Sociodemographic, clinical, laboratory, treatment and prognostic characteristics of 156 generalized pustular psoriasis patients in Turkey: a multicentre case series.

BACKGROUND: Generalized pustular psoriasis (GPP) is a rare and severe inflammatory disease characterized by widespread and superficial sterile pustules on an erythematous background. OBJECTIVES: This multicentre study aimed to determine the clinical profile and course in a large cohort of patients with GPP. METHODS: One hundred and fifty-six GPP patients (mean age, 44.2 ± 18.7 years) who met the diagnostic criteria of the European Consensus Report of GPP were included in the study. Sociodemographic characteristics, quality of life, triggering factors of the disease, clinical, laboratory, treatment and prognostic features were evaluated. RESULTS: 61.5% of the patients were female. The rate of working at or below the minimum wage (≤$332.5/month) was 44.9%. Drugs (36.5%) were the most common trigger. While hypocalcaemia (35.7%) was the most important cause of GPP during pregnancy, systemic steroid withdrawal (20%) was the most frequently reported trigger for infantile/juvenile and mixed-type GPP (15%) (P < 0.05). Acute GPP (53.8%) was the most common clinic. Nails were affected in 43.6% of patients, and subungual yellow spots (28.2%) were the most common change. In annular GPP, fever (P < 0.001) and relapse frequency (P = 0.006) were lower than other subtypes, and the number of hospitalizations (P = 0.002) was lower than acute GPP. GPP appeared at a later age in those with a history of psoriasis (P = 0.045). DLQI score (P = 0.049) and joint involvement (P = 0.016) were also higher in this group. Infantile/juvenile GPP was observed in 16.02% of all patients, and arthritis was lower in this group (24.4 vs. 16%). GPP of pregnancy had the worst prognosis due to abortion observed in three patients. CONCLUSIONS: Recent advances in treatment have improved mortality associated with GPP, but abortion remains a significant complication. Although TNF-α inhibitors have proven efficacy in GPP, they can also trigger the disease. Mixed-type GPP is more similar to acute GPP than annular GPP with systemic manifestations and course.

Brooke-Spiegler syndrome: focus on reflectance confocal microscopy findings of trichoepithelioma and flat cylindroma.

Brooke-Spiegler syndrome (BSS) is a rare, autosomal dominant disorder characterized by multiple adnexal tumours, especially trichoepitheliomas, cylindromas and occasionally spiradenomas. These lesions usually begin to appear in the second or third decade of life. Malignant transformation of pre-existing tumours may occur. In vivo reflectance-mode confocal microscopy (RCM) is a noninvasive method that can be used to visualize the epidermis and the upper dermis at almost histological resolution. It has been used to evaluate several skin conditions, especially malignant lesions, and has been reported to be useful for differentiating between malignant and benign skin tumours. Only a few studies have reported on the use of confocal microscopy to characterize the features of benign adnexal neoplasms. We present a patient with BSS who presented to our clinic with multiple skin tumours. The possible utility of RCM for identifying adnexal neoplasms is emphasized in this report, which also describes the observed microscopic features.

Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease.

BACKGROUND: Epidermodysplasia verruciformis (EV) is a genodermatosis leading to infections with cutaneous HPV, persistent plane warts and a high rate of non-melanoma skin cancer (NMSC). Biallelic loss-of-function mutations in TMC6 and TMC8 are known to be causative. OBJECTIVE: The aim of this study was to report EV-causing mutations in four patients with EV and to give an overview of all described patients with EV. PATIENTS AND METHODS: We investigated four patients with classical features of EV from two families. All patients were affected by plane warts with typical EV histology since early childhood, and ß-HPVs were detected on their skin. One patient had recurring cutaneous squamous cell carcinomas (cSCC) and carcinomas in situ (Bowen type). We sequenced both TMC6/8 for disease-causing mutations and quantified levels of gene expression. We also performed a systematic literature review to discuss these patients in the context of previously reported cases, mutations already identified, as well as HPV types. RESULTS: Three patients of one family carried a homozygous splice site mutation in TMC8 resulting in aberrantly spliced transcripts that were not degraded. By contrast, no TMC6/8 mutation was detected in the patient from the other family. A systematic literature review revealed 501 described patients with EV. Around 40% of patients with EV analysed for genetic alterations carried no mutation in TMC6/8. While ß-HPVs were identified in the majority of cases, α-HPVs were detected in several individuals. CONCLUSION: The relatively high proportion of EV patients without mutation in TMC6/8 indicates the existence of EV-causing mutations in additional, presently unknown gene(s). However, a homozygous TMC8 splice site mutation in our patients resulted in aberrant transcripts which cannot retain the healthy phenotype. The literature review revealed that HPV-5 is the most commonly identified HPV in patients with EV, but HPV-3, HPV-14 and HPV-20 were unexpectedly identified more frequently than HPV-8.

Reflectance confocal microscopy vs. standardized skin surface biopsy for measuring the density of Demodex mites.

BACKGROUND: Reflectance confocal microscopy (RCM) has been recently shown to be effective for measuring the Demodex mite density. OBJECTIVES: To compare and demonstrate the advantages and disadvantages of standardized skin surface biopsy (SSSB) and RCM for measuring the density of Demodex mites. MATERIALS AND METHODS: Forty-eight patients (30 female, 18 male) and 47 healthy controls (30 female, 17 male) were enrolled in the study. The patients diagnoses were pityriasis folliculorum (n = 40), papulopustulary rosecea (n = 7) and erythema-telengiectatic rosacea (n = 1). The area with the most intense erythema on the right cheek was selected for imaging with RCM (VivaScope 3000) and SSSB. RESULTS: Forty-two patients demonstrated high Demodex density [(Dd) > 5 mites/cm(2) ] with SSSB (85.7%). RCM identified demodicosis in 48 patients (100%). The mean Dd measured with RCM (409.8 ± 209.2) was significantly higher than SSSB (15.33 ± 18.1) (P < 0.001). In the patients, RCM demonstrated the mean number of mites 40.90 ± 20.9 and 4.11 ± 6.4 in the controls per 10 mm(2) area. The corresponding mean number of 2.63 ± 0.77 mites was detected in the infested follicles per area of view compared to a mean of 0.77 ± 0.98 mites in the infested follicles in the controls (P < 0.001). CONCLUSION: Reflectance confocal microscopy is a fast, direct and noninvasive method for Demodex-associated diseases and it is superior to SSSB for Demodex mite detection.