Hypomelanotic macules: the most frequent and earliest cutaneous sign of tuberous sclerosis.

Abstract

The medical records of 40 children under the age of 13 years suffering from tuberous sclerosis were reviewed and the characteristics of the hypopigmented macules were analyz- ed. The latter were present in all cases, appeared in the first 6 months in 70% of cases, their average number was 6, affecting mainly the trunk and lower limbs. Their shape was in most cases elongate and reminiscent of a tuber or leaf, their outline was regular, their longer side was in most cases 2-4 cm and they were more visible in people with darker skin. Their differential diagnosis was discussed and finally, also on the basis of the literature, a variation of the relevant diagnostic criterion in tuberous sclerosis was proposed.