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PubMed2004

Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.

Enchondromatosis (Ollier disease, Maffucci syndrome) is a rare developmental disorder characterized by multiple enchondromas. Not much is known about its molecular genetic background. Recently, an activating mutation in the parathyroid hormone receptor type 1 (PTHR1) gene, c.448C>T (p.R150C), was reported in two of six patients with enchondromatosis. The mutation is thought to result in upregulation of the IHH/PTHrP pathway. This is in contrast to previous studies, showing downregulation of this pathway in other cartilaginous tumors. Therefore, we investigated PTHR1 in enchondromas and chondrosarcomas from 31 enchondromatosis patients from three different European countries, thereby excluding a population bias. PTHR1 protein expression was studied using immunohistochemistry, revealing normal expression. The presence of the described PTHR1 mutation was analyzed, using allele-specific oligonucleotide hybridization confirmed by sequence analysis, in tumors from 26 patients. In addition, 11 patients were screened for other mutations in the PTHR1 gene by sequence analysis. Using both allele-specific oligonucleotide hybridization and sequencing, we could neither confirm the previously found mutation nor find any other mutations in the PTHR1 gene. These results indicate that the PTHR1 gene is not, in contrast to previous suggestions, the culprit for enchondromatosis.

Adolescent↗

PubMed2002

Chondrosarcoma of the hand secondary to multiple enchondromatosis; report of two cases.

Although malignant transformation to chondrosarcoma may occur in some patients with multiple enchondromatosis, this event rarely occurs in the hand. We encountered two patients with chondrosarcoma of the hand secondary to multiple enchondromatosis. One patient was a 27-year-old man and the other, a 76-year-old man. Both patients manifested multiple osteolytic lesions in the hand on the plain radiographs. Severe bone destruction associated with a large soft-tissue swelling of the proximal and middle phalanges of the little finger was seen in case 1. In case 2, tremendous expansion and bone destruction of the middle phalanx of the ring finger was seen. Magnetic resonance images of the tumour in both patients showed low signal intensity on T1-weighted and high signal intensity on T2-weighted images. Amputation was performed in each patient. Histological examination revealed that the tumour was a grade 2 chondrosarcoma in case 1 and a grade 1 chondrosarcoma in case 2 accompanied by enchondromata. From these findings, the diagnosis of chondrosarcoma secondary to multiple enchondromatosis was made. Because quite a few patients with multiple enchondromatosis develop secondary chondrosarcoma, although rarely in the hand, the enchondromata should be curetted, unless impractical, before malignant transformation occurs.

Adult↗

PubMed2002

A mutant PTH/PTHrP type I receptor in enchondromatosis.

Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to chondrosarcoma. The extent of skeletal involvement is variable in enchondromatosis and may include dysplasia that is not directly attributable to enchondromas. Enchondromatosis is rare, obvious inheritance of the condition is unusual and no candidate loci have been identified. Enchondromas are usually in close proximity to, or in continuity with, growth-plate cartilage. Consequently, they may result from abnormal regulation of proliferation and terminal differentiation of chondrocytes in the adjoining growth plate. In normal growth plates, differentiation of proliferative chondrocytes to post-mitotic hypertrophic chondrocytes is regulated in part by a tightly coupled signaling relay involving parathyroid hormone related protein (PTHrP) and Indian hedgehog (IHH). PTHrP delays the hypertrophic differentiation of proliferating chondrocytes, whereas IHH promotes chondrocyte proliferation. We identified a mutant PTH/PTHrP type I receptor (PTHR1) in human enchondromatosis that signals abnormally in vitro and causes enchondroma-like lesions in transgenic mice. The mutant receptor constitutively activates Hedgehog signaling, and excessive Hedgehog signaling is sufficient to cause formation of enchondroma-like lesions.

Animals↗

PubMed1991

Generalized enchondromatosis in a boy with only platyspondyly in the father.

We report on a boy with platyspondyly and metaphyseal manifestations of enchondromatosis with severe involvement of hands and feet, compatible with generalized enchondromatosis (enchondromatosis Spranger type VI). His father has only moderate platyspondyly. The latter is either coincidental or a milder, more localized expression of the disease. Father and son have consanguineous parents suggesting autosomal recessive inheritance of the trait. However, autosomal dominant inheritance with variable expressivity is also possible.

Adult↗

PubMed1984

Enchondromatosis (Ollier's disease) and ovarian juvenile granulosa cell tumor.

An ovarian juvenile granulosa cell tumor in a 15-year-old white girl is reported. The patient had enchondromatosis (Ollier's disease). amd a review of the literature revealed two previous reports linking enchondromatosis with ovarian sex-cord stromal tumors. This heretofore unrecognized association between these two unusual lesions indirectly supports a generalized mesodermal dysplasia in patients with enchondromatosis. It also draws attention to the possible emergence of ovarian neoplasms in addition to the more frequently encountered chondrosarcomas.

