Plaque-type glomuvenous malformations in a child

Abstract

In July, 2014, a healthy 1-month-old boy attended for evaluation of lesions on his back that had been present since birth. He had no relevant family history. On examination he had pink plaques on his back with central bluish colouration and depression and some prominent ectatic vessels, surrounded by a dusky halo (fi gure). The plaques were soft, poorly compressible, painless, and more prominent during crying. Musculoskeletal examination was normal, as were blood count, liver enzymes, renal function, and coagulation. The plaques were consistent with a vascular malformation. In infancy, such diff use skin lesions usually result from venous malformations. Common venous malformations usually aff ect the muscles and joints of the lower limbs, head, and neck. Blue rubber bleb naevus syndrome usually aff ects the upper limbs and trunk and is associated with gastrointestinal lesions. Glomuvenous malformations aff ect 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 confi rmed 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 (fi gure). Laser therapy at 6 months old greatly reduced the lesions in size and colour. At last follow-up in March, 2015, the baby was well and had no new lesions. Plaque-type glomuvenous malformation can be sporadic or familial. Relatives of the aff ected individual often have minor lesions, such as one small nodule. The plaques usually appear during the fi rst month of life, grow rapidly, and enlarge to involve adjacent areas, although new lesions can present at diff erent sites during development or after trauma in previously unaff ected 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.