Epidermolysis Bullosa—Pyloric Atresia

Generalized Atrophic Benign Epidermolysis Bullosa in 2 Siblings Complicated by Multiple Squamous Cell Carcinomas

“…The occurrence of bladder carcinoma in this patient is noteworthy because the involvement of transitional cell epithelium of the urinary tract is known to occur in patients with junctional EB, and bullae formation and erosions of bladder epithelium have been reported. 36,37 In contrast to the patient described by Parker et al, 34 in whom only 1 of the SCCs developed in lesional skin, all tumors occurring in our patients grew in atrophic or scarred lesional skin.…”

Jenctlonal Epidermolysis Bullosa, Pyloric Atresia, and Genitourinary Disease

“…In contrast, in patients with concurrent JEB and pyloric atresia, associated genitourinary disease may be a serious problem (1,4). In these children, as in our patient, extensive erosions, edema, and fibrosis of the bladder resulted in ureteral obstruction at the UVJ and subsequent hydroureteronephrosis.…”

“…In several case reports describing EB dystrophia with pyloric atresia, the diagnosis was based on cUnical features (9,11). In contrast, our patient is the seventh reported case in which EM disclosed junctional disease (1)(2)(3)(4)(5). It is unlikely that JEB and pyloric atresia, two rare autosomal recessive disorders, would be noted concurrently by chance alone.…”

“…Several reports described the association of JEB and pyloric atresia (1)(2)(3)(4). In addition, at least three patients with this association had severe genitourinary disease; aU died in early infancy (1,5). We report a 4'A-year-old male with JEB, corrected pyloric atresia, and severe genitourinary tract disease secondary to recurrent bilateral obstruction of the ureterovesical junction (UVJ).…”

Isolated Deficient α6β4 Integrin Expression in the Gut Associated with Intractable Diarrhea

“…Diarrhea was reported in a few patients with PA‐JEB (18‐21). In one of them, the gastrointestinal changes were more severe than the skin lesions and were comparable to those observed in our patient (18).…”