Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ollier's disease also known as enchondromatosis is a rare skeletal disorder that is usually sporadic, non-hereditary, and characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood with more obvious symptoms, such as deformities or improper limb growth. It carries high risk of skeletal, visceral and brain malignancy seen in approximately 25% of patients. Occurrence of Ollier's disease with myelodysplastic syndrome has never been reported in the literature. The different types of myelodysplastic syndromes are diagnosed based on certain changes in the blood cells and bone marrow characterized by one or more cytopenias despite a relatively hypercellular bone marrow. We hereby report the case of a 14 years boy who presented with painless finger swelling and hepatosplenomegaly. Radiological and bone marrow findings confirmed the diagnosis of Ollier's disease with Refractory Anemia and Excess Blasts (RAEB-1).
...
PMID:Ollier's Disease with Myelodysplastic Syndrome. 2645 95