[Familial infantile myofibromatosis]. / Myofibromatose infantile familiale.

BACKGROUND: Infantile myofibromatosis (IM) is the most common fibrous disorder of infancy and childhood. It is characterized by congenital tumours of the skin, striated muscle, bones and viscera. Most cases are sporadic and few familial cases have been reported. PATIENTS AND METHODS: We describe a 5-month-old girl presenting with two congenital nodules. The diagnosis of infantile myofibromatosis was based on clinical and histopathological examination. Surgical excision was performed and there was no relapse at six years. The patient's brother presented multiple nodules and toe necrosis at birth due to infantile myofibromatosis. Two months later, the congenital nodules increased in size and new nodules developed. Surgical excision was performed. At 11 months of age, the boy presented with cranial relapse and bone resorption at P3 of the third right toe. The clinical and radiological investigations were normal. DISCUSSION: Three clinical forms of IM have been described: solitary cutaneous nodules, multiple cutaneous nodules and generalized MI with visceral involvement. The prognosis is good except in generalized MI. All familial cases of MI may be interpreted as autosomal dominant or alternatively there may be genetic heterogeneity. Strict follow-up is recommended to identify potentially life-threatening complications. Spontaneous regression usually occurs but in some cases the treatment of choice is surgical removal.

Hemoglobin normalization results in lower dialysis dose, despite high dialysate flow. Single needle offers inadequate dialysis.

Anemia correction by erythropoietin favorably affects dialysis outcome but may also reduce dialysis efficiency increasing morbidity and mortality. Single needle dialysis (SN) and high dialysate flow (DF) are dialysis variations. We studied the effect of hemoglobin (Hb) normalization on dialysis adequacy under high DF. We also compared double needle (DN) and SN dialysis efficiency. Seventeen stable anuric patients (13 M, 4 F), aged 62 (40-90), on hemodialysis for 48 months (8-204), were studied in two, 6 months apart, periods of low (A) and high Hb (B), during a midweek 4 h dialysis with DN and SN. DF was 500 in A and 800 ml/min in B. Rebound urea samples, 20 min post dialysis, were used for computer calculated double pool urea kinetics. Hb levels were 128 +/- 8 g/L (B) vs. 119 +/- 14 g/L (A), P < 0.03. Despite the use of higher DF less dialysis was delivered in B vs. A, under DN or SN (DN: URR 64.8 +/- 5.8 vs. 69.7 +/- 5.2%, Kt/Vequil. 1.09 +/- 0.19 vs. 1.26 +/- 0.21, nPCR 1.37 +/- 0.29 vs. 1.60 +/- 0.36g/kg/day, changes <0.001, SN: URR 49.7 +/- 7.5% vs. 52.6 +/- 8.8%, Kt/Vequil. 0.74 +/- 0.16 vs. 0.82 +/- 0.23, nPCR 1.05 +/- 0.33 vs. 1.20 +/- 0.31, changes NS). SN was found significantly (P < 0.001) less efficient than DN in A and B. Serum creatinine drop was significantly (P < 0.001) less in both periods with SN vs. DN. Hb (SN in B) correlated inversely to Kt/V (r = -0.5705, P < 0.02) and URR (r = -0.6432, P = 0.005). Hb correction to normality is associated with a decrease in dialysis efficiency. The use of high dialysate flow does not compensate for this loss. SN delivers inadequate dialysis independently of dialysate flow or hemoglobin concentration.