Expanding the phenotypes of congenital hemangiomas

Abstract

Congenital hemangiomas (CH) are benign vascular tumors that are typically defined as having had complete intrauterine development and to be fully formed at birth. They demonstrate several clinical and histologic features that are different from infantile hemangiomas (IH). One of the most characteristic differences is that CH are negative when stained for the immunohistochemical marker GLUT-1. 1 CH can be classified into three subgroups depending on their evolution: rapidly involuting CH (RICH), non-involuting CH (NICH), and partially involuting CH (PICH). Activating mutations in GNAQ and in GNA11 at amino acid position 209 have been identified in both RICH and NICH. Although PICH have not been studied at the molecular level, they are likely to have the same mutations. 2 Recently, several case series of CH with atypical presentations have been reported. 3-6 We present five cases of CH that demonstrated an unusual evolution.

A Case Series of 18 Congenital Haemangiomas: Clinical, Histological and Ultrasound Features, and their Relationship with Complications and Atypical Behaviour

“…Vascular changes manifest as increased telangiectasia or venous prominence and the formation of papules or pyogenic granulomas on the surface (11,18,19). Reports of CHs that increase in size in the months or years after birth (12,(18)(19)(20) have led some authors to propose the term tardive expansion congenital haemangioma (TECH) (12). Atypical changes may be associated with the occurrence of thrombocytopaenia and localized coagulopathy, and have mainly been described in NICH and PICH.…”