exophthalmos/phosphatase

Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare autosomal dominant bone disease, which is caused by mutations in the transforming growth factor‑β1 (TGFβ1) gene on chromosome 19q13.1‑13.3. Extremely variable penetrance has been reported to be associated

A 72-year-old man was admitted to our hospital complaining of diplopia and right exophthalmos. Craniography and CT scan showed thickening of the right orbital roof and no intracranial lesion. Total acid phosphatase and prostatic acid phosphatase were high. Bone scintigraphy revealed high uptake at

Graves' disease (GD) may display uncommon manifestations. We report a patient with rare complications of GD and present a comprehensive literature review. A 35-year-old woman presented with a two-week history of dyspnea, palpitations, and edema. She had a raised jugular venous pressure, goiter, and

Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) share similar clinical features and mechanisms. In very rare circumstances, the two diseases coexist in the same patient. Here we report such a patient, who was first diagnosed with Hand-Schüller-Christian disease (HSC), a type of

A 66-year-old man presented with progressive proptosis of the left eye associated with ocular pain. A computed tomographic scan showed a high density mass in the posterolateral portion of the left orbit. The patient underwent surgical removal of the tumor and histopathological examination revealed

An 83-year-old man with a history of localized prostate carcinoma treated 16 years prior with transurethral partial prostatectomy and radioactive seed implants presented with a 2-month history of right globe proptosis. Computed tomography demonstrated a right medial rectus mass. Serum prostate

Acromegaly results from the overproduction of growth hormone in adulthood and is characterised by overgrowth of soft tissue and/or bone as well as insulin resistance. There are few data indicating the risk factors associated with this disease in dogs or its clinicopathological features and sequelae.

Pycnodysostosis is a rare hereditary bone abnormality with an autosomal recessive mode of inheritance. We report the clinical, radiologic, and endocrine status of 8 children with this rare disease. All patients had the characteristic phenotype of the disorder including short stature (8 of 8),