Angioma, Tufted

Description

Tufted angioma is a rare benign vascular lesion that predominantly affects children under 5 years of age but may occur in adulthood. Some cases of tufted angioma have been reported in the mother during pregnancy, whereas in other cases the tufted angioma may be congenital. The lesions occur predominantly on the neck, shoulders, and trunk and appear histologically in a 'cannonball' distribution of rounded nodules or tufts of capillary-sized vessels in the dermis, with lymphatic vessels present at the periphery. The natural history is slow progressive growth, after which it tends to remain stable in size. Regression has been reported in some cases. Tufted angioma should be distinguished from kaposiform hemangioendothelioma (KHE). Multiple tufted angioma and KHE may be associated with Kasabach-Merritt syndrome (141000), which is characterized by severe thrombocytopenia and consumption of coagulation factors (summary by Tille et al., 2003).

Clinical Features

Tille et al. (2003) described a family with a 2-year-old boy with a single tufted angioma and 4 relatives with single lesions in 5 generations. The proband presented with a red exophytic lesion on the upper left back that was not present at birth. Histologic studies of the lesion in the proband demonstrated the existence of both blood and lymphatic vascular elements.

Clinical Management

Tille et al. (2003) stated that because the tufted angioma lesions are stable and can regress spontaneously, no treatment is recommended. Surgical excision or interferon-alpha (147660) treatment may be required to reduce the mass.

Inheritance

Heagerty et al. (1992) reported a patient with tufted angioma who had a strong family history of similar lesions in a pattern suggesting a monogenic, autosomal dominant predisposition.

The transmission pattern of tufted angioma in the family reported by Tille et al. (2003) was consistent with autosomal dominant inheritance with reduced penetrance.

Mapping

In a preliminary analysis, Tille et al. (2003) found that 3 candidate genes, KDR (191306), ENG (131195), and FLT4 (136352), were compatible with linkage, with haplotypes being shared between 3 affected individuals and the 1 obligate carrier available for testing.