An unusual manifestation of Hand-Foot-Genital Syndrome: Embryonal Rhabdomyosarcoma - A case report.

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.

Primary Leiomyosarcoma of the Gallbladder.

Leiomyosarcoma (LMS) of the gallbladder is an extremely rare entity. Most reported cases were mistakenly diagnosed preoperatively as cholecystitis with or without cholelithiasis. We believe that our article demonstrates the 5th case of gallbladder LMS that was suspected preoperatively to be malignant rather than cholecystitis, which fortunately led to radical resection of the tumor instead of simple cholecystectomy. However, the definitive diagnosis relies exclusively on histological and immunohistochemical techniques. We present a case of a 62-year-old Caucasian female complaining of signs and symptoms suggestive for cholecystitis. On ultrasonography, the gallbladder appeared enlarged and filled with a necrotic mass; thus, the presence of adenocarcinoma was suspected. Multislice Computerized Tomography (MSCT) demonstrated no distant metastasis. An extensive radical cholecystectomy was performed, and histological techniques confirmed a leiomyosarcoma diagnosis. In addition, adjuvant chemotherapy of doxorubicin and ifosfamide was administrated. The patient was on follow-up for 2 years and is doing well till date. The discrimination of gallbladder sarcoma preoperatively remains a clinical and radiological challenge. Although radical resection of the tumor remains the mainstay of the treatment, we believe that adjuvant chemotherapy should be administrated in such cases. However, further studies are required in this field.