Frontal fibrosing alopecia: two case reports / 中华皮肤科杂志

Two cases of frontal fibrosing alopecia (FFA) were reported.Case 1,a 44-year-old woman,presented with progressive recession of the frontotemporal hairline for 4 years and multiple skincolored facial papules for 2 years.Skin examination showed that the frontotemporal hairline was receded,the local skin was smooth and thin,and a few remaining fine hairs could be seen.Additionally,eyebrows,axillary and pubic hairs were partly shed,and plenty of millet-sized skin-colored papules were diffusedly distributed on the frontotemporal region and bilateral mandibular angles.Dermatoscopy showed reduced hair follicular openings,different hair shaft diameters,cicatricial white patches and perifollicular erythema.Case 2,a 55-year-old woman,presented with progressive frontotemporal hair loss for 2 years.Skin examination revealed the recession of bilateral frontotemporal hairline and partial loss of eyebrows,axillary and pubic hairs.Histopathological examinations of the 2 patients both revealed perifollicular infiltration of lymphocytes,liquefaction degeneration of basal cells and perifollicular lamellar fibrosis.Clinical manifestations and histopathological features of the 2 patients both confirmed the diagnosis of FFA.

A novel indel NF1 mutation identified in a patient with neurofibromatosis type 1 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the genetic etiology in a Chinese patient with neurofibromatosis type 1 (NF-1).</p><p><b>METHODS</b>All coding exons and the flanking sequences of neurofibromin 1 (NF1) gene from the patient were captured, individually barcoded and subjected to HiSeq2000 high-throughput sequencing. Suspected mutation was validated in the nuclear family members with Sanger sequencing.</p><p><b>RESULTS</b>A novel indel mutation, c.789_790delAGinsT, was identified in the exon 8 of the NF1 gene in the patient but not in her asymptomatic parents. The mutation was predicted to have caused shifting of the reading frame and a premature downstream stop codon (p.K263Nfs*18). Two known polymorphisms, c.888+108 C>T (rs2953000) and c.888+118 G>T (rs2952999), was detected in the flanking of the indel mutation in the patient and her father. Sequencing chromatogram for the family indicates that above changes are located on the same chromosome.</p><p><b>CONCLUSION</b>The c.789_790delAGinsT, as a de novo mutation occurring on the paternally derived chromosome, is most likely to be causative for the disease. Compared with Sanger sequencing, targeted next-generation sequencing is more efficient and can dramatically reduce the cost for the genetic testing of NF-1.</p>

PCR-induced Modification of C Terminus of HPV-16 E7 and Expression of Mutational E7 in Eukaryotic Cells / 中华皮肤科杂志

Objective To induce the mutation of HPV-16 E7 in two zinc-binding motifs near the C terminus by polymerase chain reaction (PCR) and evaluate the effect of this mutation on the antigen-specific immunity of HPV-16 E7. Methods HPV-16 E7 fragment was amplified by PCR and cloned into pGEM-3zf vector. Two site mutations at 58 and 91 animo acid sites in the open reading frame of HPV-16 E7 were induced by PCR, and then the molecular clones of HPV-16 E7 wild type (pcDNA3.1/E7) and mutant (pcDNA3.1/ME7) were successfully reconstructed. Western blot and immunofluorescence were used to detect the expression of E7 protein. Results Intracellular fluorescence signals were observed in the cells transfected with pcDNA3.1/E7 and pcDNA3.1/ME7 24 hours after transfection, but the signals in the cells transfected with pcDNA3.1/ME7 disappeared 48 hours after tansfection. Twenty-four and 48 hours after transfection with pcDNA3.1/ME7, E7 protein was not detected by Western blot. Conclusions The stability of HPV-16 E7 protein is reduced by mutations (C58G, C91G) near two zinc-binding motifs. It is suggested that the zinc-binding motifs near the C terminus of HPV-16 E7 may be important for maintaining the stability of E7 protein.