Pediatric chondrodystrophy-angioma syndrome
Introduction
Introduction to pediatric cartilage dystrophy-hemangioma syndrome Cartilage dystrophy - angioma syndrome (Maffuccisyndrome) is Maffucci syndrome, also known as cartilage dysplasia with multiple hemangioma, endogenous chondroma syndrome, multiple endochondromatosis (multipleenchondromatosis), Ollier syndrome, Progressive chondral developmental disorders and multiple hemangioma, Kast syndrome achondroplasia, chondromasis complicated with hemangioma (chondrodysplasia with hemangioma), chondrodystrophy complicated with vascular hamartoma (chondrodystrophy withvascularhamartoma), etc., the incidence is mostly 1 to 5 years old, mainly For cartilage tumors of small bones of the hand and foot, it can develop into chondrosarcoma, and the dysplasia of cartilage is progressive. Until puberty, the flat bone is rarely involved. The main feature of this disease is that chondrocyte hyperplasia and hemangioma coexist. basic knowledge Sickness ratio: 0.0001% Susceptible people: children Mode of infection: non-infectious Complications: Fractures Chondromas Fibrosarcoma Angiosarcoma
Cause
Pediatric cartilage dystrophy - the cause of hemangiomas syndrome
(1) Causes of the disease
This syndrome is caused by congenital mesodermal dysplasia and affects cartilage and vascular tissue, but is not hereditary and has no chromosomal abnormalities.
(two) pathogenesis
It may be that the vasospasm phagocytosis of the calcified cartilage is abnormal, resulting in the accumulation of uncalcified cartilage and the misfolding of the chondrocytes in the metaphysis.
Pathological changes: showing that the long tubular bone becomes short and curved, the metaphyseal end is widened, and the diseased bone is opened longitudinally. There are many round or oval gray-white areas in the cartilage, and there is a bone diaphragm in between, and the bone lesion area of the disease is about Sarcotumous changes can occur in 20% of patients. Histological examination shows that small chondrocytes and large vacuolar chondrocytes are arranged in disorder, intracellular matrix calcification is poor, and there is glassy cartilage between cells.
Prevention
Pediatric cartilage dystrophy - prevention of hemangiomas
Eat a reasonable diet and pay attention to rest.
Complication
Pediatric cartilage dystrophy - hemangioma syndrome complications Complications, chondroma, fibrosarcoma, angiosarcoma
It is prone to pathological fractures, endogenous chondromas and exostoses. These changes often lead to skeletal deformities. Deformities are aggravated with bone development, often causing limb dysfunction. When hemangioma is large, erectile dysplasia can occur. Blood pressure, prone to malignant tumors, other reported malignant tumors include fibrosarcoma, angiosarcoma, lymphangioma, glioma, ovarian teratoma and pancreatic adenocarcinoma.
Symptom
Pediatric cartilage dystrophy - Hemangioma syndrome symptoms Common symptoms Chondroital dysplasia and... Nutritional disorders Varicose skeletal deformation shortens nodule hypotension
The lesion began in childhood and found bone and cartilage malformations, and there was no significant difference in the prevalence of both sexes.
1. Hemangioma: Most cases begin with obvious vascular damage at birth or in infancy, including hemangioma, vascular hamartoma, lymphangioma, varicose veins, etc. These injuries are often multiple and can be unilateral or On both sides, the one exception reported by Zeng Lingji showed more than 10 hemangiomas on the skin or subcutaneous. Most of the hemangioma were spongy, a few were capillary type, and increased with the growth of the child, generally confined to the dermis. Hemangiomas can also occur in the lower and subcutaneous tissues, internal organs, eyelids, and retina.
2. Chondroital dysplasia and endogenous chondroma: Chondroital dysplasia is caused by congenital cartilage defects, usually later than vascular damage, the bones at the extremities are most often affected, and the clinical manifestations of cartilage dysplasia are The bones have hard nodules, the affected bones are shortened, the bones are crisp, and when the development stops, the deformity no longer develops.
3. Upright hypotension: When the hemangioma is large or occurs at a low level, there is a possibility of orthostatic hypotension.
4. Malignant tumor tendency: patients with this syndrome have a tendency to develop malignant tumors, malignant tumors on the basis of the original lesions or malignant tumors unrelated to the symptoms, and about 20% of chondrosarcoma occurs due to the deterioration of endogenous chondromas. Made.
Examine
Pediatric cartilage dystrophy - hemangiomas syndrome examination
General laboratory examination showed no specific changes. Histological examination showed that small chondrocytes and large vacuolar chondrocytes were arranged in disorder, intercellular matrix calcification was poor, and there was hyaline cartilage between cells. Pathological examination revealed that the epiphyseal plate could not undergo normal ossification. The bone enters the mature bone and is an endogenous chondroma. The deformity of the bone is caused by this.
X-ray examination showed that the short tubular bones of the hands and feet often expanded into a spherical shape, and the cortical bone became thinner and expanded to the periphery. Among them, there was often calcification, and a circular or elliptical translucent area was visible near the iliac crest of the long tubular main iliac crest. The cortical bone is thinned, so that pathological fractures can occur, and there are spotted calcifications in the tumor.
Diagnosis
Diagnosis and diagnosis of pediatric cartilage dystrophy-hemangioma syndrome
According to clinical manifestations, combined with X-ray examination and biopsy, it is helpful for diagnosis.
Different from cartilage dysplasia, the disease has obvious vascular damage at birth or infancy, no hereditary, no chromosomal abnormalities can help identify.
