Fibrodysplasia ossificans progressiva (FOP) presenting as a rapidly growing non-calcified neck mass.

IF 0.7 Q4 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING
Journal of Radiology Case Reports Pub Date : 2021-05-31 eCollection Date: 2021-05-01 DOI:10.3941/jrcr.v15i5.4103
Ghiam Yamin, Shadi Daghighi, Mahmood Mafee
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引用次数: 0

Abstract

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare autosomal dominant inherited disorder leading to mature ossification within soft tissues. We report a 62-year-old female with a 3-week history of a rapidly enlarging left neck mass with no associated symptoms. A neck CT showed a ~10 cm solid-appearing non-calcified left neck mass that markedly decreased in size on a one-month follow-up neck MRI, but with new extensive edema/intense enhancement in floor of the mouth. Prior radiographs documented hallux valgus and heterotopic ossification of the psoas/paraspinal muscles and shoulder girdle. In this case of FOP, no intervention was implemented and the symptoms improved over time and thus paralleled other such cases for flare-ups. Clinicians should be aware of this rare entity, as it is frequently misdiagnosed as cancer or other benign entities such as infection, resulting in biopsies that can often hasten disease progression.

进行性骨化性纤维发育不良(FOP)表现为快速生长的非钙化颈部肿块。
进行性骨化纤维发育不良(FOP)是一种极其罕见的常染色体显性遗传疾病,导致软组织成熟骨化。我们报告一位62岁女性,有3周的左颈部肿大病史,但无相关症状。颈部CT显示约10厘米的实性非钙化左颈部肿块,随访1个月后颈部MRI显示肿块大小明显减小,但口腔底部出现新的广泛水肿/强烈强化。先前的x线片记录了拇外翻和腰肌/棘旁肌和肩带异位骨化。在本例FOP中,没有实施任何干预措施,症状随着时间的推移而改善,因此与其他此类病例的突然发作相似。临床医生应该意识到这种罕见的实体,因为它经常被误诊为癌症或其他良性实体,如感染,导致活检往往可以加速疾病进展。
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来源期刊
Journal of Radiology Case Reports
Journal of Radiology Case Reports RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING-
CiteScore
1.10
自引率
0.00%
发文量
25
审稿时长
24 weeks
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