Ana Batalla

The Cw6 and late-cornified envelope genotype plays a significant role in anti-tumor necrosis factor response among psoriatic patients.

Our aim was to determine whether the HLA-Cw6 and late-cornified envelope (LCE) deletion polymorphisms were related to disease improvement among psoriasis patients treated with anti-tumor necrosis factor (TNF) antibodies. The study included a total of 116 patients. Positive response (68%) was defined as a reduction of at least 75% of the Psoriasis Area and Severity Index (PASI) after 24 weeks of starting the anti-TNF therapy. We found a trend toward a better response among Cw6-positive patients. The frequency of patients who did not reach the PASI75 was higher among the LCE-DD patients (P=0.028; odds ratio=2.45, 95% confidence interval=1.09-5.52). Patients who were Cw6-positive and LCE-I carriers (ID/II) were significantly more likely to reach PASI75 than those who were Cw6-negative and LCE-DD (P=0.034; odds ratio=3.14, 95% confidence interval=1.07-9.24). In conclusion, we found an interaction between the HLA-Cw6 and LCE genotypes on disease improvement among psoriatic patients treated with anti-TNFs.

Association between single nucleotide polymorphisms IL17RA rs4819554 and IL17E rs79877597 and Psoriasis in a Spanish cohort.

BACKGROUND The IL17 pathway plays an important role in the pathogenesis of psoriasis (PsO). OBJECTIVES To determine whether the variation at the IL17 pathway genes was linked to the risk for PsO or had an effect on disease severity and the risk for Psoriatic arthritis (PsA). METHODS Cross-sectional observational study of 580 psoriasis patients and 567 healthy controls who were genotyped for six single nucleotide polymorphisms (SNPs) in the IL17RA (rs4819554, rs879577), IL17A (rs7747909), IL17F (rs763780, rs2397084), and IL17E (rs79877597) genes. RESULTS We found significant higher frequencies of IL17RA rs4819554 G carriers among the patients (OR=1.33, 95%CI=1.05-1.69; p=0.017). The IL17RA rs4819554 G allele and IL17F rs2397084 TT genotype were significantly more frequent among Cw6 positive patients (p=0.037 and p=0.010, respectively). The IL17E rs79877597C allele was significantly more common among patients with severe forms of PsO (p=0.010; OR=2.42, 95%CI=1.23-4.76), and the CC genotype with the presence of arthritis (p=0.032; OR=1.50, 95%CI=1.04-2.18). CONCLUSIONS We identified the IL17RA rs4819554 SNP as a risk factor for PsO. The IL17E rs79877597 SNP was a modifier of the risk for PsO disease severity and PsA.

CDKAL1 gene variants affect the anti-TNF response among Psoriasis patients.

The heterogeneous response to anti-TNF biological drugs among Psoriasis (Psor) patients might be explained by gene variants linked to the risk for Psor. Common variants in the CDKAL1 gene have been associated with the risk of developing Psor. Our hypothesis was that these variants could also influence the response to anti-TNFs among Psor-patients. A reduction of at least 75% in the Psoriasis area and severity index (PASI 75) at week 24 was considered a positive response to treatment. A total of 116 patients (78 responders and 38 non-responders) were genotyped for the CDKAL1 rs6908425, rs4712523, rs111739077, and rs77152992 (p.P409L) single nucleotide polymorphisms. Allele and genotype frequencies differed between the two response groups, with the highest difference for the rs6908425: CC homozygotes were significantly more common among responders (72% vs. 45%; p=0.005; OR=3.14, 95%CI=1.40-7.05). In conclusion, our data suggested that CDKAL1 gene variants have a significant effect on the response to anti-TNF therapies among Psor patients. If confirmed on other large cohorts of patients, the genotyping of these variants might help to predict the biological response.

Association between the IL17RA rs4819554 polymorphism and reduced renal filtration rate in the Spanish RENASTUR cohort

DNA variants at the genes that encode components of the IL17-pathway may contribute to the risk of impaired renal function/chronic kidney disease. Our aim was to determine whether common IL17RA single nucleotide polymorphisms (SNPs) were associated with a reduced estimated glomerular filtration rate (eGFR) in a cohort of healthy elderly individuals (n=650). We found a significantly higher frequency of SNP rs4819554 AA homozygotes among individuals with eGFR<60 ml/min/1.73 m(2) (n=90) (p=0.005, OR=2.11; 1.26-3.54), an effect that was independent of the presence of type 2 diabetes. Allele rs4819554 A had been associated to the risk of developing end stage renal disease, and was also linked to an increased expression of the IL17RA protein and higher levels of Th17 cell subsets. A scenario in which the pro-inflammatory role of the IL17-pathway contributes to kidney damage might explain the association between Il17RA polymorphisms and an impaired renal function.

