[Nephroblastoma and xeroderma pigmentosum: A rare association].

BACKGROUND

Xeroderma pigmentosum (XP) is a rare, genetically heterogeneous, autosomal recessive disorder, more common in cases of consanguinity. The basic defect underlying the clinical manifestations is a nucleotide excision repair defect leading to the defective repair of DNA damaged by ultraviolet (UV) radiation. XP is characterized by a high incidence of skin cancer on exposed regions.

METHODS

We report the case of a 5-year-old boy, followed for xeroderma pigmentosum since the age of 4 years. His sister also has the same anomaly. He presented an abdominal mass revealed by abdominal pain and vomiting. Radiological examinations revealed a nephroblastoma with lung metastases. He received primary chemotherapy for six cycles (vincristine, and actinomycin-d adriamycin), then surgery with ureteronephrectomy. Pathological examination of the nephrectomy specimen confirmed the diagnosis of Wilms tumor with a diffuse anaplastic component reaching 50%. The patient was treated according to the GFAOP stage III protocol, with high histological risk. The outcome was favorable but complicated by renal failure due to the toxicity of the treatment. He is currently in complete remission at 1 year from the end of treatment.

CONCLUSIONS

The association of xeroderma pigmentosum and nephroblastoma is a rare combination. This case illustrates the problem of management of both severe and difficult conditions.