Symptoma

Metachondromatosis

This 2nd edition of Pediatric Orthopedic Deformities has been expanded to cover more regions and disorders and is being presented in 3 volumes. [books.google.com]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Acronym MC Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

  • Collapse

    The findings in these cases and other reports associating AVN with skeletal dysplasia should encourage treating physicians to analyze carefully a sudden increase in hip pain or rapid radiographic development of femoral head collapse in a child with a [ncbi.nlm.nih.gov]

    Other features include cleft palate, collapse of the tracheobronchial tree, and restrictive pulmonary disease. DOWN SYNDROME (TRISOMY 21) Genomic dosage imbalance at 21q22.3 producing phenotypic variability. [musculoskeletalkey.com]

  • Bowing of The Long Bones

    MC does not lead to shortening or bowing of the long bones, joint deformity, or subluxation. The lesions spontaneously decrease in size or regress. [orpha.net]

    Treatment may include surgery to remove osteochondromas in severe cases. 0001367 Autosomal dominant inheritance 0000006 Bowing of the long bones Bowed long bones Bowing of long bones [ more ] 0006487 Multiple digital exostoses 0005655 Showing of 11 Last [rarediseases.info.nih.gov]

    MC does not usually cause shortening or bowing of the long bones or joint deformity. PTPN11 -related MC is inherited in an autosomal dominant manner. [blueprintgenetics.com]

  • Joint Deformity

    MC does not lead to shortening or bowing of the long bones, joint deformity, or subluxation. The lesions spontaneously decrease in size or regress. [orpha.net]

    MC does not usually cause shortening or bowing of the long bones or joint deformity. PTPN11 -related MC is inherited in an autosomal dominant manner. [blueprintgenetics.com]

  • Hip Pain

    The findings in these cases and other reports associating AVN with skeletal dysplasia should encourage treating physicians to analyze carefully a sudden increase in hip pain or rapid radiographic development of femoral head collapse in a child with a [ncbi.nlm.nih.gov]

    A 65-year-old man complained of left hip pain. Very little internal or external rotation was present on clinical exam. The AP radiograph reveals severe DJD of the hip and a large osteochondroma at the intertrochanteric level of the femur. Figure 4b. [orthopaedicsone.com]

  • Long Bone Deformity

    Delayed and irregular epiphysial formation leads to long bone deformity, in particular coxa vara, genua vara or valga, and brachydactyly as well as premature osteoarthritis. [musculoskeletalkey.com]

  • Distractibility

    The book outlines the biology of: bone repair with differing mechanical environments; cartilage repair at articular and physeal sites; and distraction osteogenesis. [books.google.com]

  • Bulbous Nose

    We describe a 5-year-old girl with features resembling Trichorhinophalangeal syndrome, type I (sparse scalp hair, bushy eyebrows, bulbous nose, long philtrum, cone-shaped epiphyses, clinobrachydactyly, epiphyseal changes in the femoral head and short [ncbi.nlm.nih.gov]

If a lesion does change, a proper workup with magnetic resonance imaging and possible excision of the involved tumor is highly warranted. 1 Outcome of the case. [consultant360.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment and prognosis With this condition, the cartilaginous lesions rarely undergo malignant transformation and spontaneous regression is usually expected. In asymptomatic and uncomplicated cases, no treatment is usually required. [radiopaedia.org]

Recognition of true AVN, in contrast to the gradual evolution of head shape change in typical skeletal dysplasia, may change treatment recommendations and prognosis. [ncbi.nlm.nih.gov]

Treatment may include surgery to remove osteochondromas in severe cases. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI. [diseaseinfosearch.org]

Recognition of true AVN, in contrast to the gradual evolution of head shape change in typical skeletal dysplasia, may change treatment recommendations and prognosis. [ncbi.nlm.nih.gov]

Prognosis No malignant transformation has been reported so far. Clinical course is unpredictable as there may be simultaneous growth of some of the lesions and regression of others. [orpha.net]

Treatment and prognosis With this condition, the cartilaginous lesions rarely undergo malignant transformation and spontaneous regression is usually expected. In asymptomatic and uncomplicated cases, no treatment is usually required. [radiopaedia.org]

