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Chondrodystrophia Congenita Punctata

EUGENE L. BODIAN, MD

Arch Dermatol. 1966;94(6):743-748.

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 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.

1. Hyperkeratotic whirl and swirl patterns on the skin with underlying erythema
   
2. Skeletal defects (shortening of humerus and femur)
   
3. Flexion elbows and knees with resistance to passive extension
   
4. Opacities of the lens
   
5. High-arched palate
   
6. Flat-bridged nose
   
7. Stippled epiphyses on x-ray examination.
   

Author Affiliations
NEW YORK

From North Shore Hospital, Manhasset, LI, and Skin and Cancer Unit, New York University Bellevue Medical Center.

Footnotes
Accepted for publication Aug 12,1966.

Read before the Noah Worcester Dermatologic Society, March 28-April 3, 1965, Scottsdale, Ariz.

Reprint requests to 45 N Station Plaza, Great Neck, NY 11021.

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