Hemangioma tufted D18.01

Nakagawa, 1949; Macmillan, 1971

Variant of lobular capillary hemangioma with tufted angioma nodules without tendency to spontaneous regression. The "tufted angioma" has the same growth pattern and dignity as the"caposiform hemangioendothelioma", i.e. it is a semi-malignant locally aggressive growing vascular tumor (slightly less local aggressiveness). It may transform into a caposiform hemangioendothelioma .

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

Lim YH et al.(2019), however, identified a somatic activating GNA14 mutation underlying the tufted hemangioma associated with Kasabach-Merritt syndrome.

Note: The GNA14 gene (GNA14 stands for G protein subunit alpha 14) is a protein-coding gene located on chromosome 9q21.2. The GNA14 gene encodes a member of the guanine nucleotide-binding or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits.

Predominantly congenital or acquired in the first years of life, more rarely occurring later in life or during pregnancy (in this case spontaneous regression after birth) or under immunosuppressive therapy (e.g. after liver transplantation). Multiple tufted angiomas may be associated with Kasabach-Merritt syndrome.

Onset with multiple, small, smooth-surfaced, red, soft papules that slowly enlarge and persist at a certain size. Frequently accompanied by painfulness and hyperhidrosis (about 30% of cases). Spontaneous regression is extremely rare.

Multicentric pattern of nodular, mostly solid capillary, roundish-oval vascular convolutes, which penetrate the entire dermis, possibly also the subcutis, in a cluster-like manner (cannonball pattern). Capillary vascular clusters partially surrounded by crescentic vascular clefts. Endothelial atypia, papillae (multilayering) absent. Only scattered mitoses.

Immunohistology: positive for CD31 and Glut-1.

Rambhia KD et al. (2016): An 18-year-old female presented with multiple red, raised, completely painless nodules and PLaques on her neck that she had had since the age of eight. There was no history of trauma, bleeding from the lesions or excessive sweating. There was no family history of similar complaints. Skin examination revealed multiple erythematous and skin-colored nodules and plaques on the neck (see Figure 1). The lesions were firm, non-tender, non-compressible and warm on palpation. Systemic examination revealed no abnormalities.

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