Clinical Guidance

ITGB4. The most severe cutaneous manifestations are caused by biallelic pathogenic variants that result in a premature termination codon, although pathogenic variants between exon 3 and intron 11 are also associated with a poor prognosis. A more favorable prognosis is typically associated with missense variants and in-frame insertions or deletions. However, missense variants in the plectin-binding region or in cysteine-rich domains are associated with a poor prognosis. Several additional missense variants result in a severe phenotype, such as the recurrent ITGB4 variant , which is common in Hispanic individuals with EB-PA [, , , , ].

Source: GeneReviews — "Epidermolysis Bullosa with Pyloric Atresia"

Diagnostic Criteria

Suggestive Findings

Epidermolysis bullosa with pyloric atresia (EB-PA) should be suspected in newborns with the following clinical features:

Source: GeneReviews — "Epidermolysis Bullosa with Pyloric Atresia"

Differential Diagnosis

Pyloric Atresia

In contrast to pyloric stenosis, which presents insidiously with vomiting, pyloric atresia is present at birth and causes complete obstruction of the gastric outlet. The diagnosis of epidermolysis bullosa with pyloric atresia (EB-PA) should be considered in every neonate with pyloric atresia regardless of the degree of skin blistering.

Epidermolysis Bullosa

The 2020 classification system names four major types of epidermolysis bullosa (EB). Classification into major type is based on the location of blistering in relation to the dermal-epidermal junction of the skin.

Source: GeneReviews — "Epidermolysis Bullosa with Pyloric Atresia"

Management Guidelines

No clinical practice guidelines for epidermolysis bullosa with pyloric atresia (EB-PA) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with EB-PA, the evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Epidermolysis Bullosa with Pyloric Atresia

Source: GeneReviews — "Epidermolysis Bullosa with Pyloric Atresia"

Clinical Guidance

Most persons with EB-PA cannot use ordinary medical tape or Band-Aids®. EKG leads should be applied without adhesive. Poor-fitting or coarse-textured clothing and footwear should be avoided as they can cause trauma. In general, activities that traumatize the skin should be avoided. Affected individuals who are determined to participate in such activities should be encouraged to find creative ways to protect their skin.

Source: GeneReviews — "Epidermolysis Bullosa with Pyloric Atresia"

Therapies Under Investigation

Several therapies are being investigated in treatment of junctional epidermolysis bullosa (JEB) (see Junctional Epidermolysis Bullosa, Therapies Under Investigation). There are no therapies under investigation specifically for EB-PA due to the rarity of the condition. The antibiotic gentamicin can induce read-through of premature termination codons. Topical and intravenous gentamicin is being investigated as a treatment for JEB in individuals with LAMA3, LAMB3, and LAMC2 pathogenic variants; it has not been studied in genes associated with EB-PA. Systemic gentamicin has also been studied for treatment of PLEC-related epidermolysis bullosa simplex with muscular dystrophy due to nonsense variants .

Source: GeneReviews — "Epidermolysis Bullosa with Pyloric Atresia"

Surveillance Guidelines

To monitor existing manifestations in survivors, the individual's response to supportive care, and the emergence of new manifestations, the evaluations in are recommended. Table 7. Recommended Surveillance for Individuals with Epidermolysis Bullosa with Pyloric Atresia

Source: GeneReviews — "Epidermolysis Bullosa with Pyloric Atresia"