Congenital cutis laxa associated with exocrine pancreatic insufficiency.
We report a patient who has congenital cutis laxa and exocrine pancreatic insufficiency. Collagen analysis has provided evidence for defective elastin cross linking, possibly related to a mild copper deficiency. Connective tissue anomalies, in the presence of poor growth and/or symptoms of malabsorption should alert the physician to investigate pancreatic function. Adequate replacement of pancreatic enzymes will result in normal growth and development.
D000293:Adolescent; D003095:Collagen Diseases / Q000150:complications; D003300:Copper / Q000172:deficiency; D003483:Cutis Laxa / Q000150:complications / Q000151:congenital*; D004549:Elastin; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications*; D006801:Humans; D008297:Male
D003300:Copper; D004549:Elastin