Dyskeratosis Congenital: A Case Report And Its Gene Mutation Detection

Objective:Discussion of Dyskeratosis Congenital(DC)of the clinical manifestations and genetic testing,further improve the clinical recognition and diagnosis of the disease.Methods: A case of DC in our department was collected for medical history,physical examination,laboratory examination and skin tissue pathology biopsy,and then in order to further clarify whether a hot spot mutant gene or a new mutant gene is present in the patient of this example,the patient and her family were further tested for gene.After informed consent of the patient and their families,5ml venous blood samples were taken for gene detection,six hot spot genes(DKC1、TERT、TINF2、NPH2、NOP10、WRAP53)were detected by NGS panel capture sequencing(sub-total outer).Results: 1.The patient,a 20-year-old woman,was admitted to our outpatient department for 5 years due to skin pigmentation in neck and chest and abnormal development of nail.She had typical clinical triad: skin pigmentation、nail malnutrition、mucosal leukoplakia,oral leukoplakia.At the same time with hair scarce and dry,and her teeth are not arranged neatly.2.The results of blood routine examination showed that red line and thrombocytopenia.Skin biopsy showed that the epidermis was slightly atrophic and thinned,the pigment in the basal layer was slightly increased and the liquefaction and vacuolization occurred in the basal layer,and the superficial dermis was scattered with phagocytic pigment cells.3.According to the clinical manifestations,laboratory examination and skin biopsy,Dyskeratosis Congenital was diagnosed.4.None of the six hot spot genes(DKC1、TERT、TINF2、NPH2、NOP10、WRAP53)were detected.Conclusion: 1.According to the patient’s clinical manifestations,combined with the patient’s laboratory blood routine results showed two series of reduction and skin biopsy results,so Dyskeratosis Congenital was diagnosed.2.None of the six hot spot genes(DKC1、TERT、TINF2、NPH2、NOP10、WRAP53)were mutated in this detection.