Gene mutation analysis of congenital skin defects: a case report / 中华皮肤科杂志

ABSTRACT

A female infant presented with skin defects and blisters for 2 hours after birth.Physical examination showed asymmetric skin defects on both lower extremities and left wrist,a thin-walled blister on the dorsal side of the right hand,and partial loss of the oral mucosa.No other abnormal signs were found.Genetic testing showed a heterozygous pathogenic mutation c.481C ＞ T (p.Gln161*) in exon 4 of the COL7A1 (NM-000094) gene and a heterozygous pathogenic mutation c.1837C ＞ T (p.Arg613*) in exon 14 of the COL7A1 (NM-000094) gene,which were also identified in the patient's father and mother respectively.The infant was diagnosed with congenital skin defects.The patient received protective isolation,focal washing with 0.9％ sodium chloride physiological solution,topical epidermal growth factor and comprehensive treatment for infection prevention.After 6-day treatment,the patient was discharged with dry and non-exudative skin lesions.This case prompted that abnormal heterozygosis mutation at C.481 and C.1837 sites on the COL7A1 (NM-000094) gene could form compound heterozygote,acting as pathogenic mutation.