Zeller B, Westvik J, Clausen O P, Selberg T
Barneklinikken, Rikshospitalet, Oslo.
Tidsskr Nor Laegeforen. 1995 Nov 20;115(28):3496-8.
A seven-year-old boy with mental retardation and congenital skeletal malformations in the thumbs and big toes developed recurrent lumps in the shoulder and interscapular region. The lumps subsided slowly but left severe stiffness in the affected areas. The first biopsy revealed oedema and a chronic inflammatory response with fibromyxoid proliferation of the soft tissue. A second biopsy revealed ossification of muscle and fascia. The patient is a typical case of fibrodysplasia ossificans progressiva, an autosomal dominant inherited disorder characterized by congenital skeletal malformations in toes and fingers and progressive ectopic ossification, often combined with alopecia, deafness and in rare cases mental retardation. The disorder leads to severe physical disability in young age and respiratory and nutritional problems. No effective treatment is known, but it is important to avoid exacerbating factors such as biopsy, operations and intramuscular injections.
一名患有智力障碍且拇指和大脚趾有先天性骨骼畸形的七岁男孩，其肩部和肩胛间区域反复出现肿块。肿块缓慢消退，但受影响区域留下了严重的僵硬。首次活检显示水肿以及软组织的纤维黏液样增生伴慢性炎症反应。第二次活检显示肌肉和筋膜骨化。该患者是进行性骨化性纤维发育不良的典型病例，这是一种常染色体显性遗传性疾病，其特征为脚趾和手指的先天性骨骼畸形以及进行性异位骨化，常伴有脱发、耳聋，在罕见情况下还伴有智力障碍。这种疾病会在年轻时导致严重的身体残疾以及呼吸和营养问题。目前尚无有效治疗方法，但重要的是要避免诸如活检、手术和肌肉注射等加重因素。
