Hamza Amr, Ghannam Ghina, Danial Yaman Koudra, Fattal Abdualh, Ghabreau Lina, Omar Ghefar, Abdullah Manar
Faculty of Medicine, University of Aleppo, Aleppo, Syria.
Pathology Department, Aleppo University Hospital, Aleppo, Syria.
Ann Med Surg (Lond). 2021 Jan 19;62:175-178. doi: 10.1016/j.amsu.2021.01.032. eCollection 2021 Feb.
Hand-Foot-Genital Syndrome (HFGS) is a dominantly inherited condition and one of the rarest cases encountered in clinical practice. It might be presented with a wide variety of limb malformations and urogenital defects manifestations. In this report, a unique and novel case of HFGS accompanied with Embryonal Rhabdomyosarcoma of the urinary bladder is described in a two-year-old male. The patient was admitted to the hospital in order to investigate a progressively enlarging mass in the lower abdomen. During hospitalization, oliguria was noted by resident physicians. However, hypospadias and dysmorphic abnormalities, demonstrated upon physical examination, were the cornerstone in the diagnosis of HFGS. An accurate visual examination of the abdomen showed dilated superficial veins, and abdominal rigidity appeared through palpation. Furthermore, the radiologic evaluation showed delayed ossification of carpal bones, and abdominal CT scan revealed a necrotic mass in the hypogastric region measuring 12 × 10 cm. A biopsy was performed through which the mass was confirmed as Embryonal Rhabdomyosarcoma of the urinary bladder. The kidney function follow-up showed normal results. Neoadjuvant chemotherapy was started to diminish the tumor size. However, the patient eventually passed away during the treatment phase. This report emphasizes the need for a high index of suspicion to establish early detection of Embryonal Rhabdomyosarcoma in each newborn diagnosed with Hand-Foot-Genital Syndrome (HFGS) to avoid potential fatal consequences.
手足生殖器综合征（HFGS）是一种常染色体显性遗传病，也是临床实践中极为罕见的病例之一。它可能表现出各种各样的肢体畸形和泌尿生殖系统缺陷症状。在本报告中，描述了一名两岁男性患有的独特且罕见的伴有膀胱胚胎性横纹肌肉瘤的HFGS病例。该患者因下腹部肿物进行性增大入院。住院期间，住院医师发现患者少尿。然而，体格检查发现的尿道下裂和畸形异常是诊断HFGS的关键依据。对腹部进行细致的视诊发现浅表静脉扩张，触诊时出现腹部僵硬。此外，影像学评估显示腕骨骨化延迟，腹部CT扫描显示下腹部有一个大小为12×10 cm的坏死肿物。通过活检确诊该肿物为膀胱胚胎性横纹肌肉瘤。肾功能随访结果正常。开始进行新辅助化疗以缩小肿瘤大小。然而，患者最终在治疗阶段死亡。本报告强调，对于每例诊断为手足生殖器综合征（HFGS）的新生儿，都需要高度怀疑以早期发现胚胎性横纹肌肉瘤，从而避免潜在的致命后果。
