2016年 · 第129卷第12期

Atopic dermatitis (AD) is a common chronic inflammatory skin disorder that is characterized by dry skin and disturbed skin barrier functions. Mutations in the filaggrin (FLG) gene, the gene coding profilaggrin/filaggrin, have a great impact on the epidermal barrier function and are an important predisposing factor for AD. However, in both Europeans and Asians, the presence ofFLGmutations has been reported to be population-specific.FLGmutation c.3321delA is an Asian-specific mutation and is the most common mutation in the Chinese population, accounting for up to 15% of patients with AD.^[1]In a previous genome-wide association study of AD, Menget al.^[2]identifiedFLGvariant rs3126085, which was correlated with c.3321delA. Several studies have shown that the c.3321delA mutation was associated with various AD-associated phenotypes, most of which are related to dry skin phenotypes, including xerosis, ichthyosis vulgaris (IV), and palmar hyperlinearity.^[2]In this study, we used high-resolution melting analysis (HRMA) with unlabeled probe for the detection of c.3321delA mutation in Chinese AD patients and investigated the genotype-phenotype correlation between c.3321delA and atopic characteristics.

Paraneoplastic pemphigus (PNP), an acantholytic mucocutaneous syndrome, has a universal association with malignancy and a poor prognosis.^[1]The clinical picture is characterized by painful mucosal erosions, ulcerations, and polymorphous skin lesions that progress to blistering eruptions on the trunk and extremities. In the reviews of all PNP, hematologic malignancies such as non-Hodgkin’s lymphoma, chronic lymphocytic leukemia, and Castleman’s disease account for the most part; nonhematologic malignancies are very seldom especially adenocarcinoma of colon.^[2]These will be illustrated in the following paper on the basis of a case report of a patient with colonic adenocarcinoma who presented with PNP.

Thyroid-associated ophthalmopathy (TAO) is an autoimmune inflammatory disease. Pseudoptosis (or ptosis), which involves a reduction in the opening of the upper eyelid with a normal levator muscle, is rarely reported in TAO patients.^[1,2,3]In this article, we reported three cases of unilateral pseudoptosis due to inflammation of the levator in the contralateral eye. The effect of the unilateral use of triamcinolone acetonide (TA) on contralateral lid position and contour was also investigated.

To the Editor: Although the triad of palpitations, headaches, and sweating is generally recognized as the classic presentation for pheochromocytoma, we reported the case of a patient with pheochromocytoma who first presented with ventricular tachycardia (VT). This case shows the importance of a broad differential diagnosis when the clinical presentation is unusual. A 17-year-old woman presented with episodic palpitation and headaches during physical activities for 4 years. The symptoms resolved after 3-5 min of rest. Two days before admission, she was admitted to the emergency department with persistent palpitations and headaches, and the blood pressure (BP) was 180/90 mmHg. The admission echocardiography (ECG) revealed a sinus rate of 92 beats/min. There was no family or personal history of syncope, cardiac arrest, and sudden death. The physical examination was unremarkable. The admission and peak creatine kinase-MB was 153 U/L and 157 U/L, respectively.

To the Editor: A 32-year-old Chinese male patient with 1 week cough and dyspnea on exertion was presented to hospital. He was a metastatic lung adenocarcinoma patient with 3 years treatment history. In October 2012, the patient complained cough, short of breath, and thoracic computerized axial tomography scan (CAT-scan) revealed left lung hilum mass with the right lung multismall patches or opacities. Core needle biopsy on supraclavicular lymph nodes was performed and diagnosis of Stage IV (T3N3M1a) lung adenocarcinoma was made by radiologist, pathologist, and oncologist. Chemotherapy with cisplatin and pemetrexed was initiated and a partial response (PR) was reached. After 6 cycles of double-bullet chemotherapy, maintenance therapy with pemetrexed was used. In January 2014, positron emission tomography-computed tomography scan showed the right lung disease progression and bone metastasis. Fine needle aspiration (FNA) was performed on right lung node and genetic sequencing study showed epidermal growth factor receptor (EGFR) 19 del erlotinib (Tarceva, Roche, Switzerland) was administrated orally and both lung lesions became shrunk and a good PR was achieved after 1 month of erlotinib treatment. This result maintained 9.5 months until patient’s lung disease progression and liver metastasis which were confirmed by CAT-scan and FNA. The 3^rdline treatment with docetaxel (Qilu Pharmaceutical Co., China) and bevacizumab (Avastin, Roche, Switzerland) was administered, PR was reached. Patient’s symptoms got severe and CAT-scan showed disease progression on both lungs after 4 months of above treatment. FNA was performed on the right lung lesion and gene panels were tested, it showed EGFR T790M, 19 del, and TP53 mutation. AZD9291 (Tagrisso, Osimertinib, AstraZeneca, UK) was used at a dose of 80 mg oral daily. The patient performed well and CAT-scan showed PR at 1 month follow-up, and the lesions continued remission on the last follow-up at 5.5 months therapy. The patient complained light cough and short of breath on exertion at 4.5 months of AZD9291 therapy. Physical examination was unremarkable; there were no rales or wheezes on chest auscultation. Oxygen saturation was 98%, blood works results were all within normal range. CAT-scan revealed interstitial lung fibrosis change on both lungs and obvious ground-glass opacities on the right upper lung [Figure 1a]. After carefully reviewed patient’s history and series CAT-scans, drug-induced acute interstitial lung disease (ILD) was confirmed by pathologist, radiologist, and oncologist.

To the Editor: Deep brain stimulation (DBS) is widely used in Parkinson’s disease. Here, we report a bilateral hemorrhage case related to subthalamic nucleus (STN)-DBS. In this case, we preserved the electrode, and the curative effect is still satisfied after 2 years.

To the Editor: Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disease, characterized by mucocutaneous pigmentation and hamartomatous gastrointestinal polyps. Due to the possible association between PJS and cancer, multidetector computed tomography (MDCT) enterography is regularly used for the surveillance of the small bowel to reduce polyp-related complications, particularly of intussusceptions. Given rare conditions of multiple intussusceptions in PJS, the study investigated a case of a 15-year-old girl who was diagnosed with concurrent intestinal intussusception and colon intussusception due to relatively large polyps by MDCT enterography. In this case, MDCT enterography was enabled to provide information of polyps and complicated intussusceptions in PJS for the consequent endoscopic enteroscopy or surgery.

In the article, "Effects of the combination of mask preconditioning with idazolam pretreatment on anxiety and mask acceptance during pediatric inhalational induction and postoperative mask fear in children" , which appeared in the pages 1908-1914, issue 12, vol. 125 ofChinese Medical Journal,^[1]the article title is incorrectly written as "Effects of the combination of mask preconditioning with idazolam pretreatment on anxiety and mask acceptance during pediatric inhalational induction and postoperative mask fear in children" instead of "Effects of the combination of mask preconditioning with midazolam pretreatment on anxiety and mask acceptance during pediatric inhalational induction and postoperative mask fear in children" .