PDF(Pubmed)
Abstract：
UNASSIGNED: Fibrodysplasia Ossificans Progressiva is an ultra-rare genetic disorder of progressive soft tissue ossification. Due to unawareness and poor clinical suspicion, the rate of misdiagnosis, delay in diagnosis, and unnecessary diagnostic procedures leading to permanent injury and lifelong disability is common. Here we report this rare genetic disorder in a six years old child who was initially misdiagnosed as multiple exostoses and operated on.
METHODS: A 6 year old child presented with swellings over the posterior neck and back for four years. The patient was misdiagnosed as a case of multiple exostoses and an excisional biopsy was done a year back. The swelling worsened after the excision; currently, she cannot move her neck from side to side, and flex and extend. Examination revealed multiple hard and slightly tender masses over the posterior neck, para scapular and thoracolumbar para spinal region. She also has hallux valgus deformity that had been present since birth. CT (computed tomography) scan confirmed extensive extra-skeletal soft tissue ossification.
UNASSIGNED: The progression of heterotopic ossification is characteristically anatomic and orderly, typically initially involving the body\'s dorsal, axial, cranial, and proximal regions and later in the ventral, appendicular, caudal, and distal regions. Skeletal muscles of the tongue, diaphragm, extra-ocular muscles, cardiac muscles, and smooth muscles are inexplicably spared.
CONCLUSIONS: Early diagnosis prevents potentially harmful diagnostic and therapeutic procedures. The characteristic big toes malformation is the most important and best key for the early suspicion of the diagnosis.
METHODS: A 6 year old child presented with swellings over the posterior neck and back for four years. The patient was misdiagnosed as a case of multiple exostoses and an excisional biopsy was done a year back. The swelling worsened after the excision; currently, she cannot move her neck from side to side, and flex and extend. Examination revealed multiple hard and slightly tender masses over the posterior neck, para scapular and thoracolumbar para spinal region. She also has hallux valgus deformity that had been present since birth. CT (computed tomography) scan confirmed extensive extra-skeletal soft tissue ossification.
UNASSIGNED: The progression of heterotopic ossification is characteristically anatomic and orderly, typically initially involving the body\'s dorsal, axial, cranial, and proximal regions and later in the ventral, appendicular, caudal, and distal regions. Skeletal muscles of the tongue, diaphragm, extra-ocular muscles, cardiac muscles, and smooth muscles are inexplicably spared.
CONCLUSIONS: Early diagnosis prevents potentially harmful diagnostic and therapeutic procedures. The characteristic big toes malformation is the most important and best key for the early suspicion of the diagnosis.
摘要：
■纤维发育不良骨化性进行性软组织骨化是一种超罕见的遗传性疾病。由于无意识和不良的临床怀疑，误诊率,延迟诊断，导致永久性伤害和终身残疾的不必要的诊断程序是常见的。在这里，我们报告了一名6岁儿童的这种罕见遗传疾病，该儿童最初被误诊为多发性外生骨并进行了手术。
方法：一名6岁儿童出现颈部后部和背部肿胀4年。该患者被误诊为多发性外生骨，一年前进行了切除活检。切除后肿胀恶化；目前，她不能左右移动她的脖子，和Flex和扩展。检查发现颈部后部有多个坚硬和轻微的肿块，肩胛骨旁和胸腰段脊柱旁区域。她还患有自出生以来一直存在的外翻畸形。CT（计算机断层扫描）扫描证实广泛的骨骼外软组织骨化。
■异位骨化的进展具有解剖和有序的特征，通常最初涉及身体的背侧，轴向，颅骨，和近端区域，然后在腹侧，阑尾,尾部,和远端区域。舌头的骨骼肌，隔膜,眼外肌肉,心肌,和平滑的肌肉莫名其妙地幸免。
结论：早期诊断可防止潜在的有害诊断和治疗程序。特征性大脚趾畸形是早期怀疑诊断的最重要和最佳关键。
方法：一名6岁儿童出现颈部后部和背部肿胀4年。该患者被误诊为多发性外生骨，一年前进行了切除活检。切除后肿胀恶化；目前，她不能左右移动她的脖子，和Flex和扩展。检查发现颈部后部有多个坚硬和轻微的肿块，肩胛骨旁和胸腰段脊柱旁区域。她还患有自出生以来一直存在的外翻畸形。CT（计算机断层扫描）扫描证实广泛的骨骼外软组织骨化。
■异位骨化的进展具有解剖和有序的特征，通常最初涉及身体的背侧，轴向，颅骨，和近端区域，然后在腹侧，阑尾,尾部,和远端区域。舌头的骨骼肌，隔膜,眼外肌肉,心肌,和平滑的肌肉莫名其妙地幸免。
结论：早期诊断可防止潜在的有害诊断和治疗程序。特征性大脚趾畸形是早期怀疑诊断的最重要和最佳关键。
