Table 6. [Treatment of Manifestations in Individuals with Epidermolysis Bullosa with Pyloric Atresia]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Mucosal involvement (incl tracheal & gastrointestinal)	Decisions about tracheostomy should involve family & consider medical condition of infant.	Poor prognosis & severe pain warrants discussion w/family & hospital ethics committee to determine type of intervention & comfort care to provide. ¹
Consult w/dietitian or nutritionist if there is significant mucosal blistering in mouth preventing adequate oral intake. Consider placement of gastrostomy. Evaluate & treat protein-losing enteropathy.	Additional nutritional support incl gastrostomy tube feeding when necessary Maintenance of tracheostomy & gastrostomy can be difficult due to fragile skin.
Skin	Minimize new blister formation by: Teaching caretakers proper handling of infants & children to protect skin from shearing forces; Wrapping & padding extremities; Use of soft & properly fitted clothing & footwear.
New blisters should be lanced & drained to prevent further spread from fluid pressure. In most cases, dressings for blisters involve three layers: ² A primary nonadherent contact layer that does not strip top layers of epidermis. Tolerance to different primary layers varies. Primary layers include: dressings impregnated w/emollient (e.g., petrolatum, topical antiseptic); nonstick products (e.g., Telfa^®, N-Terface^®); silicone-based products w/o adhesive (e.g., Mepitel^®, Mepilex^®); additional topical antibiotic or antiseptic (e.g., bacitracin, mupirocin, silver, honey). A secondary layer that provides stability for primary layer & adds padding to allow more activity, such as rolls of gauze (e.g., Kerlix^®, Conform^®) A tertiary layer that usually has some elastic properties & ensures integrity of dressing (e.g., Coban^® or elasticized tube gauze of varying diameters such as BandNet^® or Tubifast^®).
Treatment of wound infection using antibiotics & antiseptics Appropriate footwear & physical therapy are essential to preserve ambulation in children w/delays or difficulty walking due to blistering &/or hyperkeratosis.
Gastrointestinal	Surgical intervention to correct pyloric atresia Gastrostomy if indicated Evaluate & treat protein-losing enteropathy.
Renal & ureteral anomalies	Referral to urologist if there are symptoms of difficulty or discomfort w/voiding Referral to nephrologist if renal function studies &/or urinalysis are abnormal
Fluid/electrolyte/ nutritional deficiencies	Fluid replacement as needed Calcium & vitamin D supplementation to prevent osteopenia Zinc supplementation for wound healing ³ Supplementation of carnitine, selenium, vitamin A as indicated based on laboratory studies Oral or intravenous iron infusions & red blood cell transfusions as needed for chronic anemia
Ocular symptoms	Treatment of corneal abrasions per ophthalmologist
Social/Family	Psychosocial support, incl social services & psychological counseling ⁴ Palliative care consultation ⁵

Manifestation/Concern

Treatment

Considerations/Other

Mucosal involvement (incl tracheal & gastrointestinal)

Decisions about tracheostomy should involve family & consider medical condition of infant.

Poor prognosis & severe pain warrants discussion w/family & hospital ethics committee to determine type of intervention & comfort care to provide. ¹

Consult w/dietitian or nutritionist if there is significant mucosal blistering in mouth preventing adequate oral intake.
Consider placement of gastrostomy.
Evaluate & treat protein-losing enteropathy.

Additional nutritional support incl gastrostomy tube feeding when necessary
Maintenance of tracheostomy & gastrostomy can be difficult due to fragile skin.

Skin

Minimize new blister formation by:

Teaching caretakers proper handling of infants & children to protect skin from shearing forces;
Wrapping & padding extremities;
Use of soft & properly fitted clothing & footwear.

New blisters should be lanced & drained to prevent further spread from fluid pressure. In most cases, dressings for blisters involve three layers: ²

A primary nonadherent contact layer that does not strip top layers of epidermis. Tolerance to different primary layers varies. Primary layers include: dressings impregnated w/emollient (e.g., petrolatum, topical antiseptic); nonstick products (e.g., Telfa^®, N-Terface^®); silicone-based products w/o adhesive (e.g., Mepitel^®, Mepilex^®); additional topical antibiotic or antiseptic (e.g., bacitracin, mupirocin, silver, honey).
A secondary layer that provides stability for primary layer & adds padding to allow more activity, such as rolls of gauze (e.g., Kerlix^®, Conform^®)
A tertiary layer that usually has some elastic properties & ensures integrity of dressing (e.g., Coban^® or elasticized tube gauze of varying diameters such as BandNet^® or Tubifast^®).

Treatment of wound infection using antibiotics & antiseptics
Appropriate footwear & physical therapy are essential to preserve ambulation in children w/delays or difficulty walking due to blistering &/or hyperkeratosis.

Gastrointestinal

Surgical intervention to correct pyloric atresia
Gastrostomy if indicated
Evaluate & treat protein-losing enteropathy.

Renal & ureteral anomalies

Referral to urologist if there are symptoms of difficulty or discomfort w/voiding
Referral to nephrologist if renal function studies &/or urinalysis are abnormal

Fluid/electrolyte/
nutritional deficiencies

Fluid replacement as needed
Calcium & vitamin D supplementation to prevent osteopenia
Zinc supplementation for wound healing ³
Supplementation of carnitine, selenium, vitamin A as indicated based on laboratory studies
Oral or intravenous iron infusions & red blood cell transfusions as needed for chronic anemia

Ocular symptoms

Treatment of corneal abrasions per ophthalmologist

Social/Family

Psychosocial support, incl social services & psychological counseling ⁴
Palliative care consultation ⁵

From: Epidermolysis Bullosa with Pyloric Atresia

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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