Fibrodysplasia ossificans progressiva (FOP): watch the great toes!

被引:23
作者
Kartal-Kaess, Mutlu [1 ,9 ]
Shore, Eileen M. [3 ,8 ]
Xu, Meiqi [3 ,8 ]
Schwering, Ludwig [6 ,7 ]
Uhl, Markus [5 ]
Korinthenberg, Rudolf [9 ]
Niemeyer, Charlotte [1 ]
Kaplan, Frederick S. [3 ,4 ]
Lauten, Melchior [2 ]
机构
[1] Univ Hosp, Dept Pediat Hematol & Oncol, Freiburg, Germany
[2] Univ Hosp Schleswig Holstein, Dept Pediat Hematol & Oncol, Lubeck, Germany
[3] Univ Penn, Sch Med, Dept Orthopaed Surg, Philadelphia, PA 19104 USA
[4] Univ Penn, Sch Med, Dept Med, Philadelphia, PA 19104 USA
[5] St Josefs Hosp, Dept Radiol, Freiburg, Germany
[6] Univ Hosp Freiburg, Dept Orthopaed Surg, Freiburg, Germany
[7] Univ Hosp Freiburg, Dept Traumatol, Freiburg, Germany
[8] Univ Penn, Sch Med, Dept Genet, Philadelphia, PA 19104 USA
[9] Univ Hosp, Dept Pediat & Adolescent Med, Freiburg, Germany
关键词
Fibrodysplasia ossificans progressiva (FOP); Heterotopic ossification; ACVR1; ALK2; HETEROTOPIC OSSIFICATION; NATURAL-HISTORY;
D O I
10.1007/s00431-010-1232-5
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder and the most disabling condition of heterotopic (extraskeletal) ossification in humans. Extraskeletal bone formation associated with inflammation preceding the osseous conversion usually begins in the first decade, predominantly in the head, neck, and shoulders. All patients have malformed great toes. Most patients have a spontaneous mutation of the ACVR1 gene. We report a 17-year-old girl with malformed great toes who had her first episode of heterotopic ossification and impaired mobility of the left hip at the age of 13 years. No inflammatory fibroproliferative masses preceded the onset of heterotopic ossification. Radiographic studies demonstrated myositis ossificans, but failure to associate the great toe malformation with heterotopic ossification led to a failure to diagnose FOP. She underwent repeated and unnecessary operative procedures to remove a recurrent lesion. FOP was finally suspected when the great toe malformation was correlated with the trauma-induced heterotopic ossification. Genetic analysis confirmed the presence of the classic FOP mutation (ACVR1 c.617G > A; R206H). This case highlights the importance of examining the great toes in anyone with heterotopic ossification. The association of malformations of the great toe with heterotopic ossification in all cases of classic FOP will lead to prompt clinical diagnosis and the prevention of iatrogenic harm.
引用
收藏
页码:1417 / 1421
页数:5
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