Frequency of congenital anomalies in patients with histiocytosis X.

The frequency of congenital anomalies in 39 cases of histiocytosis X collected over a 30 year period was 23%. Through a retrospective chart review of these cases and two control populations (children with bone tumors and children with suspected child abuse) we sought to assess the significance of this finding as well as any special characteristics of those histiocytic patients who had congenital anomalies. The frequency of congenital anomalies in the histiocytosis X group (23%) was greater than the frequency found in our control groups, the bone tumor group (13%), and the child advocacy control group (15%). Considering only major congenital anomalies, the histiocytic population had an increased frequency (18%) relative to both control groups (3% and 8%, respectively). Only one patient with unifocal eosinophilic granuloma had congenital anomalies. Patients with histiocytosis X and congenital anomalies were more likely to have histiocytosis X involving organ dysfunction (lung, liver, hematopoietic). Through this retrospective study we observe an increased frequency of congenital anomalies in patients with histiocytosis X. This observation does not seem to apply to patients with unifocal eosinophilic granuloma. The presence of congenital anomalies, especially multiple congenital anomalies, seemed to be a prognostic indicator of organ dysfunction in our histiocytic population.