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Background: Cutaneous neurofibromas (cNF), present in 95% of individuals with neurofibromatosis 1 (NF1), are considered as one of the greatest medical burden because of physical disfigurement. No specific score evaluates their impact on quality of life (QoL). Objective: To develop a specific score assessing cNF‐related QoL. Methods: Through a multidisciplinary workshop including 10 patients, 3 expert‐in‐NF1 physicians, 3 health care workers (nurses and psychologist) and 1 methodologist, the French version of the Skindex‐16 was modified by adding 3 items. The new cNF‐Skindex was validated among patients with NF1 recruited in the ComPaRe online cohort, in France (N = 284). Construct validity was assessed by comparing it with the EQ‐5D‐5L, its visual analogue scale and the MYMOP2 and by assessing its association with patients' characteristics. Reliability was assessed by a test–retest. An English version of the tool was developed using a back‐forward translation. Results: A total of 228 individuals with NF1, with cNF answered the 19‐item questionnaire. These items fitted into 3 domains: emotions, symptoms, functioning. One was dropped during analysis because >90% responders were not concerned. The cNF‐Skindex significantly correlated with the EQ‐5D‐5L (N = 193) and MYMOP2 (N = 210) indicating good external validity: rs 0.38 (P < 0.001), and 0.58 (P < 0.001), respectively. Having >50 cNF was the only independent variable associated with the total score cNF‐Skindex (β = 15.88, 95%CI 6.96–24.81, P = 0.001), and with the 3 sub‐scores: 'functioning' (β = 2.65, 95%CI 0.71–4.59, P = 0.008), 'emotions' (β = 17.03, 95%CI 4.11–29.96, P = 0.010) and 'symptoms' (β = 3.90, 95%CI 1.95–5.85, P < 0.001). Test–retest reliability (N = 133) found an ICC at 0.96 demonstrating good reproducibility. Conclusion: The cNF‐Skindex demonstrated excellent psychometric properties. The global and sub‐scores were increased with higher number of cNF arguing for its use in further trials aiming to reduce their number or prevent their development. Cross‐cultural validation and evaluation of its responsiveness are the next steps. [ABSTRACT FROM AUTHOR]

Background: Neurofibromatosis 1 (NF1) is one of the most common inherited disorders characterized by mutations in the tumour suppressor gene NF1. Its clinical manifestations are highly variable and unpredictable. A specific NF1 mutation does not predict the severity or complications of the disease. Objective: The objective of this study was to build an empirical classification scheme without any a priori hypotheses to identify the underlying NF1 subtypes that best explain the observed heterogeneity. Methods: We performed latent class analysis (LCA) of 1351 consecutive NF1 patients aged >17 years seen between 2002 and 2014. Data and phenotypic features were collected prospectively on a standardized form. Results: The median age was 36.8 (17–81) years. A three‐class model showed the best fit: 706 (52%) belonged to the LC1 'Cutaneous neurofibromas' class having preferentially cutaneous neurofibromas (99%), plexiform neurofibromas (63%) and blue‐red macules (29%); 593 (44%) belonged to the LC2 'Subcutaneous neurofibromas' class characterized by the presence of at least 10 subcutaneous neurofibromas (21%) and a familial form (77%) and 52 (4%) belonged to the LC3 'Dysmorphic phenotype' class characterized by dysmorphic features (78%) and learning difficulties (87%). Patients in LC1 had a higher likelihood of developing scoliosis (RR = 1.7, 95% confidence interval (CI) [1.2–2.4]). Patients in LC2 were more likely to be men (RR = 1.4, 95% CI [1.1–1.7]). Patients in LC3 were at higher risk of having an optic pathway glioma (RR = 4.8, 95% CI [1.9–11.8]) and epilepsy (RR = 4.5, 95% CI [1.8–11.6]). Conclusion: Our findings invite the performance of a larger cohort study to test whether the various latent classes reflect different underlying genetic modifiers of these phenotypic traits. [ABSTRACT FROM AUTHOR]

In 23/30 patients (77%) and 14/17 (82%) of chilblains patients, COVID-19 was suspected in at least one first-degree relative and confirmed in four including two with chilblains. A clinical, histopathological and laboratory study of 19 consecutive Italian paediatric patients with chilblain-like lesions: lights and shadows on the relationship with COVID-19 infection. Serology was positive in only 1/16 chilblains patient among the 26 patients tested. [Extracted from the article]

Background: Surgery is a radical treatment for hidradenitis suppurativa (HS) and may be considered as the only one potentially curative. Objectives: To characterize HS recurrence in patients after surgery and assess the risk factors of recurrence. Methods: We conducted a monocentric retrospective cohort study. All consecutive patients who had surgery (January 1, 2012 to March 31, 2017) were included. We estimated the rate of recurrence of HS lesions after surgery (<1 cm from the scar), and recurrence‐associated factors were analysed by univariate then multivariate logistic regression, estimating odds ratios (ORs) and 95% confidence intervals (CIs). Results: A total of 75 patients [median age 31.4 years (range 16–71); 36 females], corresponding to 115 interventions were included. The Hurley score at surgery was III for 70 (60%) patients. In total, 61/115 (53%) interventions involved wide excision and 50 (43%) limited local excision. The localizations were axillary folds (n = 46; 40%), buttocks (n = 15, 13%), genital area (n = 13; 11%), perineal area (n = 12; 10%) and inguinal folds (n = 18; 16%). We observed 11 (10%) complications and 40 (35%) recurrences. On multivariate analysis, probability of recurrence was associated with only one‐stage surgical closure [OR 3.2 (95% CI 1.4–7.3), P = 0.005]. Overall, 44 (52%) patients were completely satisfied and 22 (26%) partially satisfied, and most (81%) considered the surgery the best treatment. Conclusions: Hidradenitis suppurativa recurrence in our study was 35% and associated with one‐stage surgical closures, but two‐thirds of patients were satisfied with surgical treatment and would recommend surgery. [ABSTRACT FROM AUTHOR]

Staphylococcal scalded skin syndrome (SSSS) is caused by the exfoliative toxins (ET) A and B produced by some I Staphylococcus aureus i ( I S. aureus i ) strains. Paediatric SSSS is most commonly seen between 6 months and 5 years of age.[1] Around 90% of term infants have anti-ETA antibodies in their umbilical blood.[1] Neonatal SSSS results classically from inappropriate umbilical care or circumcision procedures. The use of feeding bottles was significantly more frequent among patients with infectious mastitis [approximately 4.10 times (OR: 4.10) higher].[5] I S. aureus, S. epidermidis i and I Corynebacteria i have been identified as the predominant aetiological agents in acute, subacute and granulomatous mastitis, respectively. [Extracted from the article]

Linked article: C. Marasca et al. J Eur Acad Dermatol Venereol 2020;34: e413–e414. https://doi.org/10.1111/jdv.16361. [ABSTRACT FROM AUTHOR]

The article presents case studies of a 34-year-old man with buttock cellulitis and a 49-year-old with leg cellulitis. Topics include diagnoses of Burkholderia pseudomallei from pus in the inguinal abscess, prevalence of cutaneous melioidosis in travelers, and therapeutics used including ceftazidime or cotrimoxazole.