Multimodal treatment of Kasabach-Merritt syndrome arising from tufted angioma: A case report.

Kasabach-Merritt syndrome (KMS) is a rare type of vascular tumor associated with a severely decreased platelet count. No standard guidelines for the treatment of the disease have been established so far. In the present study, a 1-year-old pediatric patient with KMS arising from tufted angioma was successfully and variously treated with steroids, vincristine, surgery and propranolol for 18 months. Systemic steroids stabilized the platelet count stable, while vincristine reduced the size of the tumor. Due to unpredictable response, the patient was operated. Combination of vincristine and propranolol was introduced post-surgery to improve the severely low platelet count of the patient. Following multimodal therapy for 18 months, there has been no evidence of recurrence or metastasis during 2 years of follow-up. Currently, the patient is alive and well. The management of KMS presents a challenge, and well-designed studies are required to clearly determine the benefits and risks of multidisciplinary treatment.

Misdiagnosed infantile rhabdomyofibrosarcoma: A case report.

Infantile rhabdomyofibrosarcoma is a rare form of soft-tissue tumor often associated with difficulties in diagnosis. The disease is positioned intermediately between rhabdomyosarcoma and infantile fibrosarcoma in terms of clinical presentation, immunohistochemistry, behavior, morphology and ultrastructural features. Reports of rhabdomyofibrosarcoma cases are limited in the literature. The present case describes a 26-month-old female who presented with a slowly progressive, soft-tissue mass in the right chest wall. The mass was successfully treated with surgery. Using histopathology, the tumor was diagnosed and classified as infantile rhabdomyofibrosarcoma. The patient has been followed-up for 2 years and is currently in good condition. The present case demonstrates that early, radical, local surgery and multidisciplinary cooperation were successful for the treatment of rhabdomyofibrosarcoma, and close follow-up highly recommended.

Non-syndromic cleft palate: analysis of TBX22 exon 5 gene mutation.

INTRODUCTION: This study aimed to investigate the mutation of T-box transcription factor TBX22 exon 5 in children with non-syndromic cleft palate. Four mutations in TBX22 exon 5 in X-linked cleft palate with ankyloglossia (CPX) patients had been identified in the previous studies. The study used the syndromic cleft palate susceptibility gene as a candidate gene for more common non-syndromic cleft palate. MATERIAL AND METHODS: A family-based study with parents and their children composing parent-child trios was performed in this research. Twenty children with non-syndromic cleft palate and 38 healthy parents were enrolled. TBX22 exon 5 was examined by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing. The peaks of the sequence diagrams were analyzed using chromas221 and the results of sequencing were proofread using dnastar6.13. The index of the transmission disequilibrium test (TDT) was calculated through McNemar testing. RESULTS: We have not found the presence of any mutation of TBX22 exon 5 reported in syndromic cleft palate patients in references. The index of TDT was 0.56 and showed no statistically significant difference (p<0.05). No TBX22 exon 5 mutation was found in the 20 children. CONCLUSIONS: Mutation of TBX22 exon 5 is not associated with non-syndromic cleft palate in the population of Jiangzhe areas in China.

Successful treatment of Kasabach-Merritt syndrome arising from kaposiform hemangioendothelioma by systemic corticosteroid therapy and surgery.

Kasabach-Merritt syndrome is a rare type of vascular tumor with aggressive behavior in association with thrombocytopenia and consumptive coagulopathy. A standard guideline has not been established to date. A 7-day-old male infant with Kasabach-Merritt syndrome arising from kaposiform hemangioendothelioma was successfully treated with systemic corticosteroid and surgery. Systemic corticosteroid including methylprednisolone was injected intravenously followed by an intralesional injection of compound betamethasone. This approach brought about an excellent response after the first treatment which was maintained long enough to provide us with an opportunity to excise the tumor. Systemic corticosteroid and surgery may be considered an option for Kasabach-Merritt syndrome, although well-designed studies are needed to quantify the benefits and risks of this treatment.

[Relationship of nonsyndromic cleft lip and/or palate and poliovirus receptor-related 1 exon 3 polymorphisms in Han people of Jiangzhe area].

OBJECTIVE: To study the relationship of nonsyndromic cleft lip and/or palate (NSCL/P) and poliovirus receptor-related 1 exon3 (PVRL1exon3) polymorphisms in Han People of Jiangzhe area. METHODS: PVRL1exon3 was examined by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique in the 50 patients with NSCL/P and 85 healthy parents. RESULTS: No W185X mutation was found in the PVRL1exon 3. CONCLUSION: It indicates that there is no relationship between NSCL/P and PVRL1exon3 in Han People in Jiangzhe area.