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]

[…] if the condition was present at the time of inpatient admission. [icd.codes]

Clinical Presentation The condition is already present at birth when it may occasionally be noticed because of the shortness of an affected limb. The individual typically presents in childhood. [boneandspine.com]

Clinical Presentation A young child presents with multiple bilateral painless, hard lumps adjacent to several joints. He also has mild limitation of wrist and elbow motion. [radiologykey.com]

The most common symptom at presentation is pain, which is present for several months and is of medium intensity. It may worsen at night. Local swelling may be present. [medicaldb.blogspot.com]

• Pain

  A 12-year-old female was admitted to the hospital with pain due to an enlarged mass in her left fifth finger. [ncbi.nlm.nih.gov]

  Most patients with MO will have pain that can be generalized. [consultant360.com]

  Night pain with dramatic relief on taking NSAIDS is characteristic feature and is due to high prostaglandins present in the lesion especially PGE2 and PGI2. [orthoimagemcq4neet.blogspot.com]

  Are not life threatening, however painful malignant transformation can not be excluded, even in this benign appearance on radiography and imaging. [medicaldb.blogspot.com]

• Asymptomatic

  In asymptomatic and uncomplicated cases, no treatment is usually required. History and etymology First described by P Marotaeux et al. in 1971 2,3. Promoted articles (advertising) [radiopaedia.org]

  Specifically, SPECT/CT imaging contributed to the diagnosis of clinically asymptomatic bone lesions, and the 3D SPECT/CT fusion allowed a more comprehensive and intuitive view of the lesion by combining anatomy and function. [ncbi.nlm.nih.gov]

  In asymptomatic and uncomplicated cases, no treatment is usually required. History and etymology First described by P Marotaeux et al. in 1971. [pacs.de]

  […] lesions in metachondromatosis are a mix of osteochondromas and enchondromas; however, one case of chondrosarcoma has been reported.Lesions associated with metachondromatosis may cause a variety of complications due to mass effects; however, they are often asymptomatic [digital.library.adelaide.edu.au]

• Swelling

  We report a rare case of an eight-year-old girl who presented with multiple swellings arising from the metaphysial regions of the femur, tibia, fibula, and the radius. [jscisociety.com]

  History of presenting illness revealed that swelling was insidious in onset, initially small, now increased to attain the present size. There was no history of trauma, fever or similar swelling elsewhere in the body. [kundoc.com]

  Symptoms The symptoms of enchondromatosis tend to progress slowly with swelling and slow growth of the affected bones. In the severe cases, the dumbbell appearance of the long bone is evident. [mybiosource.com]

  Local swelling may be present. When the tumor is adjacent to a joint may be present epansamentele or restrict movement. The average duration of symptoms before presentation is 1-2 years. The tumor occurs occasionally as a pathological fracture. [medicaldb.blogspot.com]

• Pathologist

  Angelo Maffucci was an Italian pathologist who was born in 1847 and died in 1903. He graduated in Naples in 1872. [patient.info]

  Maffucci (Oct. 27, 1847 - Nov 24, 1903) was an Italian pathologist born in Calitri, Italy. In 1872 he received his doctorate at Naples and later was a professor of pathology in Messina (1882), Catania (1883) and Pisa (1884). [lymphedemapeople.com]

• Surgical Procedure

  Relationship between surgical procedure and outcome for patients with grade I chondrosarcomas. Clinics 2005;60:121-6. Liu J, Hudkins PG, Swee RG, Unni KK. Bone sarcomas associated with Ollier's disease. Cancer 1987;59:1376-85. [acta.tums.ac.ir]

• Arthritis

  From the reviews of the first edition: "The section on the differential diagnosis of arthritis is the most comprehensive treatise of the subject that I have seen." # New England Journal of Medicine# 1 "This is a book that one can pick up and read sections [books.google.com]

  These can be caused from damage to joints, like the lumpy joints seen in elderly people with arthritis. Bone spurs from differing causes can develop in many parts of the body, spine, … Read More [sciblogs.co.nz]

  Arthritis) Published in PLoS Genetics Time Date/time value 2011 Identity Digital Object Identifier (DOI) 10.1371/journal.pgen.1002050 Additional Document Info Parent Title PLoS Genetics Volume 7 Issue 4 Publisher Public Library of Science [findanexpert.unimelb.edu.au]

  Other complications can include arthritis and impingement on nearby nerves, tendons, or vessels. Most patients with MO will have pain that can be generalized. [consultant360.com]

  Orthopedic problems include fracture, autoamputation, osteomyelitis, septic arthritis, neuropathic arthropathy, vibratory loss, areflexia, and scoliosis. Emotional lability and absence of pain dictate conservative management. [musculoskeletalkey.com]

• Genu Valgum

  Correction of genu valgum to stabilize patellae. Pilonidal dimple with absent coccyx. Variable mental retardation, short stature, obesity, and eye, ear, cardiovascular, and genitourinary anomalies. [musculoskeletalkey.com]

  […] hip dislocation An epiphyseal osteochondroma, usually found before young adulthood, most commonly affecting the (½) talus or distal femur or tibia; reported in acetabulum and proximal femur May be associated with genu valgum, genu varum, or ankle equinus [orthopaedicsone.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]

• Joint Dislocation

  Limited joint motion, medial rotation of shoulders, extension of elbows, flexion and ulnar deviation of wrists, camptodactyly, thumb in palm, hip dislocation, knee contracture, clubfoot, and scoliosis. Loss of cutaneous creases with joint dimpling. [musculoskeletalkey.com]

• Osteophyte

  […] contains mesenchymal cells ( stain + for FGF receptor 3 and collagen type IIa ) responsible for osteochondroma growth DIFFERENTIAL CLINICOPATHOLOGIC DIAGNOSIS Fong's disease Supracondylar (supracondyloid) process of the humerus Bony spurs (enthesophytes), osteophytes [orthopaedicsone.com]

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]

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]

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 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]

Treatments are related to extent of deformity, remodeling post-surgery and possible recurrence. 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]

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 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]

For patients with chondrosarcoma, prognosis is generally correlated with lesion size, anatomical location and histological grading of the site. [medicaldb.blogspot.com]

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]

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]

[…] 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. [doi.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]