"><span lang="EN-IN">Melorheostosis is a sclerosing bone dysplasia of unknown aetiology. Diagnosis is mainly based on a combination of clinical and imaging studies. The classical dripping candle wax picture on plain radiograph is diagnostic. We report a case of localized melorheostosis of a 14 year old boy on daily analgesics for two years for pain relief. Radiographs showed endosteal bone formation like dripping candle wax. Biopsy and decompression of the hyperostosis was done. However biopsy did not relieve his symptoms. Based on literature survey he was given a single infusion of zoledronic acid. This gave dramatic relief in pain.</span></p>