Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A male patient followed from the age of 3 to 25 years was eventually diagnosed as having Proteus syndrome. He was born with linear epidermal nevi of the neck and forearm and presented with macrodactyly of the right hand and progressive hemihypertrophy of the right lower limb recurring after multiple reduction operations. The bone ends showed disorderly overgrowth of hyaline and fibrocartilage mixed with collagen and bone, and early differential diagnoses included Ollier's disease. The child also had vertebral anomalies, scoliosis, a bony protrusion of the cranial vertex, and strabismus. In the second decade he developed gyriform swelling of the soles, retinopathy, bilateral papillary cysts of the epididymis, and a giant cyst of the left kidney with complex glandular foci. At 22 years a 3-cm meningioma containing adipose tissue was resected, and at 24 years a 3-cm cellular nodule of the rete testis with hyperchromatic foci, probably an adenoma, was removed. The features of Proteus syndrome were those of hyperplasia and neoplasia of mostly mesodermal tissues. Unlike other reported cases, overgrowth of a finger recurred at 25 years.
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PMID:Pathology of osseous and genitourinary lesions of Proteus syndrome. 810 99

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.
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PMID:Enchondromatosis with features of dysspondyloenchondromatosis and Maffucci syndrome. 954 36

Enchondromatoses include a heterogeneous group of congenital syndromes characterized by the presence of multiple enchondromas associated with musculo-skeletal malformations secondary to limb shortening, scoliosis, pathological fractures and pseudoarthrosis. The main complication of enchondromas is their malignant transformation to secondary chondrosarcomas, which may occur in up to 25% of cases. The multiple enchondromatosis syndromes have many clinical similarities and the differential diagnosis is therefore difficult to make. We present the clinical case of a 38-year-old patient with a diagnosis of multiple familial enchondromatosis who developed a pelvic chondrosarcoma that was treated with external hemipelvectomy. We reviewed the literature concerning the specific aspects of Mafucci, Oilier and multiple familial enchondromatosis syndromes.
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PMID:[Differential diagnosis of multiple hereditary exostosis: presentation of a clinical case with secondary chondrosarcoma and literature review]. 2037 4

Enchondromas are benign cartilage tumours that grow slowly in the bone metaphysis. They may involve solitary or multiple lesions. Enchondromatoses include a heterogeneous group of hardly distinguishable syndromes characterised by the presence of multiple enchondromas that may cause musculoskeletal malformations (secondary to limb shortening), scoliosis, pathological fractures, or pseudoarthrosis. The most dreaded complication, osteochondrosarcoma, occurs in up to 25% of patients. We present the case of a 67-year-old male with no previous diagnosis, requiring attention due to the appearance of a painful tumour in his left hip which degenerated rapidly over the past year. Family history and clinical-radiological data confirmed the diagnosis of Multiple Familial Osteochondromatosis. Although clinical evolution and imaging led to suspect a malignant degeneration (osteochondrosarcoma), this was not confirmed by the histopathological study of the surgical sample.
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PMID:[Multiple familial osteochondromatosis: presentation of a case]. 2354 Sep 93

We report staged treatment of severe combined spinal deformity in an 11-year-old patient with Ollier disease and abnormal cervical vertebra. Combined scoliosis with systemic pathology and abnormal vertebrae is a rare condition and features atypical deformity location and rapid progression rate and frequently involves the rib cage and pelvis, disturbing the function of chest organs and skeleton. Progressive deformity resulted in cachexia and acute respiratory failure. A halo-pelvic distraction device assembled of Ilizarov components was employed for a staged surgical treatment performed for lifesaving indications. After vital functions stabilized, the scoliosis curve of the cervical spine was corrected and fixed with a hybrid system of transpedicular supporting points, connecting rods, and connectors that provided staged distraction during growth. The treatment showed good functional and cosmetic result.
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PMID:Treatment of combined spinal deformity in patient with ollier disease and abnormal vertebrae. 2443 59

Dysspondyloenchondromatosis (DSC) is a rare form of generalized enchondromatosis and characterized by short stature with unequal limb length, multiple enchondromas in metaphyseal and diaphyseal parts of the long tubular bones, and progressive kyphoscoliosis. Although the COL2A1 gene mutation was found to be responsible for DSC, a case of DSC with no pathogenic mutation in the COL2A1 gene has also been reported, suggesting that the condition is genetically heterogeneous. Here, we report 2 novel heterozygous mutations in COL2A1 in 2 patients with DSC. They had prenatal onset short stature with unequal limb length and generalized enchondroma-like lesions in metaphyseal and diaphyseal parts of the long tubular bones, and osteopenia. The first patient was diagnosed at 3 months of age and followed for 10.5 years. Severe lumbosacral scoliosis and recurrent fractures were observed. The second patient was diagnosed at the age of 4 years. Mild deterioration in scoliosis was observed during the 3-year-long follow-up period. However, skeletal radiography of both patients showed the improvement of enchondromatous lesions. In conclusion, we verified that the COL2A1 gene mutations are responsible for the DSC phenotype. We observed severe osteopenia and fractures which were not reported previously.
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PMID:Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1. 2992 78

Ollier disease (OD) and Maffucci syndrome (MS) are characterized by multiple enchondromas. Patients with MS also have benign vascular overgrowths that become malignant in 8.5% of cases. OD is characterized by multiple enchondromas, typically unilateral in distribution with a predilection for the appendicular skeleton. MS is characterized by multiple enchondromas bilaterally distributed in most of the cases. Both disorders feature multiple swellings on the extremity, deformity around the joints, limitations in joint mobility, scoliosis, bone shortening, leg-length discrepancy, gait disturbances, pain, loss of function, and pathological fractures. About 50% of patients with OD or MS develop a malignancy, such as chondrosarcoma, glioma, and ovarian juvenile granulosa cell tumor. To better understand the natural history of OD and MS, we reviewed 287 papers describing patients with OD and MS. We also created a survey that was distributed directly to 162 patients through Facebook. Here, we compare the review of the cases described in the literature to the survey's responses. The review of the literature showed that: the patients with OD are diagnosed at a younger age; the prevalence of chondrosarcomas among patients with OD or MS was ~30%; in four patients, vascular anomalies were identified in internal organs only; and, the prevalence of cancer among patients with OD or MS was ~50%. With these data, health care providers will better understand the natural history, severity, and prognosis of these diseases and the prevalence of malignancies in these patients. Here, we recommend new guidelines for the care of patients with OD and MS.
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PMID:Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature. 3214 35