Bone and soft tissue hypertrophy

Introduction Angio-osteohypertrophic syndrome (also known as Klippel-Trénaunay syndrome, Parkes-Weber syndrome, Weber syndrome, hypertrophic vasodilation, vasodilator hypertrophy, osteotrophy, iliac-varicose veins) Bone hypertrophy, vascular-ostebral hyperplasia, skin spinal hemangioma, etc. This condition is characterized by hemangioma and bone and soft tissue hypertrophy. For different phenotypic irregular hereditary inheritance, there is recessive inheritance in patients who are married to close relatives. Its pathogenesis originated from various hypotheses such as spinal cord, sympathetic nerve, vascular motor nerve and embryonic developmental abnormalities, but they were not finally confirmed.

Cause

(1) Causes of the disease

The cause of this disease is unknown.

(two) pathogenesis

For different phenotypic irregular hereditary inheritance, there is recessive inheritance in patients who are married to close relatives. Its pathogenesis originated from various hypotheses such as spinal cord, sympathetic nerve, vascular motor nerve and embryonic developmental abnormalities, but they were not finally confirmed.

an examination

Related inspection

CT examination of limbs CT examination of electrocardiogram

It can occur at any age, and most cases occur at birth or shortly after birth. More men than women. Bone and soft tissue hypertrophy can involve one or more limbs causing limb hypertrophy, often not ipsilateral. Can be associated with visceral hypertrophy, finger (toe), spina bifida and skin pigmentation, ocular manifestations of unilateral congenital glaucoma, eyeball invagination, conjunctival telangiectasia, iris defect, retinal varicose veins and choroidal hemangioma.

Cardiovascular damage: Plaque or cavernous hemangioma can occur in the face, limbs, brain and meninges at birth. In addition, there may be congenital varices, lymphangioma, or any combination of the above.

According to the characteristics of vascular lesions and bone and soft tissue hypertrophy, supplemented by X-ray examination, the growth and thickening of the affected side of the bone tissue can be seen. The abdominal plain film can show multiple changes of the venous stones in the rectum and left colon. In recent years, an ultrasound examination was performed to understand whether the fetus has an anechoic area representing a hemangioma and to make a prenatal diagnosis.

Differential diagnosis

Differential diagnosis of bone and soft tissue hypertrophy:

It must be differentiated from Sturge-Weber syndrome (spleen hemangioma), which is mostly confined to the brain, pia mater and face, and less affected by limbs. Most of the limbs are unilateral, less involved. Side, can be identified.

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