ollier’s syndrome, a variant of multiple enchondromatosis, is a rare disease with an estimated prevalence of 1/100,000, characterized by multiple enchondromas, asymmetrically involving small bones of the hands and feet, especially the proximal phalanges. intracranial enchondromas, such as those arising from the skull base are extremely rare. herein, we report a 25-year-old female, known case of...

Ollier disease (Spranger type I) is a rare bone disease that is characterized by multiple enchondromatosis with a typical asymmetrical distribution and confined to the appendicular skeleton. The pathogenesis of enchondromatosis is not clearly understood. Recently, heterozygous mutations of PTHR1, IDH1 (most common), and/or IDH2 genes have been suggested by various authors as genetic aberrations...

We describe a 5 years old girl who presented to the multidisciplinary skeletal dysplasia clinic following excision of two bony lumps from her fingers. Based on clinical examination, radiolographs and histological results an initial diagnosis of hereditary multiple exostosis (HME) was made. Four years later she developed further lumps which had the radiological appearance of enchondromas. The ap...

This paper describes a case of Ollier's disease, an uncommon, nonhereditary skeletal disorder affecting enchondral ossification. The patient was referred to our Rehabilitation Unit after resection of scapular chondroma. He had previously been submitted to several surgical treatments for multiple enchondromatosis. Rehabilitation goals were increasing range of motion, relieving pain and training ...

Eiken syndrome is a rare autosomal recessive skeletal dysplasia. We identified a truncation mutation in the C-terminal cytoplasmic tail of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) type 1 receptor (PTHR1) gene as the cause of this syndrome. Eiken syndrome differs from Jansen and Blomstrand chondrodysplasia and from enchondromatosis, which are all syndromes caused by PTHR1 mutati...