Novel compound heterozygous ITGB4 mutations underlie lethal junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita

Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth. After a few days, he developed blisters that were consistent with epidermolysis bullosa in histopathological examination. There was no systemic involvement such as pyloric atresia, ureteral stenosis, renal abnormalities, or arthrogryposis. All laboratory work and imaging studies were normal. A diagnosis of Bart syndrome was made based on previous presentation. We managed the patient with conservative methods. Complete epithelialization occurred after several weeks.

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Case Report: Uncommon Association of ITGB4 and KRT10 Gene Mutation in a Case of Epidermolysis Bullosa With Pyloric Atresia and Aplasia Cutis Congenita

Frontiers in Genetics ◽

10.3389/fgene.2021.641977 ◽

2021 ◽

Vol 12 ◽

Author(s):

Melinda Matyas ◽

Diana Miclea ◽

Gabriela Zaharie

Keyword(s):

Epidermolysis Bullosa ◽

Gene Mutations ◽

Lower Limbs ◽

Pathological Examination ◽

Fetal Ultrasound ◽

Pyloric Atresia ◽

Digestive Tube ◽

Aplasia Cutis Congenita ◽

Limb Deformities ◽

Aplasia Cutis

Background: Epidermolysis bullosa is a rare form of genodermatosis produced by different gene mutations. The junctional form of the disease (JEB-PA) can associate pyloric atresia, renal abnormalities, and aplasia cutis congenita.Case Description: A case of a male preterm newborn with suspicion of digestive tube malformation at fetal ultrasound and who was born by cesarian section. At birth, he presented extensive cutaneous aplasia on the lower limbs and bilaterally under ears; outer ear agenesis; nasal septum hypoplasia; micrognathia; multiple blisters on the face, trunk, and limbs; lower limb deformities and absence of toe nails. Pathological examination following a surgical procedure with unfavorable outcome showed pyloric atresia, junctional form of epidermolysis bullosa and aplasia cutis congenita. Homozygous variants in two genes were identified: c.3111+1G>A in ITGB4 (class 5) and c.1498G>T in KRT10 (class 3).Conclusion: The particularity of our case is the novel finding of a coincidental occurrence in the context of consaguinity of two mutations in the ITGB4 and KRT10 genes, and clinical characteristics of epidermolysis bullosa.

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The Pyloric Atresia—Junctional Epidermolysis Bullosa Syndrome

Archives of Dermatology ◽

10.1001/archderm.1992.01680180077009 ◽

1992 ◽

Vol 128 (8) ◽

pp. 1083 ◽

Cited By ~ 39

Author(s):

Gilles G. Lestringant

Keyword(s):

Epidermolysis Bullosa ◽

Pyloric Atresia ◽

Junctional Epidermolysis Bullosa

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