Skin manifestations of Conradi's disease. Chondrodystrophia congenita punctata

Abstract

Chondrodystrophia congenita punctata (Conradi''s disease) is a multisystem defect usually seen within the first six to nine months of life. The skin findings are important to the dermatologist, for he may recognize the syndrome and point out the potential defects in other vital systems. Conradi''s disease should be considered as a possible differential diagnosis in the newborn whenever a diagnosis of congenital icthyosiform erythrodermaor congenital icthyosis is made. The following features can easily be seen on careful physical examination, and should alert the physician to further work-up: hyperkeratotic whirl and swirl patterns on the skin with underlying erythema, skeletal defects (shortening of humerus and femur), flexion albows and knees with resistance to passive extension, opacities of the lens, high-arched palate, flat-bridged nose, and stippled epiphyses on X-ray examination.