Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis).

The article discusses the molecular and clinical correlation of three cases of chondrodysplasia punctata, including a new mutation. A baby girl was born with a thickened and diffusely red integument with greyish scales that had patterned arrangement following the lines of Blaschko. A neonatal examination revealed erythematous and ichthyosiform lesions with follicular keratosis following the lines of Blaschko. Biochemical analysis revealed normal values for all peroxicomal parameters.