Presentation
The presentation, pathophysiology and management of the syndrome are briefly discussed. [ncbi.nlm.nih.gov]
Presentations may include Intellectual Disability, disseminated non-ossifying fibromas of the long bones and jaw, hypogonadism or cryptorchidism, or giant cell granulomas of the jaw. [wikinow.co]
The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer. [gulfdoctor.net]
We present a case of JCS evaluated with99m Tc-methylene diphosphonate (MDP) bone and99m Tc-octreotide scans. A 27-year-old male presented to the emergency department with a fracture of the right femur following a motor accident. [wjnm.org]
Symptoms and Presentation The skin lesions are cafe au lait patches, which are brown to dark brown and usually found on the trunk. [bonetumor.org]
Entire Body System
- Surgical Procedure
The patient had had two previous surgical procedures consisting of curettage and bone graft packing for lesions in the distal parts … [scinapse.io]
This is the surgical procedure most commonly used to treat NOFs. In curettage, special instruments are used to scrape the tumor out of the bone. Bone graft. [orthoinfo.aaos.org]
The patient had had two previous surgical procedures consisting of curettage and bone graft packing for lesions in the distal parts … ...read moreread less Douglas R. Stewart1, Hilde Brems2, Alicia G. Gomes3, Sarah L. [typeset.io]
- Coarctation of the Aorta
Coarctation of the aorta (isthmic portion) with a velocity of 2.3–2.4 m/sec, which did not require any intervention, was observed on the 2-dimensional echocardiogram. [e-sciencecentral.org]
Coarctation of the aorta (isthmic portion) with a velocity of 2.3â2.4 m/sec, which did not require any intervention, was observed on the 2-dimensional echocardiogram. [e-apem.org]
- Pallor
Persistent hyaloid vessels, lens dislocation, iris dysplasia, aniridia, coloboma, microphthalmia, ocular calcifications, and optic disc pallor have also been reported. [e-sciencecentral.org]
- Leg Edema
She had left hemibody hyperpigmentation and ipsilateral edema of leg. She had 2 years of slow development compare to the same age group. [abstracts.eurospe.org]
Skin
- Freckles
Figure 1 Typical “coast-of-California” café-au-lait spots (a) and axillary freckles (b). [bmcmusculoskeletdisord.biomedcentral.com]
Abstract Background: Jaffe-Campanacci is a rare syndrome characterised by the association of café-au-lait spots, axillary freckles, multiple non-ossifying fibromas of the long bones and jaw, as well as some features of type 1 neurofibromatosis. [mendeley.com]
It is presented by non-ossifying fibromas, café-au-lait spots and axillar freckling. Non-ossifying fibromas are usually found after minor traumas or stress fractures. [ncbi.nlm.nih.gov]
- Axillary Freckling
Figure 1 Typical “coast-of-California” café-au-lait spots (a) and axillary freckles (b). [bmcmusculoskeletdisord.biomedcentral.com]
Abstract Background: Jaffe-Campanacci is a rare syndrome characterised by the association of café-au-lait spots, axillary freckles, multiple non-ossifying fibromas of the long bones and jaw, as well as some features of type 1 neurofibromatosis. [mendeley.com]
Child's Nervous System ( IF 1.298 ) Pub Date : 2019-02-06, DOI: 10.1007/s00381-019-04064-9 Yong Han,Hangzhou Wang ᅟJaffe-Campanacci is a rare syndrome characterised by axillary freckles, multiple non-ossifying fibromas of the long bones and jaw, and café-au-lait [x-mol.com]
In 1958, Jaffe 2 subsequently described a rarely seen clinical entity in which multiple nonossifying fibromas occurred in association with café-au-lait spots and axillary freckling, but without accompanying neurofibromas. [stage-journals.lww.com]
In addition, axillary freckles and Lisch nodules were present in all four patients and multiple cutaneous neurofibromas in two patients. [typeset.io]
- Cafe-Au-Lait Spots
Synopsis multiple cafe-au-lait spots multiple non-ossifying fibromata of the bones [humpath.com]
Extraskeletal congenital anomalies of this syndrome include cafe-au-lait spots, mental retardation, cardiovascular abnormalities, ocular deformities, hypogonadism or cryptorchidism. [avesis.ogu.edu.tr]
