Lipoid proteinosis of the small bowel

We describe a 65-year-old-man who presented with acute gastrointestinal bleeding secondary to massive submucosal deposits of hyaline material in the small bowel. The histochemical and ultrastructural features of the hyaline substance were typical of lipoid proteinosis, a rare cutaneous disorder in which, to our knowledge, symptomatic compromise of internal organs has not been described previously. The patient was later found to have mild but characteristic mucocutaneous lesions of lipoid proteinosis, as well as asymptomatic deposits in other gastrointestinal sites. Our case documents that severe visceral involvement may occur in lipoid proteinosis, even in previously undiagnosed patients with mild cutaneous manifestations of the disease.