Maffucci syndrome is a congenital, non-hereditary mesodermal dysplasia manifested by multiple enchondromas and hemangiomas. It is associated with diverse secondary musculoskeletal deformities, which is exceedingly rar...Maffucci syndrome is a congenital, non-hereditary mesodermal dysplasia manifested by multiple enchondromas and hemangiomas. It is associated with diverse secondary musculoskeletal deformities, which is exceedingly rare. We report a case of hemangiomas and enchondromas localized in the unilateral limb in a patient with Maffucci syndrome. Treatment consists of orthopedic and surgical intervention to minimize deformities and for cosmetic purpose. Careful surveillance for malignant degeneration of both skeletal and non-skeletal tumors, especially in the brain and abdomen, is essential.展开更多
BACKGROUND Blue rubber blister nevus syndrome(BRBNS)is a congenital,rare disease charac-terized by venous malformations of the skin and internal organs,affecting all systems throughout the body.The pathogenesis is unk...BACKGROUND Blue rubber blister nevus syndrome(BRBNS)is a congenital,rare disease charac-terized by venous malformations of the skin and internal organs,affecting all systems throughout the body.The pathogenesis is unknown.There is no con-sensus on the treatment of BRBNS.Most of the previously reported cases were mild to moderate with a good prognosis,and this case was a critically ill patient with severe gastrointestinal hemorrhage,disseminated intravascular coagulation(DIC),and severe joint fusion that was different from previously reported cases.CASE SUMMARY An 18-year-old man with early onset of BRBNS in early childhood is reported.He presented with recurrent melena and underwent malformed phlebectomy and partial jejunectomy and ileal resection.The patient had melena before and after surgery.After active treatment,the patient's gastrointestinal bleeding improved.This was a case of atypical BRBNS with severe gastrointestinal bleeding and severe joint fusion,which should be differentiated from other serious joint lesions and provide clinicians with better understanding of this rare disease.CONCLUSION This case of critical BRBNS with gastrointestinal hemorrhage,DIC and severe joint fusion provides further understanding of this rare disease.展开更多
文摘Maffucci syndrome is a congenital, non-hereditary mesodermal dysplasia manifested by multiple enchondromas and hemangiomas. It is associated with diverse secondary musculoskeletal deformities, which is exceedingly rare. We report a case of hemangiomas and enchondromas localized in the unilateral limb in a patient with Maffucci syndrome. Treatment consists of orthopedic and surgical intervention to minimize deformities and for cosmetic purpose. Careful surveillance for malignant degeneration of both skeletal and non-skeletal tumors, especially in the brain and abdomen, is essential.
文摘BACKGROUND Blue rubber blister nevus syndrome(BRBNS)is a congenital,rare disease charac-terized by venous malformations of the skin and internal organs,affecting all systems throughout the body.The pathogenesis is unknown.There is no con-sensus on the treatment of BRBNS.Most of the previously reported cases were mild to moderate with a good prognosis,and this case was a critically ill patient with severe gastrointestinal hemorrhage,disseminated intravascular coagulation(DIC),and severe joint fusion that was different from previously reported cases.CASE SUMMARY An 18-year-old man with early onset of BRBNS in early childhood is reported.He presented with recurrent melena and underwent malformed phlebectomy and partial jejunectomy and ileal resection.The patient had melena before and after surgery.After active treatment,the patient's gastrointestinal bleeding improved.This was a case of atypical BRBNS with severe gastrointestinal bleeding and severe joint fusion,which should be differentiated from other serious joint lesions and provide clinicians with better understanding of this rare disease.CONCLUSION This case of critical BRBNS with gastrointestinal hemorrhage,DIC and severe joint fusion provides further understanding of this rare disease.