In a subsequent report of the same findings-that is, multiple nonossifying fibromas and cafe-au-lait spots-Holt3 suggested that they were incidental and unrelated. [scinapse.io]
J. 2005; 26 (1): 104-106 Saudi Medical Journal Journal Country: Saudi Arabia P-ISSN: 0379-5284 E-ISSN: 1658-3175 Type of Publication: Review Keywords: Bone Neoplasms / Diagnosis Broad Subjects: Fibroma ,Diagnosis ,Cafe-au-Lait Spots ,Neurofibromatoses [vlibrary.emro.who.int]
- Alopecia
She had incomplete upper eyelids (coloboma with ectopic cilia on the left side and cryptophthalmos with dermolipoma on the right) and sparse hair with separated alopecia. [e-apem.org]
Additional findings may include alopecia, kyphoscoliosis, hypogonadism or cryptorchidism, mental retardation, ocular, cardiovascular and renal malformations. [medeponyms.com]
Cataract Conjunctival Dermolipoma Pigmentary Dispersion Of The Retina Colobomata Of The Papilla Abnormal Electroretinography Eyelid Malformations Extremities Valgus Or Varus Deformities Leg Length Asymmetry Spine Scoliosis Or Kyphoscoliosis Skin Appendages Alopecia [neo-genetics.com]
She had incomplete upper eyelids and separated sparse alopecia. She had left hemibody hyperpigmentation and ipsilateral edema of leg. She had 2 years of slow development compare to the same age group. [abstracts.eurospe.org]
- Hyperpigmentation
She had left hemibody hyperpigmentation and ipsilateral edema of leg. She had 2 years of slow development compare to the same age group. [abstracts.eurospe.org]
(E) Hyperpigmentation with a cafÊ-au-lait macule is shown. (F) Hemihypertrophy of the left lower limb is shown. Fig. 2 Magnetic resonance imaging of the brain in a girl with encephalocraniocutaneous lipomatosis. [e-apem.org]
(E) Hyperpigmentation with a café-au-lait macule is shown. (F) Hemihypertrophy of the left lower limb is shown. Fig. 2 Magnetic resonance imaging of the brain in a girl with encephalocraniocutaneous lipomatosis. [e-sciencecentral.org]
Side effects, such as hyperpigmentation and scar formation, were rarely seen. [dermagicexpress.blogspot.com]
Musculoskeletal
- Fracture
The fracture was treated by open reduction and internal plate fixation. Some of the bony lesions were biopsied to confirm the diagnosis. The fracture healed eventless, as did the lesions biopsied or involved in the fracture. [bmcmusculoskeletdisord.biomedcentral.com]
Anterior – posterior and lateral radiographs of fracture of distal part of left tibia. [ncbi.nlm.nih.gov]
- Deformed Limbs
This accidental discovery led to his method of distraction osteogenesis, through which non-healing fractures could be corrected, deformed limbs straightened and uneven limbs lengthened. [sm.stanford.edu]
Psychiatrical
- Suggestibility
Pathologically, the results suggested nonossifying fibromatosis. [e-apem.org]
Occasionally, mental retardation, hypogonadism or cryptorchidism, ocular and cardiovascular anomalies, and other skin alterations suggestive of neurofibromatosis are associated. [musculoskeletalkey.com]
Urogenital
- Cryptorchidism
Presentations may include Intellectual Disability, disseminated non-ossifying fibromas of the long bones and jaw, hypogonadism or cryptorchidism, or giant cell granulomas of the jaw. [wikinow.co]
Occasionally, mental retardation, hypogonadism or cryptorchidism, ocular and cardiovascular anomalies, and other skin alterations suggestive of neurofibromatosis are associated. [musculoskeletalkey.com]
Presentations may include intellectual disability, disseminated non-ossifying fibromas of the long bones and jaw, hypogonadism or cryptorchidism, or giant cell granulomas of the jaw. It was characterized in 1958 and 1983. [owlapps.net]
Neurologic
- Irritability
Bengtsson Mariette - - 2013 The Visual Analogue Scale for Irritable Bowel Syndrome (VAS-IBS), a self-rating questionnaire, was designed to measure symptoms and the effect of treatment in patients suffering from irritable bowel syndrome. [biomedsearch.com]
Irritable bowel syndrome (IBS) is a functional disorder with ...... Huang CS, Hess DT, Lichtenstein DR. McCune-Albright syndrome | Orphanet Journal of Rare Diseases | Full ... ; May 19, 2008 ... [wjicwiay.cf]
