Camurati-Engelmann disease
עודכן לאחרונה 17 ספטמבר 2024
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
Camurati-Engelmann disease is a skeletal condition that is characterised by abnormally thick bones (hyperostosis) in the arms, legs, and skull.
תיאור
Camurati-Engelmann disease is a skeletal condition that is characterised by abnormally thick bones (hyperostosis) in the arms, legs, and skull.
The thick limb bones can lead to bone pain and muscle weakness in the arms and legs and cause individuals with Camurati-Engelmann disease to tire quickly. Bone pain ranges from mild to severe and can increase with stress, activity, or cold weather. Leg weakness can make it difficult to stand up from a seated position and some affected individuals develop a waddling or unsteady walk. Additional limb abnormalities include joint deformities (contractures), knock knees, and flat feet (pes planus). Swelling and redness (erythema) of the limbs and an abnormal curvature of the spine can also occur.
Individuals with Camurati-Engelmann disease may have an unusually thick skull, which can lead to an abnormally large head (macrocephaly) and lower jaw (mandible), a prominent forehead (frontal bossing), and bulging eyes with shallow eye sockets (ocular proptosis). These changes to the head and face become more prominent with age and are most noticeable in affected adults. In about a quarter of individuals with Camurati-Engelmann disease, the thickened skull increases pressure on the brain or compresses the spinal cord, which can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis.
The degree of hyperostosis varies among individuals with Camurati-Engelmann disease as does the age at which they experience their first symptoms.
Other, rare features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, delayed teething (dentition), frequent cavities, delayed puberty, a shortage of red blood cells (anaemia), an enlarged liver and spleen (hepatosplenomegaly), thinning of the skin, and excessively sweaty (hyperhidrotic) hands and feet.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Camurati-Engelmann syndrome
CED
Diaphyseal dysplasia
Diaphyseal hyperostosis
Diaphyseal osteosclerosis
Engelmann disease
PDD
Progressive diaphyseal dysplasia
Related patient information and medicines
Patient information leaflet
אי ספיקה מיטרלית
The mitral valve is a heart valve that lies between the left atrium ו left ventricle. What is mitral regurgitation. Mitral regurgitation is sometimes called mitral insufficiency or mitral incompetence. In mitral regurgitation the valve does not close properly. This causes blood to leak back (regurgitate) into the left atrium when the left.
Patient information leaflet
נפרופתיה IgA
נפרופתיה IgA is a condition in which a protein causes damage to the kidneys. The protein is called immunoglobulin A or IgA. Nephropathy means an illness that damages the kidney. The main job of the kidneys is to clear waste materials from the body and maintain a normal balance of fluids and chemicals in the body. The kidneys also have other.
Patient information leaflet
היצרות אאורטלית
The aortic valve is a heart valve that lies between the left ventricle and the aorta. In aortic stenosis, when the aortic valve opens to let blood pump through, it does not open as widely as it would normally. The opening between the left ventricle and the aorta is therefore narrowed (stenosed). The amount of blood that can pass from the left.
Patient information leaflet
מחלת מסתמי הלב
Heart valves sit in between the chambers of the heart and control the blood flow through the heart. There are four common types of heart valve problem - mitral stenosis, mitral regurgitation , aortic stenosis and aortic regurgitation. The leaflet called Anatomy of the heart includes details about the function of the heart and how the לב beats..
Patient information leaflet
מחלות הקשורות לאסבסט
People exposed to asbestos can develop diseases in later life. These most commonly affect the lungs but can also affect the lining of the tummy (abdomen). Some conditions - for example, mesothelioma or lung cancer - are more serious than others. This leaflet gives a brief overview of the diseases that are related to having an exposure to asbestos.
Patient information leaflet
מום לב מולד
מום לב מולד is a condition where an abnormality (defect) develops in the heart before birth. There are a number of types of congenital heart defect. Some are mild and cause few problems; others are life-threatening for the baby. Transposition of the great arteries. The British לב Foundation also has a series of leaflets about many.
קריאה נוספת והפניות
- Camurati-Engelmann disease; MedlinePlus, National Library of Medicine.
- Carlson ML, Beatty CW, Neff BA, Link MJ, Driscoll CL. Skull base manifestations of Camurati-Engelmann disease. Arch Otolaryngol Head Neck Surg. 2010 Jun;136(6):566-75. doi: 10.1001/archoto.2010.68.
- Janssens K, ten Dijke P, Ralston SH, Bergmann C, Van Hul W. Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. J Biol Chem. 2003 Feb 28;278(9):7718-24. doi: 10.1074/jbc.M208857200. Epub 2002 Dec 18.
- Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, Guanabens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C, Simsek S, Melancon S, Cundy T, Van Hul W. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet. 2006 Jan;43(1):1-11. doi: 10.1136/jmg.2005.033522. Epub 2005 May 13.
- Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR. Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review. Am J Med Genet A. 2004 Sep 1;129A(3):235-47. doi: 10.1002/ajmg.a.30148.
- Yuldashev AJ, Shin CH, Kim YS, Jang WY, Park MS, Chae JH, Yoo WJ, Choi IH, Kim OH, Cho TJ. Orthopedic Manifestations of Type I Camurati-Engelmann Disease. Clin Orthop Surg. 2017 Mar;9(1):109-115. doi: 10.4055/cios.2017.9.1.109. Epub 2017 Feb 13.
- Zhao L, Hantash BM. TGF-beta1 regulates differentiation of bone marrow mesenchymal stem cells. Vitam Horm. 2011;87:127-41. doi: 10.1016/B978-0-12-386015-6.00042-1.
הצטרפו לשיחה
שתפו את מחשבותיכם או חוויותיכם עם אחרים ב קהילות המטופלים שלנו.
שאלו, שתפו, התחברו.
עיין בדיונים, שאל שאלות ושתף חוויות במאות נושאים בריאותיים.
הירשמו לניוזלטר של פיישנט
המנה השבועית שלך של עצות בריאות ברורות ואמינות - נכתבה כדי לעזור לך להרגיש מעודכן, בטוח ובשליטה.
על ידי הרשמה אתה מקבל את שלנו מדיניות הפרטיות שלנו. באפשרותך לבטל את המנוי בכל עת. לעולם לא נמכור את הנתונים שלך.