Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome.

Blau syndrome is a rare, multisystem, autosomal-dominant, and granulomatous disorder caused by susceptibility variants in the NOD2 gene. We describe here a 14-year-old girl with Blau syndrome with incidentally diagnosed renal carcinoma. The index case presented with growth retardation and recurrent symmetric arthritis. Her clinical symptoms included bilateral cataract due to recurrent uveitis, camptodactyly, and persistent erythematous rash with ichthyosis. Her two sisters and her mother were affected with combinations of these conditions-symmetric polyarthritis, uveitis, and skin involvement-suggesting an autosomal dominant trait. The index case developed a chronic renal insufficiency, and an abdominal computerized tomography scan revealed a 2.5-cm mass in the left kidney. The histopathological examination showed renal clear cell carcinoma, chronic tubulointerstitial nephritis,and giant cell granulomas in both the tumor and nonneoplastic renal tissue. Granulomatous inflammation was observed in the skin biopsy specimen. The patient was diagnosed with Blau syndrome based on her family history, uveitis, granulomatous inflammation proved by skin biopsy, and polyarthritis. Sequencing of the NOD2 gene showed a heterozygous p.R334Q mutation in all affected family members. To the best of our knowledge, this is the first reported case of a patient with Blau syndrome accompanied by chronic renal failure and renal carcinoma.

Veno-occlusive disease in a child with rhabdomyosarcoma after conventional chemotherapy: report of a case and review of the literature.

Although veno-occlusive disease of the liver is a well-known complication of high-dose chemotherapy and bone marrow transplantation, it has rarely been observed in children who receive conventional chemotherapy. Most cases in the literature consists of children with Wilms tumor. It has been very uncommon in rhabdomyosarcoma patients until recently, although they commonly receive similar anticancer agents. Here the authors report a 2-year-old boy with rhabdomyosarcoma who developed veno-occlusive disease while receiving VAC (vincristine, actinomycin D, cyclophosphamide) chemotherapy regimen according to the IRS-IV protocol. The patient gradually recovered during 2 weeks with supportive treatment only.

Factors affecting carotid intima media thickness predicts early atherosclerosis in overweight and obese adolescents.

OBJECTIVE: Aims of this study were to compare serum leptin levels, atherosclerotic markers and carotid intima media thickness (IMT) among the overweight, obese and normal weight healthy adolescents and to investigate the association of carotid IMT with leptin and atherosclerotic markers in adolescence. METHODS: Seventy obese-overweight adolescents (27 of them obese, 43 of them overweight) and 72 two normal weight adolescents aged 14-18 years were included in this study. Leptin and homocysteine levels and lipid profiles were determined and carotid IMT were measured in all adolescents. Subjects were evaluated as obese-overweight and normal weight and obese, overweight and normal weight. RESULTS: Carotid IMT was significantly different among the overweight adolescents, obese adolescents and the control group (p < 0.001). Leptin levels were significantly higher in obese-overweight adolescents compared to the control group (p < 0.001). Apolipoprotein (Apo) B levels were significantly higher in obese adolescents than the overweight ones and the control group (p < 0.016). There were significantly positive correlations of carotid IMT with leptin, homocysteine and Apo B levels (p < 0.05, r = 0.33, 0.28, 021, respectively). The factors associated with carotid IMT were leptin and ApoB levels (ß = 0.632, p < 0.04, ß = 0.264, p = 0.019, respectively). CONCLUSION: Subclinical atherosclerosis determined by carotid IMT begins in overweight adolescents. Elevated leptin and Apo B levels are independent predictors of subclinical atherosclerosis. Leptin resistance, which is related to subclinical atherosclerosis, also begins in overweight adolescents. High Apo B levels, which promote development of atherosclerosis are more prominent in obese adolescents than other groups. For these reasons, all necessary precautions should be taken in overweight adolescents to prevent atherosclerosis as well as in obese adolescents.

Childhood Pityriasis rosea inversa without Herald Patch Mimicking Cutaneous Mastocytosis.

BACKGROUND: Pityriasis rosea is a self-limited inflammatory condition of the skin that mostly affects young adults. Several less common atypical presentations have been reported. CASE PRESENTATION: A 6-year old girl with red-brown maculopapular eruption sized 0, 5-1 cm in diameter localized on neck, trunk and popliteal region visited our general pediatric outpatient clinic. The eruption was wide spread especially on flexural areas. After consulting dermatologist skin biopsy was performed. According to clinical and histopathological findings as inverse (flexural) pityriasis rosea was diagnosed. For treatment, systemic antihistamine, topical corticosteroid cream and emollient were applied. The lesions healed in two months. Spontaneous healing of the eruption also confirmed the diagnosis of pityriasis rosea. CONCLUSION: We present this interesting pediatric case to show and discuss pityriasis rosea, atypical presentations, differential diagnosis and the importance of dermatological examination and importance of dermatologic consultation for pediatric patients with skin eruption.