Adolescent↗

PubMed1978

Two peculiar types of enchondromatosis.

On the basis of 3 personal observations and of 6 cases from the literature, two peculiar types of enchondromatosis are delineated: 1. Enchondromatosis with generalized, irregular vertebral lesions, and 2. Generalized enchondromatosis with mild platyspondyly.

Bone and Bones↗

PubMed1988

Ollier's disease and Maffucci's syndrome: distinct entities or a continuum. Case report: enchondromatosis complicated by an intracranial glioma.

A patient with the diagnosis of enchondromatosis (Ollier's disease) presented with seizures. CT examination showed an avascular right frontal lobe lesion. Surgery revealed a histologically verified grade II astrocytoma. This case is consistent with recent evidence that questions the distinction between the two forms of enchondromatosis (Ollier's disease and Maffucci's syndrome). Maffucci's syndrome is associated with a high rate of malignancy, including intracranial gliomas. Ollier's disease has not been associated with malignant change, other than sarcomatous transformation of the enchondromas. However, Ollier's disease and Maffucci's syndrome may be a spectrum of the same disease process, and therefore patients with diagnosed Ollier's disease are at a higher risk for malignancy than has been previously recognized.

Adult↗

PubMed1990

Neonatal radiological aspect of enchondromatosis (Ollier's disease).

A neonatal case of enchondromatosis is reported on, presenting with typical clinical features and radiological changes at birth. At two years of age, the enchondromata had considerably enlarged, and diagnosis was established by biopsy. The radiological aspect of enchondromatosis in the neonate is described and compared to its development in early childhood.

Enchondromatosis↗

PubMed2006

Achondroplasia and enchondromatosis: report of three boys.

We report on three boys suffering from achondroplasia concurrent with enchondromatosis-like metaphyseal changes. Two boys who were examined by molecular analysis harbored a mutation of FGFR3, which occurs in most achondroplastic individuals. Given the prevalence of achondroplasia and enchondromatosis, the metaphyseal changes in these patients are less likely to represent the coincidence of both disorders, but rather to result from a rare consequence of the FGFR3 mutation. Impaired FGFs/FGFR3 signaling pathway in achondroplasia inhibits chondrocytic proliferation, which accounts for most characteristics of achondroplasia. On the other hand, it causes conflicting biological consequences that can suppress or stimulate chondrocytic maturation. In a small subset of achondroplastic individuals, the suppression of chondrocytic maturation may outweigh the stimulation, which leads to cartilaginous overgrowth into the metaphysis, eventually causing the metaphyseal dysplasia found in the present patients.

Achondroplasia↗

PubMed1998

Simultaneous occurrence of a supra- and an infratentorial glioma in a patient with Ollier's disease: more evidence for non-mesodermal tumor predisposition in multiple enchondromatosis.

A case is presented in which two neuro-ectodermal tumors, an infra- and a supratentorial glioma, developed in a young man with multiple enchondromatosis of Ollier's disease. This is the third such case of multifocal low-grade glioma in Ollier's disease, suggesting a predisposition for non-mesodermal tumors in Ollier's disease. The related condition of multiple enchondromatosis and hemangiomas (Maffucci's syndrome) is well known for its malignant potential, developing both mesodermal and non-mesodermal tumors. Along with other authors, we support the concept of two variants of the same disease with a predisposition to development of tumors from various germ layers.

Adult↗

PubMed1998

Epiphyseal-metaphyseal enchondromatosis. A new clinical entity.

We reviewed the cases of eight unrelated children who had an unusual form of enchondromatosis characterized by unilateral enchondromas arising within the epiphyseal and metaphyseal regions of the long tubular bones of the lower extremity. Unlike previously described enchondromas, the lesions developed extensively within the epiphysis before closure of the growth plate and there was direct extension across the epiphyseal growth plate into the metaphysis. The lesions resulted in severe limb-length discrepancy and angular deformity (which increased in every patient after the time of presentation), asymmetrical premature physeal arrest, and joint incongruity, all of which necessitated numerous operative procedures. Seven patients had limb-lengthening and one had a Boyd amputation without lengthening. Five patients had a second lengthening procedure. Twenty-seven osteotomies (range, one to five procedures per patient) were done; six patients had a repeat osteotomy. Four patients had an epiphyseodesis. We believe that these lesions represent a previously undescribed clinical entity, which we termed epiphyseal-metaphyseal enchondromatosis.

Biopsy↗

PubMed2006

[Surgical treatment of hand deformities in multiple enchondromatosis: a case report].

