Sibel Ersoy Evans

Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene

Chanarin-Dorfman syndrome (CDS) is an autosomal recessive metabolic disorder associated with congenital ichthyosis and a multisystemic accumulation of neutral lipids in various types of cells. Recently, mutations of the ABHD5 gene were identified as the cause of CDS. In this work, we carried out molecular analysis of the ABHD5 gene in 6 unrelated patients. We identified one previously reported mutation, N209X and two novel genetic alterations; a nonsense mutation (p.Y50X) and missense mutation (p.S73A).

AN UNUSUAL PRESENTATION OF ERYTHEMA TOXICUM NEONATORUM: DELAYED ONSET IN A PRETERM INFANT

patients is unusual. We report a child with chronic urticaria to cockroach. A 12-year-old boy was referred to our hospital because of chronic urticaria that had begun when he was 7 years old. It had improved with the use of antihistamine therapy but he had stopped taking the antihistamines. He did not develop allergic rhinitis, asthma, or atopic dermatitis. His weight and height percentiles were 25%. He had urticarial plaques but his breathing sounds were clear, and his heartbeat was regular, without murmur. Abdominal examination was normal without any organ enlargement. The white blood cell count was 7440/mm 3 , eosinophil percent was 9%, eosinophil count was 670/mm 3 , total immunoglobulin E level was 2066, sedimentation rate was 19 mm/hour, urine examination was normal, parasite examination was negative. He underwent a complete allergy evaluation. Antihistamines were withheld for 10 days before the tests. Skin prick test was performed. Only cockroach hypersensitivity was found. Chronic urticaria is a very common skin disease with a considerable impact on quality of life. Whereas atopics are at increased risk for acute urticaria /angioedema as well as some forms of physical urticaria, most patients with chronic urticaria/angioedema are, surprisingly, not atopic. The underlying cause of mast cell degranulation in the majority of patients with chronic urticaria /angioedema cannot be determined. Although there is a widespread belief that cockroach allergy is a common problem in patients with respiratory allergies (4), little is known about its possible role in chronic urticaria. Our patient’s chronic urticaria dramatically improved following the avoidance of cockroach. We have reported him because there are no data about chronic urticaria with isolated cockroach hypersensitivity. We propose that cockroach hypersensitivity be considered and investigated in chronic urticaria patients.

EXTRANODAL TYPE T/NK-CELL LYMPHOMA WITH AN ATYPICAL CLINICAL PRESENTATION

Peripheral-type natural killer (NK)-or T-cell lymphomas are rare disorders characterized with clonal proliferation of mature lymphocytes. They have been linked to chronic and active Epstein-Barr virus infection (CAEBV), which itself is not defined as a malignant hematological disorder. The authors present a patient with T/NK-cell lymphoma involving skin, kidneys, spleen, pancreas, and meninges. She was remarkable for having the mosaic feature of more than one type of extranodal T/NK-cell lymphoma. She also had mixed findings of CAEBV that might have been attributed both to hypersensitivity to mosquito bites and to hemophagocytic lymphohistiocytosis.

Genetic Risk Factors for Psoriasis in Turkish Population: -1540 C/A, -1512 Ins18, and +405 C/G Polymorphisms within the Vascular Endothelial Growth Factor Gene

Background Evidence regarding the vascular endothelial growth factor A (VEGFA) as a potent mediator of angiogenesis and inflammation in psoriasis has revealed variations in this gene as surrogate markers of psoriasis. Objective VEGFA gene polymorphisms (-1540 C/A, -1512 Ins18, -460 T/C, and +405 C/G) in psoriasis susceptibility in Turkish population were investigated. Methods A total of 200 age, sex and ethnicity-matched psoriatic and healthy individuals were examined for clinical type, response to therapy, serum VEGFA and its receptor levels, genotypes and haplotypes. Results The +405 GG, +405 CG, -1540 CA, and -1512 +Ins18 genotypes conferred a significant risk for developing psoriasis. The C-InsTC haplotype in the controls and C+InsTG, A+InsTC, and A-InsTG haplotypes in psoriatic patients were observed to be significantly high. Increased serum levels of VEGFA were detected in psoriatic patients with the C-InsTC haplotype than that in the controls. The +405 GG genotype was significantly more frequent in psoriatic patients with a positive family history, and the moderate form of psoriasis was more frequent among C+InsTG haplotype carriers than that among the other patients. The +405 GG genotype was found to be more frequent in patients responding to oral retinoids. Serum VEGFR1/FLT1 and VEGFR2/KDR levels were not significantly different when psoriatic patients and controls were stratified based on the risk polymorphic variants. Conclusion VEGFA gene +405 GG and CG, -1512+Ins18, and -1540 CA genotypes are associated with an increased risk of psoriasis in Turkish population. The G allele at +405 and an 18-bp insertion at -1512 are primarily the risk factors for psoriasis, and this risk is potentiated by the presence of the A allele at the -1540 locus.

Primary Lymphocytic Cicatricial Alopecia: A Retrospective Analysis of 36 Patients

Cicatricial alopecias (CAs) are a group of diseases that cause irreversible loss of hair follicles (1). The folliculocentric attack is common in all CAs, which can be divided into 2 groups as primary and secondary CAs. While the hair follicle is targeted and damaged mainly in primary CAs, the primary event in secondary CAs is cutaneous, and when cutaneous inflammation involves the hair follicles, the follicle is damaged; in other words, they are not specifically folliculocentric. According to the predominant inflammatory cell type, primary CAs are divided into four subgroups as lymphocytic, neutrophilic, mixed inflammatory, and nonspecific (2). Infections, severe burns, tumors, and exposure to radiation are among the causes of secondary CAs. As a result, the hair follicles are permanently damaged irrespective of whether they are primary or secondary; CAs are clinically characterized by the loss of follicular ostium and histopathologically by the loss of hair follicles, which are substituted with fibrous tissue (3).