Clinical application of colony PCR in rapid detection of pathogenic fungi causing tinea capitis / 中华皮肤科杂志

Objective To evaluate the reliability and clinical practicality of colony PCR in rapid detection of pathogenic fungi causing tinea capitis.Methods Totally,17 children with tinea capitis were enrolled from the Department of Dermatology of Wuxi No.2 People's Hospital between January 2016 and March 2017.Colony PCR was performed to detect pathogenic fungi.The results of colony PCR were compared with those of routine PCR and morphological identification,so as to evaluate the reliability of colony PCR in the identification of pathogenic fungi causing tinea capitis.Results After clinical specimens (broken hairs and scales) from the 17 patients were subjected to fungal culture,the mycelia were collected and successfully amplified by colony PCR.The time of clony PCR (mean,3.82 ± 0.50 days) for DNA template preparation was short than that of traditional morphological identification (14 days).Based on the results of conventional PCR,the accuracy of colony PCR for fungal identification was 100％,which was superior to that of conventional PCR (88.2％).Conclusions Colony PCR can be applied to the clinical detection of pathogenic fungi causing tinea capitis at specy level,and is a kind of rapid,economic and reliable molecular detection technique.

Reticulate pigmented anomaly of the flexures: a family survey and mutation analysis of KRT5 gene / 中华皮肤科杂志

ObjectiveTo observe clinical features and identify causative genes of reticulate pigmented anomaly of the flexures in a pedigree.Methods A survey was conducted in a pedigree with reticulate pigmented anomaly of the flexures.Clinical manifestations were recorded in details for each patient in this pedigree.Tissue specimen was obtained from the proband for histopathological examination and ultrastructural observation.Mutation scanning was carried out by PCR and direct sequencing in 3 patients in the family.ResultsAll the patients in this pedigree presented with reticular pigmentation of the flexures and idiopathic guttate hypomelanosis on the abdomen and back.Histopathological and ultrastructural study revealed epidermal hyperpigmentation with an increase in melanin content in epidermal keratinocytes but no changes in the number of melanocytes.No mutation was found in the KRT5 gene in this family.ConclusionsThis is the first case report of reticulate pigmented anomaly of the flexures associated with idiopathic guttate hypomelanosis.No mutation is identified in the KRT5 gene of patients with reticulate pigmented anomaly of the flexures in this family,indicating the existence of other causative genes.

The 521 T--> C mutation in the keratin 6A gene in a pedigree with pachyonychia congenita type I / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the mutation in the keratin 6A(K6A) gene in a pedigree with pachyonychia congenita type I (PC-I).</p><p><b>METHODS</b>Blood samples were obtained from 2 affected, 3 unaffected members in this family, and 100 unrelated healthy individuals. Mutation detection was carried out by PCR amplification of the K6A gene and direct DNA sequencing.</p><p><b>RESULTS</b>A heterozygous mutation of T--> C transition at position 521 in exon 1 of the K6A gene was found in the 2 affected, but not in the unaffected members and 100 unrelated healthy individuals.</p><p><b>CONCLUSION</b>The mutation of 521T--> C in the K6A gene is the disease causing mutation in this PC-I family.</p>