[Neonatal hereditary dystrophic epidermolysis bullosa: a genetically diagnosed case report]

To investigate the diagnostic value of clinical manifestations, pathologic findings of skin biopsies and genetic testing in the diagnosis of neonatal hereditary dystrophic epidermolysis bullosa.

Here we reported one case of hereditary dystrophic epidermolysis bullosa with neonatal onset, and explored the clinical and pathological features,as well as the genetic diagnosis,of the disease process.

The neonate was born with large areas of skin damage and erosion, extending to the left ankle and foot, and was admitted to the hospital 10 hours after birth. Hemophysallis and blisters were found in her mouth, and during her hospital stay the patient developed multiple bullae, skin peeling and skin erosion at the compressed and friction areas of the body. Bacterial cultures from both the skin erosion and oral secretions were negative. Pathology of the skin showed a small amount of loose connective tissue visualized by light microscopy. Visualization with electron microscope revealed no basal layer in the majority of the skin, tonofilament scattered in the dermal tissue, and basement membrane with unclear anchoring fibril and thinner lamina densa in a portion of the region studied. Consequently,the diagnosis of dystrophic epidermolysis bullosa was made. COL7A1 gene tests were subsequently performed on the patient's family. Insertion of AGGG fragment was found at the 500th locus of exon 13 in the mother's COL7A1 gene. The patient's father had a G-to-A mutation at the splicing locus after exon 98. The neonate had complex heterozygous mutation in COL7A1 gene consistent with the father and mother's mutation, which led to the development of the disease. The parents,who were carriers of the disease-causing genes,both had a normal phenotype.

Skin pathology was indicated for the diagnosis of clinically suspicious hereditary dystrophic epidermolysis bullosa. The microstructure visualized in the pathologic findings aided in making the preliminary classification, and further genetic testing was able to be performed according to the pathological classification. Genetic testing of the parents could greatly aid family planning in the future.