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

[dystrophic epidermolysis bullosa]

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 . COL 7 A 1 gene tests were subsequently performed on the patient 's family . Insertion of AGGG fragment was found at the 500 th locus of exon 13 in the mother 's COL 7 A 1 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 COL 7 A 1 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 .

Diseases
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Diseases presenting "small amount" symptom

classical phenylketonuria

dystrophic epidermolysis bullosa

junctional epidermolysis bullosa

pleomorphic liposarcoma

pyruvate dehydrogenase deficiency

scrub typhus

systemic capillary leak syndrome

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