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 erythroderma or congenital icthyosis is made. The features listed below 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 elbows and knees with resistance to passive extension
Opacities of the lens
Stippled epiphyses on x-ray examination.
BODIAN EL. Skin Manifestations of Conradi's Disease: Chondrodystrophia Congenita Punctata. Arch Dermatol. 1966;94(6):743–748. doi:10.1001/archderm.1966.01600300067015
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