Treatment of neurofibromas with a carbon dioxide laser: a retrospective cross-sectional study of 106 patients.

BACKGROUND: Few studies have evaluated the efficacy of carbon dioxide (CO2) laser ablation for treating neurofibromatosis type 1 (NF1). OBJECTIVE: To evaluate laser treatment safety and patient satisfaction at the French National Referral Centre for Neurofibromatosis. METHODS: Retrospective survey with a specific questionnaire. The principal outcome measures included pain evaluation and assessments of treatment safety. RESULTS: We included 106 patients, 70% of whom had more than 50 neurofibromas. Laser treatment was performed mostly for aesthetic reasons, or due to pain, recurrent local trauma or familial influence, under a local anaesthetic, during outpatient visits. The mean pain score was 4.0 ± 2.7 during the administration of local anaesthesia, 2.4 ± 2.1 during laser treatment and <2 48 h after treatment in 56% of cases. The mean satisfaction score for the treatment was 4.6 ± 3.4 and was not associated with disease phenotype. CONCLUSIONS: CO2 laser treatment for NF could be considered more frequently and might help to decrease the social impact of the disease.

Exploring the link between dystonia genes and idiopathic scoliosis.

BACKGROUND: Adolescent idiopathic scoliosis (AIS) is characterized by a complex curvature of the spine of unknown etiology. Unknown genetic factors likely play a role in disease pathogenesis. Recent studies suggest that AIS could result from central nervous system dysfunction and be related to dystonia. On the basis of this information, we hypothesized that genes linked to dystonia contribute to the pathogenesis of AIS. METHODS: To test this hypothesis, we evaluated the potential association between sequence variants in candidate dystonia genes and AIS. We sequenced the coding region of 5 selected dystonia-causing genes in 24 subjects with AIS, followed by targeted confirmation in additional 89 patients and 73 controls. RESULTS: No mutations were identified in any of the dystonia genes studied. CONCLUSIONS: We found no genetic link between dystonia and AIS. CLINICAL RELEVANCE: This investigation is a genetic evaluation of the association between dystonia and AIS. Despite the support in the literature for a pathogenic link between both the disorders, we have not identified any mutations in dystonia genes in patients with AIS.

Phase II study of cetuximab as first-line single-drug therapy in patients with unresectable squamous cell carcinoma of the skin.

PURPOSE: To evaluate the efficacy and safety of cetuximab, a monoclonal antibody that inhibits the epidermal growth factor receptor (EGFR), as a first-line monotherapy in patients with unresectable squamous cell carcinoma of the skin (SCCS). PATIENTS AND METHODS: Thirty-six patients received cetuximab (initial dose of 400 mg/m(2) followed by subsequent weekly doses of 250 mg/m(2)) for at least 6 weeks with a 48-week follow-up. The primary end point was the disease control rate (DCR) at 6 weeks (according to Response Evaluation Criteria in Solid Tumors [RECIST] criteria). Secondary end points included best response rate, overall survival, progression-free survival (PFS), and toxicity assessment. Association of treatment efficacy with RAS mutations or FcγR genotypes was investigated. RESULTS: Median age of the study population was 79 years. DCR at 6 weeks was obtained in 25 of 36 patients (69%; 95% CI, 52% to 84%) of the intention-to-treat population. The best responses were eight partial responses and two complete responses. There were no cetuximab-related deaths. There were three related serious adverse events: two grade 4 infusion reactions and one grade 3 interstitial pneumopathy. Grade 1 to 2 acne-like rash occurred in 78% of patients and was associated with prolonged PFS. One HRAS mutation was identified. Combined FcγRIIa-131H/H and/or FcγRIIIa-158V/V polymorphisms were not associated with the clinical outcomes. CONCLUSION: As a first-line treatment in patients with unresectable SCCS, cetuximab achieved 69% DCR. A randomized phase III trial is warranted to confirm that cetuximab may be considered as a therapeutic option especially in elderly patients. The low frequency of RAS mutations in SCCS makes SCCS tumors attractive for EGFR inhibition.

Psoriasis induced by tumor necrosis factor-alpha antagonist therapy: a case series.

OBJECTIVE: Although tumor necrosis factor-alpha (TNF-alpha) antagonists are effective in the treatment of refractory psoriasis, some cases have suggested that psoriasis might be induced as a result of treatment prescribed mainly for rheumatoid arthritis, ankylosing spondylitis, and Crohn's disease. To investigate anti-TNF-alpha induced psoriasis, we conducted a systematic analysis of the 6 cases we observed among our inflammatory patient cohort treated with anti-TNF-alpha (infliximab or etanercept). METHODS: We report 6 cases of psoriasis with onset during TNF-alpha antagonist therapy (infliximab and etanercept); characteristics and skin lesions are described. RESULTS: No patient had a personal or family history of psoriasis. The development of psoriasis was seen in all the types of inflammatory diseases we treated with TNF-alpha antagonists. There was great variation in the age of affected patients and in the onset of psoriasis after initiation of TNF-alpha antagonists. Both TNF-alpha antagonists studied were associated with development of psoriasis. In 2 cases psoriasis was associated with 2 different TNF-alpha antagonists in the same patient. In half our patients, skin lesions started in the inguinal and pubic regions, but palmoplantar pustulosis was also common. In half the cases, skin lesions responded favorably with topical agents despite continuation of TNF-alpha antagonist therapy. CONCLUSION: In light of previously published cases describing psoriasis or psoriasiform lesions after TNF-alpha antagonist therapy, our series strongly confirms that TNF-alpha antagonists may induce psoriasis in some patients. Further studies are needed to identify risk factors for TNF-alpha antagonist induced psoriasis.