BackgroundPoikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused by C16orf57 mutations. To date 17 mutations have been identified in 31 PN patients.ResultsWe characterize six PN patients expanding the clinical phenotype of the syndrome and the mutational repertoire of the gene. We detect the two novel C16orf57 mutations, c.232C>T and c.265+2T>G, as well as the already reported c.179delC, c.531delA and c.693+1G>T mutations. cDNA analysis evidences the presence of aberrant transcripts, and bioinformatic prediction of C16orf57 protein structure gauges the mutations effects on the folded protein chain.Computational analysis of the C16orf57 protein shows two conserved H-X-S/T-X tetrapeptide motifs marking the active site of a two-fold pseudosymmetric structure recalling the 2H phosphoesterase superfamily. Based on this model C16orf57 is likely a 2H-active site enzyme functioning in RNA processing, as a presumptive RNA ligase.According to bioinformatic prediction, all known C16orf57 mutations, including the novel mutations herein described, impair the protein structure by either removing one or both tetrapeptide motifs or by destroying the symmetry of the native folding.Finally, we analyse the geographical distribution of the recurrent mutations that depicts clusters featuring a founder effect.ConclusionsIn cohorts of patients clinically affected by genodermatoses with overlapping symptoms, the molecular screening of C16orf57 gene seems the proper way to address the correct diagnosis of PN, enabling the syndrome-specific oncosurveillance.The bioinformatic prediction of the C16orf57 protein structure denotes a very basic enzymatic function consistent with a housekeeping function. Detection of aberrant transcripts, also in cells from PN patients carrying early truncated mutations, suggests they might be translatable. Tissue-specific sensitivity to the lack of functionally correct protein accounts for the main cutaneous and haematological clinical signs of PN patients.

A AB BS ST TR RA AC CT T O Ob bj je ec ct ti iv ve e: : Recent studies implicate the role of inflammatory responses in chronic spontaneous urticaria (CSU). The purpose of this study was to analyse the levels of neutrophil-lymphocyte ratio (NLR), serum C-reactive protein (CRP) and uric acid levels in CSU patients, and to investigate the relationship between these inflammatory parameters and disease activity. M Ma at te er ri ia al l a an nd d M Me et th ho od ds s: : A total of 100 people, consisting of 50 chronic urticaria patients and 50 healthy controls, who have no systemic disease, inflammatory, infectious or autoimmune disease, malignancy, were included in the study. R Re es su ul lt ts s: : NLR and serum CRP levels were significantly higher in patients with CSU than in healthy controls (p< 0.001, p< 0.001, respectively). The levels of uric acid did not show a statistically significant difference between CSU patients and controls (p= 0.359). A significant positive correlation was found between NLR and CRP in patients with CSU (p= 0.001, r= 0.442).When CSU patients were evaluated according to disease severity, serum CRP levels were significantly higher in patients with severe CSU than in patients with mild-moderate CSU (p= 0.038). C Co on nc cl lu us si io on n: : Several biomarkers have been studied in systemic diseases to determine the inflammatory process ongoing and the relationship between these markers and disease activity has been investigated. It can be concluded that CRP and NLR can be used to assess the inflammatory status in CSU and may be useful parameters during the follow-up of these patients. It is known that NLR and CRP are diagnostic and prognostic markers of cardiovascular diseases. Elevated values of NLR and CRP may demand caution regarding cardiovascular comorbidities that may accompany chronic urticaria.K Ke ey y W Wo or rd ds s: : C-reactive protein; neutrophils; uric acid; urticaria Ö ÖZ ZE ET T A Am ma aç ç: : Son dönemde yapılan çalışmalarda kronik spontan ürtikerde (KSÜ) inflamatuar yanıtın üzerinde durulmaktadır. Bu çalışmanın amacı KSÜ hastalarında nötrofil-lenfosit oranı (NLO), serum C-reaktif proteini (CRP) ve ürik asid düzeylerini belirlemek ve bu inflamatuar parametreler ile hastalık aktivitesi arasında ilişki olup olmadığını araştırmaktır. G Ge er re eç ç v ve e Y Yö ön nt te em ml le er r: : Herhangi bir sistemik hastalığı, inflamatuar veya infeksiyöz hastalığı, malignitesi, otoimmün hastalığı olmayan 50 kronik ürtiker hastası ve 50 sağlıklı kontrol olmak üzere toplam 100 kişi çalışmaya dahil edildi. B Bu ul lg gu ul la ar r: : NLO ve CRP düzeyleri KSÜ hastalarında sağlıklı kontrollere göre anlamlı olarak daha yüksekti (p<0,001, p<0,001, sırasıyla). Ürik asid düzeyleri açısından KSÜ hastaları ve sağlıklı kontroller arasında anlamlı bir fark izlenmedi (p=0,359). KSÜ hastalarında NLO ve CRP arasında anlamlı pozitif korelasyon mevcuttu (p=0,001, r=0,442). KSÜ hastaları hastalık şiddetine göre incelendiğinde serum CRP düzeyleri şiddetli KSÜ hastalarında hafif-orta şiddetli KSÜ h...

Rothmund-Thomson syndrome (RTS) is a rare genodermatosis with characteristic skin changes such as atrophy, abnormal pigmentation and telengiectasias, skeletal abnormalities, short stature, juvenile cataract and predisposition to skin and bone malignancies. Data from the literature suggest that cutaneous findings of the syndrome include genetically programmed ageing changes and DNA repair abnormalities related to photosensitivity. Our patient is a 23-year-old male who presented with an unhealing ulcer for one and a half year on his left leg. Although he had received many various treatments, there had been no significant improvement during this period. We believe that this failure of healing might be to DNA repair abnormalities of fibroblasts. To our knowledge, this is the first case reported with coexistence of an unhealing ulcer without any findings of malignancy and RTS.

In recent years, with the increase usage of tumor necrosis factor (TNF) inhibitors, more side effects have revealed. The incidence of paradoxical psoriasis (psoriasis vulgaris, palmoplantar pustulosis, scalp psoriasis, or their combinations) ranges from 1 to 5%; however alopecia due to anti‐TNF‐α‐induced scalp psoriasis, rarely reported in the literature. We report a 37‐year‐old woman who developed palmoplantar pustulosis and scalp psoriasis with severe alopecia after 2 months of treatment with adalimumab for chronic plaque psoriasis. Biopsies from the palmar and scalp lesions showed psoriasiform changes. Adalimumab treatment was discontinued, and methotrexate was started (15 mg/weekly, subcutaneously) with topical adjuvant agents. A dramatic improvement was seen in both the skin and scalp with complete hair regrowth in 1 month. We conclude that, in anti‐TNF‐α‐induced scalp psoriasis, suspension of anti‐TNF‐α agent and systemic and topical treatments should be considered to avoid scarring alopecia.