Maffucci syndrome
Introduction
Introduction to Maffucci syndrome Maffucci syndrome refers to multiple endogenous chondromas with multiple hemangioma, a congenital but not hereditary disease. No region and ethnicity tend to develop, more common in men, more from the onset of puberty, long history, usually painless, but due to the presence of tumors may affect the function of the limbs. Maffucci first described it in 1881. basic knowledge The proportion of illness: 0.001% Susceptible people: infants and young children Mode of transmission: mother-to-child transmission Complications: chondrosarcoma thyroid adenoma pituitary tumor endothelioma breast cancer
Cause
The cause of Maffucci syndrome
Etiology
The etiology is unknown. It is generally considered to be the abnormal development of mesoderm. Because cartilage and blood vessels are derived from the mesoderm, there may be genes on the chromosomes, and at the same time control the development of two unit tissues of cartilage and blood vessels. When this gene is abnormal, There are two different types of tissue lesions at the same time, for rare diseases, different races and male and female sexual morbidity, no family history, no hereditary, the average age of onset is 5 years old, and 25% of the symptoms at birth, 45% of patients develop symptoms before the age of 6.
[pathological changes]
There is no difference between endogenous chondroma and endogenous chondromatosis (ie, abnormalities of cartilage development or ollier disease). The majority of hemangioma is cavernous hemangioma, soft, multi-leaf, and non-vascular pulsation. There are also reports of capillary hemangioma and vascular hamartoma, often accompanied by varicose veins, venous thrombosis and venous stone formation.
Prevention
Maffucci syndrome prevention
The disease is a congenital disease. At present, there is no effective preventive measure. Because the disease has the possibility of malignant transformation, it should be carefully observed when the patient is diagnosed and treated. If necessary, perform a biopsy to provide the patient with the correct condition. Treatment.
Complication
Maffucci syndrome complications Complications chondrosarcoma thyroid adenoma pituitary tumor vascular endothelial tumor breast cancer
The prognosis of this disease is good, but prone to malignant transformation, 15% can be associated with bone and vascular malignant tumors, often chondrosarcoma, the prognosis is generally worse than simple endogenous chondroma disease, Maffucci syndrome is also associated with some benign or malignant tumors such as thyroid Adenoma, pituitary tumor, hemangioendothelioma, ovarian tumor and breast cancer are related.
Symptom
Maffucci syndrome symptoms common symptoms knee inversion flat foot hip varus
The disease is often bilateral, but unilateral is more common, common in the metacarpal and phalanx (87.8%), the patient's intelligence is normal, but the body is short, about 12% of the patients are gnomes, and often have lower limbs Long (36%), sometimes seen in the hand, knee varus, hip varus, flat foot and other secondary malformations, limb function is often damaged by the tumor, bone lesions are often not directly related to hemangioma, that is, both Can occur in different limbs, no pain, the malignant rate of endogenous chondroma of patients can reach 15.2 ~ 18.6%, and there can be several cases of malignant transformation in the same patient, hemangioma also has malignant reports, if the tumor Expanded scope and pain in the absence of trauma should be promptly biopsied.
Examine
Maffucci syndrome check
The examination of this disease is mainly carried out by imaging examination.
1. X-ray inspection, X-ray main performance is:
1 Bone changes: most of the stems and diaphysis involving the tubular bone, showing cystic, columnar translucent or defect areas, strips of dense shadows in the translucent area, thinning of the cortical bone, and even breakthrough into deep soft tissue, complete early lesions Translucent, punctate calcification occurs in childhood, gradually thickens and increases in the future, and the lesion gradually develops to cause bone enlargement, deformity and growth disorders;
2 soft tissue changes: visible swelling or lobulated mass, which may have multiple venous stones of different sizes, in the neonatal period may not appear venous stones.
2, MRI examination: necessary to do a full-body MRI to find hemangioma in the skin, internal organs, etc., to determine whether there is Maffucci syndrome.
Diagnosis
Diagnosis and identification of Maffucci syndrome
The diagnosis of this disease is not difficult, the prognosis is also good, sometimes need to perform orthopedic surgery, such as the disease can not be corrected, and seriously affect the function or malignant transformation, should consider amputation.
The disease is often accompanied by varicose veins, embolism and venous stones, and both bone and soft tissue can be malignant, endogenous chondroma has a tendency to malignant, often turned into chondrosarcoma, need to be identified with Kaposi.
However, the above identification points are not absolute. Sometimes the skin lesions of Maffucci syndrome and Ka2posi sarcoma are similar and indistinguishable under the naked eye and under the microscope. Therefore, it is necessary to pay attention to the diagnosis in order to confirm the diagnosis.
