(Q78.4) Enchondromatosis

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153 430 in individuals diagnosis enchondromatosis confirmed
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2 369 deaths with diagnosis enchondromatosis
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2% mortality rate associated with the disease enchondromatosis

Diagnosis enchondromatosis is diagnosed Men are 15.04% more likely than Women

88 252

Men receive the diagnosis enchondromatosis

1 500 (1.7 %)

Died from this diagnosis.

100
95
90
85
80
75
70
65
60
55
50
45
40
35
30
25
20
15
10
5
0
65 178

Women receive the diagnosis enchondromatosis

869 (1.3 %)

Died from this diagnosis.

Risk Group for the Disease enchondromatosis - Men aged 10-14 and Women aged 5-9

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In Men diagnosis is most often set at age 0-79
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Less common in men the disease occurs at Age 80-95+Less common in women the disease occurs at Age 75-84, 90-95+
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In Women diagnosis is most often set at age 0-74, 85-89

Disease Features enchondromatosis

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Non-contagious
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Moderate individual risk, low public risk
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Enchondromatosis - what does this mean

Enchondromatosis is a rare genetic disorder that is caused by a mutation of the pthr1 gene. this mutation leads to the formation of benign cartilage tumors, called enchondromas, in the bones of the hands, feet, and other parts of the body. these tumors can cause pain, deformity, and fracture of the bones. if left untreated, the tumors can grow and spread to other parts of the body, leading to more serious complications.

What happens during the disease - enchondromatosis

Опухоль представляет собой зрелый гиалиновый хрящ с утраченной структурой. В отличие от нормального хряща клетки энхондромы расположены хаотично, их размер и форма могут сильно различаться. Неоплазия покрыта надхрящницей и имеет дольчатое строение. Внутри обычно образуются небольшие очаги окостенения. Характерны дистрофические изменения ткани, проявляющиеся разжижением межклеточного вещества и формированием кист. При малигнизации клетки опухоли становятся более крупными, увеличивается количество клеток с двумя ядрами.

 

«Излюбленная» локализация энхондром – короткие трубчатые кости стоп и кистей. Возможно также поражение плечевой и бедренной кости. В области других длинных костей единичные энхондромы встречаются редко. Иногда поражаются плоские кости: кости таза, лопатка и т. д. При множественном хондроматозе (болезни Олье) опухоли могут выявляться в области одной половины тела (правой или левой) или в области одной конечности. Реже патологический процесс распространяется на обе нижние конечности.

Clinical Pattern

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How does a doctor diagnose

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Treatment and Medical Assistance

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10 Days of Hospitalization Required
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Average Time for Outpatient Care Not Established

Enchondromatosis - Prevention

Enchondromatosis is a genetic disorder that can be prevented by avoiding exposure to radiation and certain toxins, maintaining a healthy diet and lifestyle, and avoiding contact with individuals who may be carriers of the disease. genetic testing can be used to identify those at risk of developing the disorder, allowing for early intervention and preventive measures.

Main symptoms of the disease enchondromatosis

Joint pain

(Arthritis, Rheumatism, Aches, Stiffness, Inflammation, Tenderness, Soreness, Swollen joints, Stabbing pain, Throbbing pain, Sharp pain, Dull ache)

Joint pain is a common symptom that can range from mild to severe. It is often caused by inflammation or injury to the joints, muscles, or tendons. It can be localized to one joint or affect multiple joints. It can be acute, lasting only a few days or chronic, lasting weeks or months. It may manifes...

Age: any ageAccociated with 130 diseases

Bone deformity

(Skeletal abnormality, Bone malformation, Skeletal malformation, Bone abnormality, Skeletal disorder, Bone disorder, Bone deformity, Skeletal deformity, Bone misalignment, Skeletal misalignment)

Bone deformity is a condition in which the shape of the bone is altered due to disease or injury. It can be caused by a number of factors, including genetic abnormalities, trauma, infection, or tumors. Symptoms of bone deformity can include pain, swelling, limited range of motion, and deformity of t...

Age: any ageAccociated with 25 diseases

Pain in the bones

(Aches, Agony, Distress, Misery, Soreness, Suffering, Torture, Torment, Agonizing, Tenderness, Throbbing, Sharpness, Stabbing, Pricking, Twinge, Throb, Pang)

Bone pain is a dull, deep, aching sensation that is felt in the bones or joints. It can range from mild to severe, and can be a constant or an intermittent ache. It can develop suddenly or gradually, and can be localized to one area or widespread throughout the body. It can manifest as a sharp, stab...

Age: any ageAccociated with 42 diseases

Crepitus

(Crackling, Popping, Grating, Clicking, Rattling, Hissing, Buzzing, Squeaking)

Crepitus is a symptom of a medical condition in which there is a crackling sensation or sound when the affected area is moved. It is most commonly experienced in the joints and chest, and is caused by air or fluid trapped in the tissue. It can range from a mild to a severe sensation, and can be acco...

Age: 1 to 100Accociated with 14 diseases

Broken bones

(Fractured bones, Cracked bones, Busted bones, Splintered bones, Shattered bones, Crushed bones, Snapped bones, Smashed bones)

Broken bones are a common injury which can occur after a fall, accident or blow to the body. It is characterized by a cracking or snapping sound, followed by pain and swelling. Depending on the severity of the fracture, the bone may be completely broken or partially cracked. Treatment depends on the...

Age: At null Years OldAccociated with 5 diseases