Gastrointestinal Manifestations of Epidermolysis Bullosa A Study of 101 Patients

Developmental expression of laminin-5 and HD1 in the intestine: Epithelial to mesenchymal shift for the laminin γ2 chain subunit deposition

“…Although the role of laminin-5 in intestine is not yet defined, the fact that patients affected by junctional epidermolysis bullosa present erosions of the gastrointestinal mucosa argues that it plays a major role in intestinal physiology (Lund et al, 1995). Other manifestations like nutrient malabsorption, constipation, painful bowel movements, and perianal erosions are described (Ergun et al, 1992). The possible involvement of laminin-5 in epithelial cell migration is supported by enhanced expression of laminin-5 in human cancers including colon cancer, where the y2 chain is preferentially located in invasively malignant cells (Pyke et al, 1994).…”

Novel KIND1 Gene Mutation in Kindler Syndrome With Severe Gastrointestinal Tract Involvement

“…Following reports of patients with hereditary epidermolysis bullosa presenting with several of the clinical features of Kindler syndrome, lower gastrointestinal tract complaints are common, especially chronic constipation and perianal blistering. 22 Similar to hereditary epidermolysis bullosa, gastrointestinal tract disease in Kindler syndrome tends to occur more severely during childhood and young adulthood. 23 These observations suggest that, in Kindler syndrome, the specialized gastrointestinal tract mucosa can be impaired by increased functional demands and first-time contact with the environment occurring perinatally and during early childhood.…”

Microstomia: A Rare but Serious Oral Manifestation of Inherited Disorders

“…The condition affects approximately 1 in 50,000 to 1 in 500,000 births and encompasses a group of congenital chronic noninflammatory skin disorders. Their common primary feature is the formation of blisters and erosions at the site of minor mechanical trauma in the skin, mucocutaneous layers of the oral mucosa, and respiratory and digestive tracts (Ergun et al, 1992;Marx&Stern, 2003). Results of the first gene therapy was reported in 2006 by De Luca and colleagues on a patient with generalized junctional epidermolysis bullosa who had compound heterozygous mutations in the β3 chain of laminin 332 (Fine, 2010) .…”