Clinical and Experimental Dermatology最新文献

Skin picking disorder (SPD) is a well-described neuropsychiatric disorder that causes severe stress and impairment. However, there is no clear protocol for treating patients, and only a relatively small body of literature evaluating treatment approaches. This review aims to summarize and compare recent publications and provide an up-to-date guide of current nonpharmacological treatments for SPD. A literature review was conducted on all nonpharmacological SPD treatment studies published between 2017 and 2023 using PubMed, CINAHL Plus with Full Text (EBSCO) and Scopus. Search terms included 'skin picking', 'excoriation', 'psychiatry', 'treatment' and 'psychodermatology'. Studies including SPD within other body-focused repetitive behaviours, studies using pharmacological agents, and studies not available in English were excluded. A minimum of two authors screened each abstract to assess for inclusion while being blinded to minimize bias. Eleven studies (2068 participants) were included, with a variety of study designs including feasibility, randomized controlled trial, longitudinal cohort, multiple-baseline experimental, naturalistic trial, and controlled single-case design with multiple-baseline studies. The treatments include cognitive behavioural therapy (CBT), acceptance and commitment therapy (ACT), ACT-enhanced group behavioural therapy (AE-GBT), ACT-informed exposure therapy, group therapy, psychotherapy, repetitive transcranial magnetic stimulation, online self-help modules, and expressive writing. Studies implementing CBT, habit reversal therapy, AE-GBT, online self-help modules, and expressive writing demonstrated the best results in treating SPD. Several studies achieved significant outcomes for participants with SPD, confirming the usefulness of nonpharmacological treatment in SPD. Based on our results, CBT, AE-GBT, online self-help modules and expressive writing appear to be the most effective in treating SPD. Additionally, most of these treatment modalities can be tailored to meet patient-specific needs. Some limitations of the studies include small sample sizes, lack of control groups and randomization, limited long-term follow-up data and lack of gender variability.

Drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe adverse drug reaction with significant variation between patients concerning presenting symptoms and disease severity. Under the hypothesis that the clinical presentation of DRESS is drug specific, we performed a scoping review and identified 644 cases of paediatric DRESS. A single implicated drug was present in 262 cases, and drugs with 10 or more cases were included in this analysis (n = 224): carbamazepine (n = 86), dapsone (n = 16), lamotrigine (n = 25), phenobarbital (n = 38), phenytoin (n = 45) and trimethoprim-sulfamethoxazole (n = 14). Dapsone was associated with increased organ involvement, the highest mortality rate and the longest period of hospitalization. In addition, we showed that trimethoprim-sulfamethoxazole was associated with higher rates of autoimmune sequelae. This study confirms that drug-specific features exist and may impact the acute and long-term management of DRESS in children.

Background: Gorlin syndrome (GS) is an autosomal dominant disorder characterized by a predisposition to basal cell carcinoma and developmental defects. It is caused by pathogenic variants in the PTCH1 or SUFU genes.

Objectives: To ascertain the effectiveness of molecular screening in a cohort of patients with a suspicion of GS and to describe the patients' clinical and genetic characteristics.

Methods: In total, 110 patients with a suspicion of GS were studied. The patients were seen at the genetic department of Bichat University Hospital for molecular screening. The patients' clinical and paraclinical data were collected and analysed according to Evans' diagnostic criteria and were compared with molecular information.

Results: Among 110 probands, only 56% fulfilled Evans' diagnostic criteria. Overall, 75% of the patients who fulfilled those criteria carried a pathogenic variation in PTCH1 or SUFU. We compared the clinical and paraclinical data of 54 probands carrying a PTCH1 or SUFU mutation with 56 probands without identified mutations. Among patients carrying a pathogenic variation in the PTCH1 or SUFU genes, 30 years appears to be the cut-off age after which all patients have clear clinical GS. Indeed, after age 30 years, all patients carrying a PTCH1 or SUFU mutation fulfilled the diagnostic criteria of Evans (82% met the clinical criteria, reaching 100% with complementary examinations such as X-rays and ultrasound). Before 30 years of age, only 37% of patients with mutated genes fulfilled the clinical diagnostic criteria, reaching only 62% with simple complementary exams. We also report 22 new mutations in PTCH1.

Conclusions: Molecular screening of patients with GS who do not fulfil Evans' diagnostic criteria should only be offered in the first instance to patients under 30 years of age. After age 30 years, careful clinical examination and complementary radiological exams should be enough to eliminate the diagnosis of GS among patients who do not fulfil the diagnostic criteria.