Verdegaal SHM, Bovée JVMG, Pansuriya TC, Grimer RJ, Predictive factors and prognosis of central chondrosarcoma in patients with Ollier and Maffucci Syndrome; Report of 133 patients. [journals.sfu.ca]

Etiology Loss-of-function mutations, including deletions, non-sense mutations and splice sites mutations, of the PTPN11 gene (12q24) have been linked to MC in several families. [orpha.net]

It provides complete, current information on the anatomy, etiology, clinical features and presentation, natural history, radiographic, MRI, and CT evaluation, and treatment of all congenital and acquired conditions, both common and rare. [books.google.com]

[…] originates in metaphysis or region of apophysis Arises on surface of bones and enlarges through process of endochondral ossification Osteochondroma occurs in 2 clinical settings As solitary lesion Multiple lesions (multiple hereditary osteochondromatosis) ETIOLOGY [basicmedicalkey.com]

Hereditary multiple exostoses: One center's experience and review of etiology. Clin Orthop Relat Res 2002;401:49-59. 10. Stickens D, Clines G, Burbee D. The EXT2 multiple exostoses gene defines a family of putative tumor suppressor genes. [jscisociety.com]

Chondroma is a benign neoplasm of unknown etiology, though a hamartomatous origin has been documented. These tumors probably arise from remnants of the embryonic cartilaginous skeleton that escape resorption during endochondral ossification [5]. [kundoc.com]

Summary Epidemiology The prevalence is unknown and fewer than 40 cases have been reported. Clinical description The first signs of MC occur during the first decade of life. [orpha.net]

Epidemiology Ollier's disease is very rare. The estimated prevalence of Ollier's disease is 1/100,000. [ 1 ] Maffucci's syndrome is even rarer. [patient.info]

[…] osteochondromas are associated with previous radiation Most patients are young 25% of patients 5 years who receive total body radiation develop osteochondroma Patients with metachondromatosis have both osteochondromas and enchondromas CLINICAL ISSUES Epidemiology [basicmedicalkey.com]

Black B, Dooley J, Pyper A, Reed M: Multiple hereditary exostoses: an epidemiologic study of an isolated community in Manitoba. Clin Orthop 287:212-7,1993. Bleshman MH, Levy RM: An unusual location of an osteochondroma. Radiology 127:456,1978. [orthopaedicsone.com]

Pathophysiology The lesions are essentially hamartomatous proliferations of cartilage cells within the metaphyses or perversion of enchondral growth and are therefore confined to cylindrical bone. [boneandspine.com]

This suggests a point mutation in PTHR1 or another gene rather than a large deletion/amplification to explain the pathophysiology of OD [Couvineau et al., 2008]. [karger.com]

How, or if, this is explained by a pathophysiologic overlap with the more extensive and earlier age of onset lentigenes characteristic of the LEOPARD syndrome is not clear. [dx.plos.org]

We report two cases of Maffucci's syndrome associated with cranial base chondrosarcoma, emphasizing pathophysiological features and the challenging management of intracranial chondrosarcomas. [lymphedemapeople.com]

Thus, in contrast to its pro-oncogenic role in hematopoietic and epithelial cells, Ptpn11 is a tumor suppressor in cartilage, acting via an FGFR/MEK/ERK-dependent pathway in a novel progenitor cell population to prevent excessive Ihh production. [opencommons.uconn.edu]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

The cause of this disease is not known and hence preventive options are not known. Maffiucci’s Syndrome This is a nonhereditary disorder affecting the bones and skins as the result of benign multiple enchondromas. [mybiosource.com]

[…] plays a critical role in Müller cell maturation and function, which is necessary for the survival of retinal neurons role in controlling Ras signaling, and retinal degeneration caused by aberrant receptor tyrosine kinase (RTK)-Shp2 signaling may be prevented [genatlas.medecine.univ-paris5.fr]

Prevention Despite acceptance that Ollier's disease carries a risk of malignant change there is little in the literature to quantify the risk and no agreed protocol for screening. [patient.info]