This post is an answer to the Case – Pink Plaques in a Healthy Infant
The plaques were consistent with a vascular malformation. In infancy, such diffuse skin lesions usually result from venous malformations. Common venous malformations usually affect the muscles and joints of the lower limbs, head, and neck.
Blue rubber bleb naevus syndrome usually affects the upper limbs and trunk and is associated with gastrointestinal lesions.
Glomuvenous malformations affect the limbs and back, with no extracutaneous involvement. Unlike common venous malformations and blue rubber bleb naevus, glomuvenous malformations have a hyperkeratotic cobblestone-like appearance, are not completely emptied by compression, and tend to become painful.
Total body MRI showed several varicosities in the subcutaneous tissue of the back but no extracutaneous lesion. The diagnosis of glomuvenous malformation was confirmed by examination of a biopsy sample, which showed dilated and irregular vascular channels lined by layers of glomus cells that stained positively for smooth muscle α-actin.
Laser therapy at 6 months old greatly reduced the lesions in size and colour. At last follow-up the baby was well and had no new lesions.
Plaque-type glomuvenous malformation can be sporadic or familial. Relatives of the affected individual often have minor lesions, such as one small nodule. The plaques usually appear during the first month of life, grow rapidly, and enlarge to involve adjacent areas, although new lesions can present at different sites during development or after trauma in previously unaffected areas. Plaque-type glomuvenous malformations are limited to the skin, but can be a cause of concern to parents and are often a diagnostic challenge for physicians.
