Rare case of Kaposiform hemangioendothelioma presented with raynaud phenomenon- A report.
Kaposiform hemangioendothelioma, or KHE, is a rare vascular tumor affecting infants or young children. It is usually infiltrative growing soft tissue mass located on the skin surface or deeper in the extremities, torso and cervicofacial region. There needs to be more data available on the incidence of KHE. Croteau et al. reported that Massachusetts's annual prevalence and incidence rates were 0.91 and 0.071 cases per 100,000 children, respectively.
Lingke Liu and colleagues have described the first case of KHE presenting with thrombocytopenia and Raynaud phenomenon, which may be associated with increased endothelin-1 ( ET-1 ) and reduced eNOS and A20 expressions. This report is published in BMC Pediatrics.
It is already known that KHE is a rare vascular neoplasm affecting infants or young children. The lesions may range from small and superficial tumors to large and invasive lesions with Kasabach-Merritt phenomenon (KMP). No studies have reported KHE presenting as thrombocytopenia and Raynaud phenomenon.
Case presentation:
A 2-year-old male child was admitted to the hospital with right-hand swelling and thrombocytopenia. The right hand exhibited swelling and redness, sometimes cyanotic, which worsened in cool environments and improved with warming. Based on blood report results, Platelet counts were between 50 ~ 80 × 10^9/L. On admission, a physical examination revealed swelling and frostbite-like rash on the right hand fingers. The skin temperature was lower on the right hand compared to the left. Chest CT results on day 3 of admission showed an irregular mass on the right side of the spine.
A puncture biopsy confirmed the diagnosis of KHE based on positive CD31, D2-40, and FLI1 immunohistochemical staining but negative GLUT1 staining. ET1 expression levels significantly increased, while eNOS and A20 expression levels significantly decreased compared to control patients. The patient received methylprednisolone and sirolimus treatments, and his condition improved during follow-up.
They said we reported the first case of KHE presenting as thrombocytopenia and Raynaud's phenomenon. The appearance of Raynaud's phenomenon in this patient may be related to increased ET-1 and decreased eNOS and A20 expression. The range of clinical presentations can make diagnosing pediatric KHE more challenging. Therefore, it is essential to carefully consider the differential diagnosis of hidden KHE in children with a history of thrombocytopenia and Raynaud's phenomenon.
Reference:
Liu, L., Gu, W., Teng, L. et al. Kaposiform hemangioendothelioma presented with Raynaud phenomenon: a case report. BMC Pediatr 23, 574 (2023). https://doi.org/10.1186/s12887-023-04407-1
