Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency in a Patient with Crohn’s Disease

Pseudoxanthoma elasticum (PXE)-like disorder with multiple coagulation factor deficiency is a genetic disease characterized by dystrophic mineralization of the connective tissue in multiple organs such as the skin, arteries, and retina. Patients with this disorder have excessive folding and sagging of the skin with loss of recoil, as well as coagulopathy. Crohn’s disease is a chronic inflammatory condition of the gastrointestinal tract, which primary affects the small intestine, often leading to malnutrition. Here, we describe the case of a 25-year-old woman who presented with these diseases. We found that nutrient deficiency due to long-term Crohn’s disease aggravated the coagulopathy associated with PXE-like disorder. (Korean J Med 2015;89:474-477)

[1]  S. Lal,et al.  Nutritional management of Crohn’s disease , 2013, Therapeutic advances in gastroenterology.

[2]  J. Uitto,et al.  Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms , 2009, Experimental dermatology.

[3]  J. Uitto,et al.  Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-). , 2007, Biochemical and biophysical research communications.

[4]  S. Terry,et al.  Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. , 2007, The Journal of investigative dermatology.

[5]  P. Calvas,et al.  Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations , 2005, Journal of Medical Genetics.

[6]  B. Thapa,et al.  Pseudoxanthoma elasticum: a rare cause of recurrent gastrointestinal bleeding in a child. , 2004, Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology.

[7]  L. Schurgers,et al.  Low serum and bone vitamin K status in patients with longstanding Crohn's disease: another pathogenetic factor of osteoporosis in Crohn's disease? , 2001, Gut.

[8]  M. Shearer,et al.  Role of vitamin K and Gla proteins in the pathophysiology of osteoporosis and vascular calcification , 2000, Current opinion in clinical nutrition and metabolic care.

[9]  G. Spinzi,et al.  Pseudoxanthoma elasticum: a rare cause of gastrointestinal bleeding. , 1996, The American journal of gastroenterology.

[10]  R. Russell,et al.  The prevalence of vitamin K deficiency in chronic gastrointestinal disorders. , 1985, The American journal of clinical nutrition.