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
] 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
]. 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
]. 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, pseudosyndactyly of hands and feet (mitten deformities), gastrointestinal tract manifestations[6
Carcinogenesis indicates a major clinical problem for epidermolysis bullosa patients. With increasing age, squamous cell carcinoma (SCC) is a common cause of mortality[7
]. In addition, renal failure is reported as one of the causes of death among patients with RDEB[10
]. We demonstrate a patient with RDEB suffered constipation with fecal impaction and eventually demised of sigmoid colon perforation with peritonitis.