Cystic angiomatosis in child: clinical experience and review of literatures

Abstract

Background: Cystic angiomatosis is a rare disease characterized by the proliferation of vascular and lymphatic channels lined by a single layer of endothelial cells. Here, we reported a child of cystic angiomatosis with multifocal lesion in bone, who was diagnosed by biopsy surgery and evaluated by whole exome sequencing. Case Description: In this case presentation, we report a case of 11-year-old boy who had the pain in chest. Computed tomography revealed the multiple lytic of bone in ribs, clavicle, vertebra thoracalis, skull, mandibula, shoulder blade and so on. Blood test showed that ALP was 393U/L with the normal of 20–110 U/L and VEGF was 287.26 pg/ml with the normal of 0-142 pg/ml. The patient was performed by the biopsy surgery in ribs and diagnosed of cystic angiomatosis by pathological examination. The whole exome sequencing showed the single nucleotide substitutions in the coding region including BRIP1, CHEK2, GRM4, and MUC16. Besides, the up-regulated genes were involved of CASC15, CENPF, ABCA13, ALK, BLM, FGFR3.Conclusions: In this article, we report a rare case of cystic angiomatosis in a child with multiple lesions of bone and abnormal VEGF and ALP in peripheral blood examination. Then, the whole exome sequencing could be performed in order to explore the potential molecular mechanism in the development of cystic angiomatosis.