Death from colonic disease in epidermolysis bullosa dystrophica

We demonstrate a male patient with RDEB. He suffered megacolon due to fecal impaction and died from sigmoid colon perforation with peritonitis at age 35 years.Constipation is a common clinical feature of RDEB, but fetal complications of chronic constipation are rarely reported. To the author's best knowledge, it has not been reported or recognized in the English literature previously. The aggressive assessment of constipation with fecal impaction is recommended in patients with RDEB.Epidermolysis bullosa (EB) encompasses a group of heritable skin disorders manifesting with easy blistering and erosions as a result of minor trauma to the skin. Evaluations of epidemiology of EB in other countries [1-5] were reported. In U.S., the special report of the large size American population for inherited EB was studied[6].The extracutaneous manifestations are clinically diversified, including respiratory, gastrointestinal, and vesicourinary tract incolvement[6,7]. The dystrophic forms are characterized by tissue cleavage below the lamina densa on the dermal side of the cutaneous basement membrane zone at the level of the anchoring fibrils resulting from mutations in COL7A1, the gene encoding type VII collagen[6-9]. The site and specific nature of the underlying mutation determine the clinical phenotype.In 2000, Dr. Gau-Tyan Lin had identified a homozygous intronic splice-site mutation at the +1 position of intron 5 (682+1G→A) of COL7A1 in the family of this patient with recessive dystrophic epidermolysis bullosa (RDEB). Consanguinity was noted to be a significant factor of the severe inherited disease[9].The clinical course of recessive dystrophic epidermolysis bullosa (RDEB) is characterized by generalized skin distribution with early onset at birth, severe blisters, milia, atrophic scarring, dystrophic or absent nails, and repetitive skin infection. The extracutaneous involvements comprise oral ulcers, dental problems, anemia, growth retardation, sparse scalp hair or alopecia