Workup
X-ray imaging is the widely available modality for evaluation of skeleton, but radionuclide imaging modalities may have a role in workup. [wjnm.org]
X-Ray
- Pericardial Effusion
Links Aggregator Full Text Authors +Show Affiliations, Institute of Human Genetics, University of Erlangen-Nürnberg, Germany., , Source MeSH Adult Aortic Valve Stenosis Biopsy Bone Neoplasms Chylothorax Female Fibroma Humans Male Pericardial Effusion [unboundmedicine.com]
Treatment
Treatment Options for this Tumor Treatment of Jaffee Campanacci syndrome should consist of establishment of the diagnosis, if necessary, followed by an assessment of the known bone lesions. [bonetumor.org]
[…] and during treatment; the correction degree of the bone deformation and the restoration of the limb axis. [psu.med-expert.com.ua]
Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]
Prognosis
[…] knee, has a cloud-like, sunburst and codman's periosteal response, is worse if has a skip lesion on lung metastasis Classic Medullary Osteosarcoma tumor is more common in females, is 5-10 years older than in classic medullary (~27), and has a better prognosis [memorize.com]
Stabilization for risk of pathological fracture or actual pathological fracture is definitely indicated Outcomes of Treatment and Prognosis As with most benign bone tumors, there have been reports of malignant transformation of non-ossifying fibromas. [bonetumor.org]
Outcome / Prognosis A fibrous cortical defect usually regresses with time. Prognosis is excellent even in patients who require curettage and bone grafting. [newhealthadvisor.com]
Treatment and prognosis Most NOFs require no treatment and no biopsy. [iranradiology.com]
Etiology
A dictionary of medical eponyms Related people Henry Lewis Jaffe Mario Campanacci A syndrome of unknown etiology with variable expression characterized mainly by multiple non-ossifying fibromata, extraskeletal congenital anomalies such as café-au-lait [whonamedit.com]
The etiology is discussed. [ncbi.nlm.nih.gov]
At a glance Syndrome of unknown etiology with variable expression characterized mainly by nonossifying fibromata, extraskeletal congenital anomalies such as café-au-lait spots, mental retardation, hypogonadism or cryptorchidism, and ocular and cardiovascular [accesspediatrics.mhmedical.com]
Epidemiology
Updated Molecular and Epidemiologic diagrams added to all new chapters. [books.google.es]
Review 2012 Review 2012 The evolving epidemiology of HIV/AIDS. Kevin M De Cock, Harold Jaffe, JamesW. [semanticscholar.org]
[…] generation of clinical cancer genetics investigators.Hereditary Breast/Ovarian Cancer (HBOC) is based on a prospective cohort of 33 BRCA mutation-positive families with extensive clinical/epidemiologic data and biological samples. [grantome.com]
Author information 1 Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA. 2 1] Department of Human Genetics, University of Leuven, Leuven, Belgium [ [ncbi.nlm.nih.gov]
Pathophysiology
The presentation, pathophysiology and management of the syndrome are briefly discussed. [ncbi.nlm.nih.gov]
Pathophysiology, Evaluation, and Treatment ; This is an enhanced PDF from The Journal of Bone and Joint Surgery. 87:1848- 1864 ... Downloaded from ... tenstein and Jaffe in 19422. The true .... [wjicwiay.cf]
[…] report of 10 cases with multiple NOFs and other extraskeletal anomalies in that a new syndrome with a possible connection with neurofibromatosis was proposed.[5] Although currently, some advocate the notion of JCS as a distinct clinical entity, close pathophysiologic [wjnm.org]
In pathophysiology of orthopaedic diseases. American Academy of Orthopaedic Surgeons, Rosemont, IL, pp 131–138 Marks KE, Bauer TW (1989) Fibrous tumors of bone. [link.springer.com]
Pathology and pathophysiology The gross pathology is soft tan fibrous tissue. Microscopically, there are spindled fibroblasts in a dense collagen background. [orthopaedicsone.com]
Prevention
Curettage and bone grafting promote healing of the lesions and should be considered to prevent pathological fracture. [archive.org]
The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer. [gulfdoctor.net]