A Case of Phakomatosis Pigmentovascularis

In 1947, Ota et al. first reported a case of phakomatosis pigmentovascularis and defined a subgroup of this disease having a congenital generalized hemangioma and pigmented lesions including a mongolian spot-like lesion, nevus pigmentosus and nevus of Ota. We experienced a case of phakomatosis pigmentovasularis type IIb in a 10-day old male baby, who since birth, had generalized nevus flammeus and blue spots, syndactyly between 2nd and 3rd toes in both feet, and dilated collecting system in left kidney.

One Case of Maffucci's Syndrome with Testicular Teratoma

Maffucci's syndrome is a very rare, congenital and non-hereditary mesodermal dysplasia manifested by multiple enchondromas and soft tissue hemangiomas. Since Maffucci had reported this sysdrome in 1881, there have been more than 100 cases reported, and also there has been reported that Maffuddi's syndrome has various interstitial tumor. However there hasn't been any report about Maffucci's syndrome with testicular teratoma. Here we report in this paper that the patient was diagnosed as Maffucci's syndrome of enchondroma and liver hamangioma and also had testicular teratoma. He was admitted for the evaluation of gynecomatia and diagnosed as enchondroma by bone biopsy of the right rib and tibia. Liver hemangioma was also found through abdominal ultrasonogram, CT scan and liver biopsy. And the testicular teratoma was confirmed through testicular biopsy. He is finally diagnosed as Maffucci's syndrome with testicular teratoma and literatures were reviewed.

A Case of Currarino Triad

Currarino triadis a unique malformation complex of congenital caudal anormalies, including anorectal malformatio (anal stenosis, anal ectopis, imperforated anus), sacral bony abnormality (scimitar or crescentic bony defect, malsegmentation) and presacral mass (meningocele, teratoma, enteric cyst or any combination of these). This triad is familial in at least half of cases and the usual symptomatology is constipation due to anorectal stenosis. The embryogenesis is presumably due to abnormal separation of the neuroectoderm from the endoderm, so this triad is in the spectrum of the split notochord syndrome. We report a case of Currarino triad in 5-month-old female patient who had chronic constipation and abdominal distention with brief review of the related literatures.

A case of transfusion-associated graft-versus-host disease in a preterm infant

Graft-versus-host disease is commonly observed after allogeneic bone marrow transplantation but rarely recognized after transfusion of solid-organ transplantation. Tansfusion-associated graftversus-host disease can occur in immunosuppressed recipients and immunocompetent transplant recipients. The clinical manifestations of gastrointestinal or hepatic dysfunction, rash and pancytopenia should heighten the physician's index of suspicion for GVHD. Among premature infants, only four cases have been reported to develop transfusion-associated graft-versus-host disease in the world, with a mortality rate of 100 percent. We recently experienced a preterm male infant who developed acute GVHD (erythematous maculopapular skin rash, hepatic dysfunction and pancytopenia) at two months of age and recovered with Dexamethasone and supportive treatment. A skin biopsy, which performed on the confluent erythematous maculopapular rashes during the active and healing stage of the skin rash, revealed characteristic features of GVHD. Prematurity may be considered as a risk factor for the development of GVHD possibly related to complicated prolonged illnesses which requires intensive care and multiple transfusions. To our knowledge, this is the first report of survival after transfusionassociated graft-versus-host disease in preterm infants.