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Epidermolysis Bullosa with Pyloric Atresia.

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GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Feb 22 [updated 2017 Sep 7].

Author information

1
Director, EBDx Program, GeneDx, Inc, Gaithersburg, Maryland
2
Director, Cincinnati Children's Epidermolysis Bullosa Center, Cincinnati Children's Hospital, Cincinnati, Ohio

Excerpt

CLINICAL CHARACTERISTICS:

Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder). The course of EB-PA is usually severe and often lethal in the neonatal period. Most affected children succumb as neonates; those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of EB include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, contractures, and dilated cardiomyopathy.

DIAGNOSIS/TESTING:

The diagnosis of EB-PA is established in a proband with characteristic clinical findings by molecular genetic testing that identifies biallelic pathogenic variants in one of the genes associated with EB-PA: ITGA6 (~5% of EB-PA), ITGB4 (~80%), or PLEC (~15%). Skin biopsy using transmission electron microscopy (TEM) and/or immunofluorescent antibody/antigen mapping can be performed but is no longer the preferred method of diagnosis.

MANAGEMENT:

Treatment of manifestations: Lance and drain new blisters and dress with three layers (primary: nonadherent; secondary: for stability and protection; tertiary: elastic properties to insure integrity); protect skin from shearing forces; teach caretakers proper handling of infants and children; surgical intervention to correct pyloric atresia; standard treatment for gastroesophageal reflux disease; nutrition consultation to address oral intake and nutritional needs; referral to urology and/or nephrology for renal anomalies and abnormal renal function; tracheostomy when indicated for respiratory failure; psychosocial support, including social services and psychological counseling. Prevention of primary manifestations: Minimization of new blister formation by wrapping and padding of extremities, use of soft and properly fitted clothing and footwear, avoidance of contact with adhesives and of contact sports and other activities that create friction. Prevention of secondary complications: Antibiotics and antiseptics to prevent wound infections; attention to fluid and electrolyte balance; additional nutritional support including a feeding gastrostomy when necessary; calcium, vitamin D, zinc, selenium, carnitine, and iron supplements as indicated. Surveillance: Annual screening for anemia and zinc, vitamin D, and other nutritional deficiencies; periodic echocardiographic screening for dilated cardiomyopathy; bone mineral density scanning for detection of osteopenia and/or osteoporosis. Agents/circumstances to avoid: Shearing forces on the skin; ordinary medical tape or Band-Aids®; poorly fitting or coarse-textured clothing and footwear. Pregnancy management: Consider cesarean section to reduce trauma to the skin of an affected fetus during delivery.

GENETIC COUNSELING:

EB-PA is inherited in an autosomal recessive manner. The parents of an affected child are usually obligate heterozygotes (i.e., carriers). Because germline mosaicism and uniparental isodisomy are possible, carrier status of parents needs to be confirmed with molecular genetic testing. At conception, each sib of an affected individual whose parents are both carriers has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for family members at increased risk and prenatal diagnosis or preimplantation genetic diagnosis for pregnancies at increased risk are possible if both pathogenic variants have been identified in the family.

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