Congenital cutis laxa associated with exocrine pancreatic insufficiency. 1981

S A Kocoshis, and J S McGuire, and K Arulananthan, and F J Flynn, and J D Gryboski

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.

UI MeSH Term Description Entries
D008297 Male Males
D010188 Exocrine Pancreatic Insufficiency A malabsorption condition resulting from greater than 10% reduction in the secretion of pancreatic digestive enzymes (LIPASE; PROTEASES; and AMYLASE) by the EXOCRINE PANCREAS into the DUODENUM. This condition is often associated with CYSTIC FIBROSIS and with chronic PANCREATITIS. Pancreatic Insufficiency,Exocrine Pancreatic Insufficiencies,Insufficiencies, Exocrine Pancreatic,Insufficiencies, Pancreatic,Insufficiency, Exocrine Pancreatic,Insufficiency, Pancreatic,Pancreatic Insufficiencies,Pancreatic Insufficiencies, Exocrine,Pancreatic Insufficiency, Exocrine
D003095 Collagen Diseases Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that "collagen" was equivalent to "connective tissue", but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term "collagen diseases" now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494) Collagen Disease,Disease, Collagen,Diseases, Collagen
D003300 Copper A heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55. Copper-63,Copper 63
D003483 Cutis Laxa A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. Cutis laxa is usually a genetic disease, but acquired cases have been reported. (From Dorland, 27th ed) Dermatolysis,Dermatomegaly,Dermatolyses
D004549 Elastin alpha-Elastin,kappa-Elastin,alpha Elastin,kappa Elastin
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths

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