Multiple enchondromatosis (Ollier's disease) is a rare disease characterized by widespread enchondromas. In general, the short tubular bones of the hand are involved, with progressive lesions resulting in cosmetic problems and functional deformities. Diaphysectomy and reconstruction with structural autografts or allografts are usually recommended in the treatment of extensive enchondromas involving the fingers. Curettage and grafting and ray amputation are other surgical procedures that can be applied depending on the severity of involvement. A 25-year-old woman with enchondromatosis presented with severe swelling and deformities on her fingers in both hands. The majority of the lesions were managed by diaphysectomy and reconstruction with structural grafts; ray amputation, curettage and grafting were performed for more severe lesions. During a long-term follow-up (left hand 6 years, right hand 5.5 years) cosmetic and functional results were acceptable.

Abnormalities, Multiple↗

PubMed1990

[Multiple enchondromatosis in dogs. Pathologico-anatomic and histologic findings, discussion of pathogenesis].

Data is presented of the post-mortem macroscopic and microscopic examination of two Toy Poodles with multiple enchondromatosis (Ollier syndrome). In both animals opening and maturation disorders of the growth plates were found in several skeletal locations. Due to the dogs' age difference at necropsy (14 and 4 months), some variation was also present in occurrence and appearance of primary and secondary alterations, which gave rise to some conclusions regarding development and progression of the disease. Chondrodysplasia, a characteristic of several breeds, is considered to be the essential factor in the pathogenesis of multiple enchondromatosis in the described cases.

Animals↗

PubMed1989

[A combination of multiple cartilaginous exostoses and enchondromatosis of bone in a family].

Four cases of multiple cartilaginous exostoses in a family (mother and three children) are described. In two children the exostoses are combined with enchondromatosis of the large tubular bones. At some phalanges of these children the changes show the roentgenologic signs of solitary enchondromas and ecchondromas and in one of the cases with cartilaginous exostoses osteochondroma-like changes were found. The combination of the described symptoms seems to indicate a close relationship between enchondromatosis and the cartilaginous exostoses, as well as between these chondrodysplasias and the cartilaginous tumours.

Adult↗

PubMed1996

[The appearance of multiple enchondromatosis from material of the Orthopedic Clinics AM in Gdańsk].

The work deals with 8 patients suffering from multiple enchondromatosis confirmed by histological investigation. Six of them showed typical for Ollier's disease unilateral localization. The remaining two in spite of both sides changes demonstrated severer deformations on one of them. The most common complications of enchondromatosis and the aims of operative treatment are described. In the case of sarcomatous degeneration adequate surgery is indicated.

Adolescent↗

PubMed1998

Enchondromatosis with features of dysspondyloenchondromatosis and Maffucci syndrome.

We report a girl with multiple enchondromatosis, unequal leg length, short stature, congenital scoliosis, lymphangioma, and cutaneous hemangiomata. The skeletal findings were consistent with the clinical and radiological features of dysspondyloenchondromatosis except that short stature was not apparent in the neonatal period. Dysspondyloenchondromatosis is a rare disorder, one of the several types of multiple enchondromatosis with spinal abnormalities. In previous reports of this condition the association of vascular lesions usually found in Maffucci syndrome has not been described.

Child↗

PubMed1982

Generalized enchondromatosis with unusual complications of soft tissue calcifications and hemangiomas. Follow-up for over a twelve-year period.

Generalized enchondromatosis is a newly delineated type of enchondromatosis. Radiographically there are multiple enchondromata in almost all metaphyses of the long and short tubular bones and the lesions are in almost the same stage of development with mild platyspondyly and skull deformity. The pelvic changes are characteristic and, together with the metaphyseal changes of the long and short tubular bones, are probably diagnostic of this disorder. The present case demonstrates advanced radiographic features of this disorder associated with unusual soft tissue calcifications and hemangiomas. The presence of hemangiomas in our case as well as three cases in the literature suggests this feature is more than a coincidence.

Bone Neoplasms↗

PubMed2002

Distinctive enchondromatosis with spine abnormality, regressive lesions, short stature, and coxa vara: importance of long-term follow-up.

We report a girl with a unique type of enchondromatosis observed from birth to puberty. Radiographic abnormalities documented at the age of 14 months included distinctive spondylometaphyseal enchondromatous types of lesions with minimal involvement of the short tubular and flat bones. Follow-up radiographic examinations documented progressive coxa vara and hypoplasia/dysplasia of the left ulna. At puberty, the short tubular bones appeared normal. There was marked regression of the flat bone, rib, and spinal lesions. This case shows the importance of long-term observation of unclassified forms of skeletal dysplasia.

Abnormalities, Multiple↗