Table 5.

Recommended Evaluations Following Initial Diagnosis in Individuals with Epidermolysis Bullosa with Pyloric Atresia

System/ConcernEvaluationComment
Cutaneous & mucosal manifestations Eval of blister formation sites incl skin & oral mucosaEndoscopy can be traumatic & should be avoided if possible.
Tracheal manifestations Assess for hoarse cry in infantMay be caused by airway obstruction w/granulation tissue or tracheomalacia 1
Pyloric atresia Surgical referral for those w/manifestations of pyloric atresia
Renal & ureteral anomalies
  • Assess renal function w/serum BUN & creatinine
  • Urinalysis
  • Renal ultrasound
Genetic counseling By genetics professionals 2To inform affected persons & their families about nature, MOI, & implications of EB-PA to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

BUN = blood urea nitrogen; EB-PA = epidermolysis bullosa with pyloric atresia; MOI = mode of inheritance

1.
2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Epidermolysis Bullosa with Pyloric Atresia

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