An unusual case of generalized ichthyosis and chondrodysplasia punctata.

Abstract

Chondrodysplasia punctata is a multisystem defect syndrome characterized by transient punctate calcification of cartilage during infancy. Skeletal changes, cataract and ichthyosis are also common. A 16-year-old boy suffering from chondrodysplasia punctata, short stature, symmetric limb shortness, generalized ichthyosis, cicatricial alopecia and bilateral cataracts is reported.