ENCHONDROMATOSIS MULTIPLE PDF

This article has been cited by other articles in PMC. Ayear-old male patient, a product of a non-consanguineous marriage, presented to our outpatient clinic with a 5-month history of painless swelling of the fingers of both hands and a right-sided limp during the previous 2 months. The general physical examination was unremarkable except for swelling of the fingers. Routine lab investigations were normal. Radiographs showed radiolucent lesions of fingers, pelvis and lower end of the right femur, which were diagnosed as enchondromas. Enchondromas are benign cartilaginous tumors that develop in the metaphysis and may become in-corporated into the diaphysis in close proximity to the growth plate cartilage.

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They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma Schwartz et al. Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. Halal and Azouz added 3 tentative categories to the 6 in the classification of Spranger et al.

Pansuriya et al. The latter had had multiple enchondromas and subcutaneous hemangiomas since birth on both the arms and the legs.

A painful mass that had been growing in the region of the right elbow in recent months was found to be a chondrosarcoma. The patient underwent right shoulder disarticulation.

Kaplan et al. As in the case of multiple exostoses and neurofibromatosis type I, the frequency of malignancy may be exaggerated through bias; the patients in whom malignancy develops are, of course, more likely to come to medical attention. Lee et al. Because of mild anemia and occult blood in the stool, upper gastrointestinal endoscopy and sigmoidoscopy were carried out, which revealed hemangiomas in the hypopharynx and the ascending colon. Hemangiomas in such locations are rare in Maffucci syndrome.

From a review of the English literature since , they concluded that the incidence of chondrosarcoma in this disorder is This conclusion is suspect. The difficulties of stating the frequency of malignancy in von Recklinghausen neurofibromatosis and multiple exostoses from hospital records or reports is well known.

Immunohistochemistry revealed normal expression of the PTHR1 protein. Rozeman et al. Couvineau et al. No deleterious mutations were identified among the patients with Maffucci syndrome. Eight tumor samples had subthreshold peaks at the position in IDH1 expected to encode mutations resulting in RC or RH substitutions and mutations were confirmed in 7 of these tumors by the hydrolysis probe assay.

Mutations were absent in DNA isolated from the blood, muscle, or saliva of the subjects. Fourteen of 16 subjects had identical mutations in separate lesions. Amary et al. A large proportion Samples from multiple tumors range, ; mean, 2. Of these 19, 15 were found to have the same mutation in each of their tumor samples that were examined. One tumor in subject 21 harbored a mutation causing an RS substitution, whereas the second tumor had wildtype sequences.

However, 2 tumors with wildtype sequences from a subject with Maffucci syndrome had high levels of 2HG, and the third tumor with wildtype sequences, from a subject with multiple tumors subject 2 , had low levels of 2HG. Nature Genet. Acta Chir. PTHR1 mutations associated with Ollier disease result in receptor loss of function. Generalized enchondromatosis in a boy with only platyspondyly in the father. Letter Brit. Enchondromatosis: insights on the different subtypes.

The malignant potential of enchondromatosis. Bone Joint Surg. Two peculiar types of enchondromatosis.

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Enchondromatosis

Corresponding author. E-mail: moc. Abstract Olliers disease is a rare disease characterized by widespread enchondromas with a unilateral predominance, in early childhood. The diagnosis is based on clinical and conventional radiological evaluations. The prognosis for olliers disease is difficult to assess. Enchondromas in olliers disease present a risk of malignant transformation into chondrosarcomas. Due to its rarity literature focusing on olliers disease is limited.

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Ollier disease

Description Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous benign growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine vertebrae. Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures. The signs and symptoms of Ollier disease may be detectable at birth, although they generally do not become apparent until around the age of 5. Enchondromas develop near the ends of bones , where normal growth occurs, and they frequently stop forming after affected individuals stop growing in early adulthood.

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Multiple enchondromatosis (Ollier disease)

Imaging differential diagnosis Terminology Some authors make a distinction between Ollier disease and enchondromatosis on the basis of distribution. In the original description of Ollier disease, the enchondromas were predominantly confined to one side and limited to the limbs. As such, some authors prefer to use the term Ollier disease in cases where this distribution is present and use enchondromatosis or multiple enchondromatosis for cases where the distribution is more symmetric 5. Epidemiology Ollier disease is seen in both sexes without gender predilection and usually becomes apparent by early childhood 3,4,.

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