Download Citation on ResearchGate | Encondromatosis múltiple, enfermedad de Ollier | Multiple enchondromatosis (Ollier’s disease) is a rare disease. PDF | Ollier disease (Spranger type I) is a rare bone disease that is characterized by multiple Encondromatosis múltiple, enfermedad de Ollier. Article. Enchondromatosis, also known as Ollier disease (see Terminology section), is a non-hereditary, sporadic, skeletal disorder characterised by multiple.

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Int J Clin Exp Pathol.


Unfortunately, it is not free to produce. J Bone Joint Surg Am. C ] – Ovarian juvenile granulosa cell tumor with precocious pseudopuberty Radiology – Enchondromata Inheritance -? Plain radiographs are sufficient for diagnosis. The receptor constitutively activated hedgehog signaling, and excessive hedgehog signaling was sufficient to cause formation of the enchondroma-like lesions.

Javier Tejada Gallego a. Please consider making a donation now and again in the future. There are a few instances of familial occurrence. Lolier inheritance with reduced penetrance is possible.

Orphanet Journal of Rare Diseases. Surgical intervention is necessary in case of pathological fractures, growth defect and malignant transformation [ 1 ]. Generalized enchondromatosis in a boy with only platyspondyly in the father.

The characteristic x-ray finding include multiple, radiolucent, homogenous oval or elongated lesions with a well defined slightly thickened bony margin [ 3 ]. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. This case report discusses the case of a year-old female who presented with difficulty in walking, leg pain and multiple painless swellings in hands and legs for a period of 2 years.

Health care resources for this disease Expert centres Diagnostic tests 14 Patient organisations 50 Orphan drug s 0. The father was short of stature and had only moderate platyspondyly. Infobox medical condition new Articles to be expanded from Encondroomatosis All articles to be expanded Articles with empty sections from August All articles with empty sections Articles using small message boxes.


When malignancy is suspected, the histopathology investigation is used for grading because encobdromatosis grade requires different management [ 2 ]. Radiographs show multiple enchondromas.

On examination, multiple discrete, hard swellings were palpable in both legs and hands. Synonyms or Alternate Spellings: Zur Erblichkeit der Knochenchondromatose. Case Report A year-old female patient presented to our hospital with difficulty in walking, leg pain and multiple swellings in enconvromatosis and leg for enconfromatosis years.

Case 6 Case 6. MRI showing enchondromas localized in the lower part of the radius of a year-old patient affected with Ollier disease. Case 8 Case 8. The 2 affected individuals were unrelated males with mild to moderate disease severity. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. An informed consent was taken and plain x-rays of legs, feet, hands, forearms, hip with pelvis, and thoracolumbar spine were obtained.

Find articles by V. In enchondromas and chondrosarcomas from 31 enchondromatosis patients Ollier disease or Maffucci syndrome, lacking platyspondyly from 3 different European countries, Rozeman et al.

X-ray image showing enchondromas localized in the lower part of the radius of a 7-year-old girl with Ollier disease. Mutations were absent in DNA isolated from the blood, muscle, or saliva of the subjects. Case 9 Case 9. Published online Jan 1.

Encondromatosis múltiple, enfermedad de Ollier | Anales de Pediatría (English Edition)

You can help by adding to it. Maffucci syndrome carries a higher risk for cancer. Orphanet J Rare Dis.


For all other comments, please send your remarks via contact us. Unable to process the form. Professionals Summary information Greekpdf Review article English However, a differential of hereditary exostosis needs to be ruled out.

A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. National Center for Biotechnology InformationU. Vaz and Turner described a case of Ollier disease associated enconxromatosis ovarian juvenile granulosa cell tumor encondroomatosis precocious pseudopuberty.

Most patients have bilateral involvement but often significant asymmetry 4.

The prevalence of this disease is 1 inDue to its rarity literature focusing on olliers disease is limited. Presence of unmineralized parts in the encondromatosks should raise the suspicion for malignancy [ 3 ]. On radiographs, streaks of low density are seen projecting through the diaphyses into the epiphyses of the long bones, due to ectopic cartilage deposits.

In 1 of these men, the RC mutation was carried in the germline and was inherited from the father, who had mild skeletal dysplasia but no evidence of enchondromas, similar to the findings in the father and son reported by Halal and Azouz Lifelong monitoring is required in olliers patients given the risk of malignant transformation [ 6 ].

Halal and Azouz reported the case of a boy who had platyspondyly and metaphyseal manifestations of enchondromatosis with severe involvement of the encondromatossis and feet compatible encpndromatosis generalized enchondromatosis, or Spranger type VI enchondromatosis. Summary and related texts.