NFKBIZ in Psoriasis: assessing the association with gene polymorphisms and report of a new transcript variant.

The IκBζ protein (NFKBIZ gene) is a nuclear inhibitor of NF-κB and plays an important role in the pathogenesis of Psoriasis (Psor). We sought to determine whether common NFKBIZ variants were associated with the risk of developing Psor. A total of 392 patients and 336 controls were genotyped for a common intron 10 indel that could affect pre-mRNA splicing. We found a significantly higher frequency of the insertion among the cw6-positive patients (p=0.01). Cw6-positive+intron 10 ins/ins were significantly more frequent in the patients (OR=3.61). The analysis of the cDNA from leukocytes showed a NFKBIZ transcript lacking exon 10, present in all the tested samples. This new alternative transcript lacks a domain predicted to interact with the NFKB1/p50 protein. Functional studies to define the effect of this alternative transcript on the regulation of the NF-κB pathway are necessary.

Management of actinic cheilitis using ingenol mebutate gel: A report of seven cases

Abstract Actinic cheilitis (AC) can precede the development of squamous cell carcinoma of the lip, a location with high risk of invasiveness and metastasis. We communicate the good results that we obtained when treating seven patients suffering from AC with ingenol mebutate (IM) 0,015% concentration gel on three consecutive days. Three patients achieved complete clearance and four significant improvement. IM is a topical field treatment approved for actinic keratosis. To our knowledge, reported experience in the management of AC with IM is very limited. Local skin responses grade 3 were the main adverse event observed and they resolved in all patients without specific therapy within 1 to 2 weeks. IM is characterized by its rapid clinical effect, its favorable safety profile and its dosing period of only 3 days, shorter than with other field therapies. All these facts make it an attractive new therapy for AC, with need for further study.

Influence of Fcγ Receptor Polymorphisms on Response to Anti-Tumor Necrosis Factor Treatment in Psoriasis.

absence of differential diagnosis as a factor in diagnostic confidence in both online (χ2 P = .001) and physical consultation (P < .001).4,5 In 37 cases (42%), a second diagnosis was made during the physical consultation, with 1 basal cell and 1 squamous epithelial carcinoma diagnosed at consultation. The limitations of our study include its retrospective design, lack of randomization, and the limited patient numbers.

Teledermatología en edad pediátrica. Observaciones en la práctica clínica diaria

INTRODUCTION Teledermatology is a technique that is increasingly being developed. There are many studies that assess this discipline in the general population, but few studies analyse the paediatric population exclusively. The aims of this study are to describe the distribution of diseases consulted through teledermatology, the use of this technique to avoid face-to-face consultations, and the agreement between virtual and face-to-face diagnoses, in the paediatric population. MATERIAL AND METHODS The work consisted of an observational and retrospective study of the virtual consultations made between May 2011 and January 2015 through a store-and-forward teledermatology programme, involving patients from 0 to 15 years. We collected demographic data, as well as the diagnoses made by the paediatrician who made the virtual consultation, and by the dermatologists who assessed the virtual and the face-to-face consultations, the indication given by the dermatologist who assessed the virtual consultation (discharge or referral), reason for referral, and diagnostic agreement rate. RESULTS A total of 183 virtual consultations were analysed. The most frequent diagnoses were inflammatory diseases (39%), benign pigmented lesions (23%), and infectious diseases (20%). Almost half of the virtual consultations (48%) were referred for a face-to-face diagnosis. Diagnostic agreement between the dermatologist who evaluated the virtual consultation and the dermatologist who evaluated the face-to-face consultation was 89%, and 66% between the paediatrician who made the virtual consultation and the dermatologist who assessed it. CONCLUSIONS Virtual consultations have a similar disease distribution to conventional (face-to-face) referrals. Approximately half of the virtual consultations do not require a subsequent face-to-face visit. The agreement rate between the diagnoses given by both dermatologists (virtual and face-to-face diagnoses) is high.

Topical carbocysteine: A new option for the treatment of ichthyosis

N‐acetylcysteine in combination with urea is effective for the treatment of congenital ichthyosis. Although it is well tolerated, its foul smell may compromise treatment adherence. Carbocysteine is a similar molecule without that bad odor. Thus, we have tried a new formula with carbocysteine for the treatment of 4 patients with ichthyosis, with positive results.

Genotype-phenotype correlation in type 1 neurofibromatosis: pMet992del mutation and milder disease

A few genotype‐phenotype correlations have been described in type 1 neurofibromatosis. One deletion, p.Met992del, seems to be responsible for a mild form of the condition, in which there is absence of externally visible neurofibromas. We report a mother and a son with this mutation.