epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome

Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome is a life‐threatening multisystem disorder that presents in the first months of life. It is caused by pathogenic variants in the ITGA3 gene, which disrupts normal cell adhesion and tissue integrity in several organs. Affected infants typically experience severe respiratory distress and proteinuria in the nephrotic range, alongside characteristic skin changes such as blistering, erosions, nail abnormalities, and sparse hair. The condition is very rare, affecting fewer than 1 in 1,000,000 individuals.

Patients with this condition display a set of consistent and significant clinical features. Nearly all affected individuals develop nephrotic syndrome, respiratory distress, and focal segmental glomerulosclerosis, as well as skin findings including abnormal blistering, nail dystrophy, onycholysis, sparse eyebrows, sparse scalp hair, and sparse eyelashes. In addition, a subset of patients can show abnormal pulmonary interstitial morphology and recurrent respiratory infections. Not all individuals experience every feature, and severity varies considerably.

This condition is caused by pathogenic variants in the ITGA3 gene and is inherited in an autosomal recessive pattern. Mutations in ITGA3 impair the production of a protein critical for cell adhesion, affecting tissue integrity across the skin, lungs, and kidneys. Since both parents typically carry a single copy of the altered gene, there is a 25% recurrence risk for each pregnancy. The condition is more common when parents share a common ancestor, which increases the chance of both carriers passing on the rare variant.

Currently, management focuses on supportive care and symptom control because no foundational therapies or targeted treatments are available for this condition. A multidisciplinary team should be involved to address the pulmonary, renal, and dermatologic complications. Regular surveillance is an essential part of long-term care, helping to identify potential complications before they become serious. Genetic counseling is recommended to provide families with additional guidance on inheritance and family planning.

The course of epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome is severe and multi-organ in nature, with outcomes varying widely among individuals. While many affected patients face life-threatening complications early in life, some may experience periods of relative stabilization with comprehensive supportive care. Outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to connect with specialists experienced in managing this condition and to seek genetic counseling for further guidance.