Phacomatosis spilorosea associated with lymphoedema

Abstract

Conflicts of interest: none declared. Sir, Phacomatosis spilorosea represents a distinct type within the group of various forms of phacomatosis pigmentovascularis.1 It is defined by a coexistence of naevus spilus of the macular type and naevus roseus. Until 2005, this phenotype was called phacomatosis pigmentovascularis type IIIa or type IIIb,2 but according to this traditional classification neither component of this phenotype was correctly defined. In our view, the ‘naevus spilus’ does not show any papules, thus being always of the macular type, whereas the associated ‘naevus flammeus’ is in fact not a naevus flammeus but always a naevus roseus. By contrast, phacomatosis caesioflammea is always associated with naevus flammeus, which is why naevus roseus has been proposed to represent a distinct type of vascular naevus.3 It shows throughout life a pale pink colour similar to that of a salmon patch. Here we report a further case of phacomatosis spilorosea. A 12‐year‐old girl had vascular and pigmentary skin changes present since birth. The family history was noncontributory. The parents were healthy, and her two older brothers were likewise healthy. She had been born at term after an uneventful pregnancy. A vascular naevus, initially termed ‘naevus flammeus’, involved large parts of the right side, whereas several patches of a pigmentary naevus arranged in an asymmetrical pattern were present on both sides of her body. Moreover, her right leg appeared to be swollen. The oedematous enlargement was treated with massage and a compression stocking. This therapy was not found to be helpful and was subsequently abandoned.