Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome)

The hypertrichosis cubiti also named "hairy elbow syndrome" is a benign anomaly which occurs as an isolated sign but sometime it may be associated with others abnormalities including short stature, facial dysmorphism, developmental delay and bone anomalies.

The Authors report on a girl 8 years old, who showed a classical hypertrichosis cubiti, tufts of peluria in the thoraco lumbar region, moderate scoliosis and bilateral large big toes. In correspondence with the tufts of spinal peluria the MRI displayed areas of syringomyelia.

A review of the cases of hypertrichosis cubiti associated to spine and bone anomalies is reported. This is the first report of the association of hypertrichosis cubiti with syringomyelia and large big toes. The presence of peluria in the elbow and/or in the thoraco lumbar region may be a clue of malformations of spine and bone. In conclusion the HC may be a simply aesthetic, benign anomaly, but may be also a clue of malformations affecting many organs including the spine and skeletal tissue.