MIDAS SYNDROME (MICROPHTHALMIA, DERMAL APLASIA AND SCLEROCORNEA) - ANAUTONOMOUS ENTITY WITH LINEAR SKIN DEFECTS WITHIN THE SPECTRUM OF FOCAL HYPOPLASIAS

The MIDAS syndrome (microphthalmia, dermal aplasia, sclerocornea) is a n X-linked dominant entity lethal for hemizygous male embryos. The apl asia of skin is exclusively localized on the face and the neck and fol lows the lines of Blaschko. Unlike the features observed in focal derm al hypoplasia (Goltz syndrome), herniation of fatty tissue is absent. In addition to the 3 main symptoms mentioned above, other anomalies su ch as short stature are often present. We report this syndrome in a mo ther and her daughter who showed strikingly similar features. This fam ily observation confirms the autonomy of MIDAS syndrome. Apparently th is phenotype does not represent a particular form of lyonization of th e gene responsible for focal dermal hypoplasia. The phenotype should a lso be distinguished from Aicardi syndrome that is localized on Xp22.