Lethal acantholytic epidermolysis bullosa- a report on the prenatal phenotype of two cases and a review of antenatal sonographic signs of congenital denuding skin diseases.

ABSTRACT:

Background

The DSP gene encodes the desmosomal protein desmoplakin and is located on chromosome 6. Pathogenic variants in this gene have been linked to different phenotypes that may include the skin, hair, nails, teeth, and the heart. Lethal acantholytic epidermolysis bullosa (LAEB, OMIM # 609638) is a severe and lethal form of epidermolysis bullosa, caused by biallelic pathogenic variants in the DSP gene.

Case presentation

This report describes two fetuses from the same family, both affected by LAEB. The parents were second degree cousins. Both fetuses showed multiple sonographic abnormalities antenatally. The first fetus had a lemon shaped skull, an abnormal profile with frontal bossing, flat nasal bridge, nasal hypoplasia and micrognathia. There was increased pericardial

SUBMITTER: Lehavi M 

PROVIDER: S-EPMC11927137 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature