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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If only a few bones are involved, then little if any handicap is present, although the affected bones do have a higher rate of fracture. Case 3 Case 3. Dyschondroplasia Ollier disease Prevalence: Are you a health professional able to encondromatoais or dispense drugs? Lippincott Williams and Wilkins. Presence of unmineralized parts in the lesion should raise the suspicion for malignancy [ 3 ].

A diagnosis of multiple enchondromatosis olliers disease was made based on the morphology and location of bone lesions on plain radiographs. The magazine, referring to the Spanish-speaking pediatric, indexed in major international databases: Other search option s Alphabetical list. Malignant transformation is a major complication of enchondromatosis. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

Maffucci syndrome carries a higher risk for cancer. An informed consent was taken and plain x-rays of legs, feet, hands, forearms, hip with pelvis, and thoracolumbar spine were obtained. 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 Show all Show less.


More interestingly, it has been reported that the PTHrP parathyroid hormone-related protein receptor has encondromatozis implicated as a gene responsible for cases of enchondromatosis in patients with a family history of mild skeletal dysplasia in their male parents.

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

Raine syndrome Osteopoikilosis Osteopetrosis. Ollier disease is seen in both sexes without gender predilection and usually becomes apparent by early childhood 3,4. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. Zur Erblichkeit der Knochenchondromatose.

Unfortunately, it is not free to produce. Annals of Pediatrics is the Body of Scientific Expression of the Association and is the vehicle through which members communicate.

encondromatisis The authors thus suggested that the mutations occurred during development, resulting in genetic mosaicism in these individuals. CC HPO: European Journal of Radiology.

Case 4 Case 4.

Ollier disease

Of these 19, 15 were found to have the same mutation in each of their tumor samples that were examined. Review encondromwtosis the literature with an emphasis on the clinical behaviour, radiology, malignant transformation and the follow up.

Slagsvold and Larsen SRJ is a prestige metric based on the idea that not all citations are the same. X-ray showing enchondromas localized in the lower part of the radius of encondromatoeis year-old patient affected with Ollier disease. X-ray showing enchondromas localized in the humerus of a year-old patient affected with Ollier disease.

Open in a separate window. Thank you for updating your details. PTHR1 protein expression was studied using immunohistochemistry, revealing normal expression.

There was shortening of right leg which was noticed by the parents since 3 years of age. No other tests were performed apart from x-rays as it was not affordable for the patient and she did enondromatosis visit us for further follow up or treatment even though advised. C ] – Ovarian juvenile granulosa cell tumor with precocious pseudopuberty Radiology – Enchondromata Inheritance -?


Plain radiographs are sufficient for diagnosis. They can occur as solitary lesions or as multiple lesions in enchondromatosis. Specialised Social Services Eurordis directory. The enconromatosis of disease is highly variable and thus so is the degree of impairment. Lifelong monitoring is required in olliers patients given the risk of malignant transformation [ 6 ].

Author information Article notes Copyright and License information Disclaimer. Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.

We need long-term secure funding to provide you the information that you need at your fingertips. The patients become symptomatic usually in the first decade of life. Otro caso de discondrosteosis generalizada congenita, tipo Ollier. Osteochondrodysplasia Q77—Q78 Log in Sign up. This article has been cited by other articles in PMC. Achondroplasia Hypochondroplasia Thanatophoric dysplasia. With age, the cartilage may calcify in the typical “snowflake” pattern.

Enchondromas are common intraosseous tumours which are usually benign and develop in close proximity to ollidr plate cartilage. Abstract Olliers disease is a rare disease characterized by widespread enchondromas with a unilateral predominance, in early childhood.